| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T6543 |
2049-2055 |
NN |
denotes |
genome |
| T1474 |
13-16 |
DT |
denotes |
The |
| T1475 |
17-20 |
NN |
denotes |
use |
| T1476 |
95-101 |
VBN |
denotes |
become |
| T1477 |
21-23 |
IN |
denotes |
of |
| T1478 |
24-31 |
JJ |
denotes |
forward |
| T1479 |
32-40 |
NN |
denotes |
genetics |
| T1480 |
41-43 |
TO |
denotes |
to |
| T1481 |
44-50 |
VB |
denotes |
define |
| T1482 |
51-56 |
JJ |
denotes |
novel |
| T1483 |
57-61 |
NNS |
denotes |
loci |
| T1484 |
62-64 |
IN |
denotes |
of |
| T1485 |
65-73 |
NN |
denotes |
interest |
| T1486 |
74-76 |
IN |
denotes |
in |
| T1487 |
77-82 |
JJ |
denotes |
human |
| T1488 |
83-90 |
NN |
denotes |
disease |
| T1489 |
91-94 |
VBZ |
denotes |
has |
| T1490 |
102-114 |
RB |
denotes |
increasingly |
| T1491 |
115-121 |
JJ |
denotes |
viable |
| T1492 |
122-126 |
IN |
denotes |
with |
| T1493 |
127-130 |
DT |
denotes |
the |
| T1494 |
131-145 |
NN |
denotes |
implementation |
| T1495 |
146-148 |
IN |
denotes |
of |
| T1496 |
149-154 |
JJ |
denotes |
large |
| T1497 |
155-160 |
NN |
denotes |
scale |
| T1498 |
154-155 |
HYPH |
denotes |
- |
| T1499 |
173-181 |
NNS |
denotes |
programs |
| T1500 |
161-172 |
NN |
denotes |
mutagenesis |
| T1501 |
181-182 |
. |
denotes |
. |
| T1502 |
182-338 |
sentence |
denotes |
Prior to these initiatives this work was carried out in part by the investigation of spontaneous mutations that cause disorders in mouse breeding colonies. |
| T1503 |
183-188 |
RB |
denotes |
Prior |
| T1504 |
189-191 |
IN |
denotes |
to |
| T1505 |
224-231 |
VBN |
denotes |
carried |
| T1506 |
192-197 |
DT |
denotes |
these |
| T1507 |
198-209 |
NNS |
denotes |
initiatives |
| T1508 |
210-214 |
DT |
denotes |
this |
| T1509 |
215-219 |
NN |
denotes |
work |
| T1510 |
220-223 |
VBD |
denotes |
was |
| T1511 |
232-235 |
RP |
denotes |
out |
| T1512 |
236-238 |
IN |
denotes |
in |
| T1513 |
239-243 |
JJ |
denotes |
part |
| T1514 |
244-246 |
IN |
denotes |
by |
| T1515 |
247-250 |
DT |
denotes |
the |
| T1516 |
251-264 |
NN |
denotes |
investigation |
| T1517 |
265-267 |
IN |
denotes |
of |
| T1518 |
268-279 |
JJ |
denotes |
spontaneous |
| T1519 |
280-289 |
NNS |
denotes |
mutations |
| T1520 |
290-294 |
WDT |
denotes |
that |
| T1521 |
295-300 |
VBP |
denotes |
cause |
| T1522 |
301-310 |
NNS |
denotes |
disorders |
| T1523 |
311-313 |
IN |
denotes |
in |
| T1524 |
314-319 |
NN |
denotes |
mouse |
| T1525 |
329-337 |
NNS |
denotes |
colonies |
| T1526 |
320-328 |
NN |
denotes |
breeding |
| T1527 |
337-338 |
. |
denotes |
. |
| T1528 |
338-463 |
sentence |
denotes |
Careful observation of these serendipitous events has led to the establishment and study of many in vivo disease models [3]. |
| T1529 |
339-346 |
JJ |
denotes |
Careful |
| T1530 |
347-358 |
NN |
denotes |
observation |
| T1531 |
393-396 |
VBN |
denotes |
led |
| T1532 |
359-361 |
IN |
denotes |
of |
| T1533 |
362-367 |
DT |
denotes |
these |
| T1534 |
382-388 |
NNS |
denotes |
events |
| T1535 |
368-381 |
JJ |
denotes |
serendipitous |
| T1536 |
389-392 |
VBZ |
denotes |
has |
| T1537 |
397-399 |
IN |
denotes |
to |
| T1538 |
400-403 |
DT |
denotes |
the |
| T1539 |
404-417 |
NN |
denotes |
establishment |
| T1540 |
418-421 |
CC |
denotes |
and |
| T1541 |
422-427 |
NN |
denotes |
study |
| T1542 |
428-430 |
IN |
denotes |
of |
| T1543 |
431-435 |
JJ |
denotes |
many |
| T1544 |
452-458 |
NNS |
denotes |
models |
| T1545 |
436-438 |
FW |
denotes |
in |
| T1546 |
439-443 |
FW |
denotes |
vivo |
| T1547 |
444-451 |
NN |
denotes |
disease |
| T1548 |
459-460 |
-LRB- |
denotes |
[ |
| T1549 |
460-461 |
CD |
denotes |
3 |
| T1550 |
461-462 |
-RRB- |
denotes |
] |
| T1551 |
462-463 |
. |
denotes |
. |
| T1552 |
463-615 |
sentence |
denotes |
During the generation of a knockout line of mice we noted an early movement disorder that was inherited independently of targeting vector transmission. |
| T1553 |
464-470 |
IN |
denotes |
During |
| T1554 |
516-521 |
VBD |
denotes |
noted |
| T1555 |
471-474 |
DT |
denotes |
the |
| T1556 |
475-485 |
NN |
denotes |
generation |
| T1557 |
486-488 |
IN |
denotes |
of |
| T1558 |
489-490 |
DT |
denotes |
a |
| T1559 |
500-504 |
NN |
denotes |
line |
| T1560 |
491-499 |
NN |
denotes |
knockout |
| T1561 |
505-507 |
IN |
denotes |
of |
| T1562 |
508-512 |
NNS |
denotes |
mice |
| T1563 |
513-515 |
PRP |
denotes |
we |
| T1564 |
522-524 |
DT |
denotes |
an |
| T1565 |
540-548 |
NN |
denotes |
disorder |
| T1566 |
525-530 |
JJ |
denotes |
early |
| T1567 |
531-539 |
NN |
denotes |
movement |
| T1568 |
549-553 |
WDT |
denotes |
that |
| T1569 |
558-567 |
VBN |
denotes |
inherited |
| T1570 |
554-557 |
VBD |
denotes |
was |
| T1571 |
568-581 |
RB |
denotes |
independently |
| T1572 |
582-584 |
IN |
denotes |
of |
| T1573 |
585-594 |
VBG |
denotes |
targeting |
| T1574 |
595-601 |
NN |
denotes |
vector |
| T1575 |
602-614 |
NN |
denotes |
transmission |
| T1576 |
614-615 |
. |
denotes |
. |
| T1577 |
615-791 |
sentence |
denotes |
We embarked on a series of experiments to identify the genetic lesion underlying this movement disorder and to identify a cognate disease and corresponding mutation in humans. |
| T1578 |
616-618 |
PRP |
denotes |
We |
| T1579 |
619-627 |
VBD |
denotes |
embarked |
| T1580 |
628-630 |
IN |
denotes |
on |
| T1581 |
631-632 |
DT |
denotes |
a |
| T1582 |
633-639 |
NN |
denotes |
series |
| T1583 |
640-642 |
IN |
denotes |
of |
| T1584 |
643-654 |
NNS |
denotes |
experiments |
| T1585 |
655-657 |
TO |
denotes |
to |
| T1586 |
658-666 |
VB |
denotes |
identify |
| T1587 |
667-670 |
DT |
denotes |
the |
| T1588 |
679-685 |
NN |
denotes |
lesion |
| T1589 |
671-678 |
JJ |
denotes |
genetic |
| T1590 |
686-696 |
VBG |
denotes |
underlying |
| T1591 |
697-701 |
DT |
denotes |
this |
| T1592 |
711-719 |
NN |
denotes |
disorder |
| T1593 |
702-710 |
NN |
denotes |
movement |
| T1594 |
720-723 |
CC |
denotes |
and |
| T1595 |
724-726 |
TO |
denotes |
to |
| T1596 |
727-735 |
VB |
denotes |
identify |
| T1597 |
736-737 |
DT |
denotes |
a |
| T1598 |
746-753 |
NN |
denotes |
disease |
| T1599 |
738-745 |
JJ |
denotes |
cognate |
| T1600 |
754-757 |
CC |
denotes |
and |
| T1601 |
758-771 |
VBG |
denotes |
corresponding |
| T1602 |
772-780 |
NN |
denotes |
mutation |
| T1603 |
781-783 |
IN |
denotes |
in |
| T1604 |
784-790 |
NNS |
denotes |
humans |
| T1605 |
790-791 |
. |
denotes |
. |
| T1606 |
791-957 |
sentence |
denotes |
Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans. |
| T1607 |
792-796 |
RB |
denotes |
Here |
| T1608 |
800-808 |
VBP |
denotes |
describe |
| T1609 |
797-799 |
PRP |
denotes |
we |
| T1610 |
809-813 |
DT |
denotes |
this |
| T1611 |
814-820 |
NN |
denotes |
effort |
| T1612 |
821-824 |
CC |
denotes |
and |
| T1613 |
825-828 |
DT |
denotes |
the |
| T1614 |
829-838 |
NN |
denotes |
discovery |
| T1615 |
839-841 |
IN |
denotes |
of |
| T1616 |
842-850 |
NN |
denotes |
deletion |
| T1617 |
851-853 |
IN |
denotes |
at |
| T1618 |
854-857 |
DT |
denotes |
the |
| T1619 |
864-869 |
NN |
denotes |
locus |
| T1620 |
858-863 |
NN |
denotes |
ITPR1 |
| T1621 |
870-872 |
IN |
denotes |
as |
| T1622 |
873-874 |
DT |
denotes |
a |
| T1623 |
875-880 |
NN |
denotes |
cause |
| T1624 |
881-883 |
IN |
denotes |
of |
| T1625 |
884-888 |
DT |
denotes |
this |
| T1626 |
889-897 |
NN |
denotes |
disorder |
| T1627 |
898-900 |
IN |
denotes |
in |
| T1628 |
901-905 |
NNS |
denotes |
mice |
| T1629 |
906-909 |
CC |
denotes |
and |
| T1630 |
910-912 |
IN |
denotes |
of |
| T1631 |
913-928 |
JJ |
denotes |
spinocerebellar |
| T1632 |
929-935 |
NN |
denotes |
ataxia |
| T1633 |
936-938 |
CD |
denotes |
15 |
| T1634 |
939-940 |
-LRB- |
denotes |
( |
| T1635 |
940-945 |
NN |
denotes |
SCA15 |
| T1636 |
945-946 |
-RRB- |
denotes |
) |
| T1637 |
947-949 |
IN |
denotes |
in |
| T1638 |
950-956 |
NNS |
denotes |
humans |
| T1639 |
956-957 |
. |
denotes |
. |
| T6544 |
2043-2048 |
NN |
denotes |
mouse |
| T6436 |
1423-1424 |
DT |
denotes |
a |
| T6363 |
978-984 |
IN |
denotes |
During |
| T6364 |
1053-1058 |
VBD |
denotes |
noted |
| T6365 |
985-988 |
DT |
denotes |
the |
| T6366 |
989-999 |
NN |
denotes |
generation |
| T6367 |
1000-1002 |
IN |
denotes |
of |
| T6368 |
1003-1004 |
DT |
denotes |
a |
| T6369 |
1005-1009 |
NN |
denotes |
line |
| T6370 |
1010-1012 |
IN |
denotes |
of |
| T6371 |
1013-1017 |
NNS |
denotes |
mice |
| T6372 |
1018-1022 |
IN |
denotes |
with |
| T6373 |
1023-1031 |
NN |
denotes |
knockout |
| T6374 |
1032-1034 |
IN |
denotes |
of |
| T6375 |
1035-1038 |
DT |
denotes |
the |
| T6376 |
1039-1043 |
NN |
denotes |
gene |
| T6377 |
1044-1049 |
NN |
denotes |
Park7 |
| T6378 |
1050-1052 |
PRP |
denotes |
we |
| T6379 |
1059-1061 |
DT |
denotes |
an |
| T6380 |
1077-1085 |
NN |
denotes |
disorder |
| T6381 |
1062-1067 |
JJ |
denotes |
early |
| T6382 |
1068-1076 |
NN |
denotes |
movement |
| T6383 |
1086-1090 |
WDT |
denotes |
that |
| T6384 |
1095-1104 |
VBN |
denotes |
inherited |
| T6385 |
1091-1094 |
VBD |
denotes |
was |
| T6386 |
1105-1118 |
RB |
denotes |
independently |
| T6387 |
1119-1121 |
IN |
denotes |
of |
| T6388 |
1122-1131 |
NN |
denotes |
targeting |
| T6389 |
1132-1138 |
NN |
denotes |
vector |
| T6390 |
1139-1151 |
NN |
denotes |
transmission |
| T6391 |
1151-1152 |
. |
denotes |
. |
| T6392 |
1152-1287 |
sentence |
denotes |
Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch. |
| T6393 |
1153-1156 |
PRP$ |
denotes |
Our |
| T6394 |
1165-1177 |
NNS |
denotes |
observations |
| T6395 |
1157-1164 |
JJ |
denotes |
initial |
| T6396 |
1178-1187 |
VBD |
denotes |
suggested |
| T6397 |
1188-1191 |
DT |
denotes |
the |
| T6398 |
1201-1205 |
NNS |
denotes |
mice |
| T6399 |
1192-1200 |
VBN |
denotes |
affected |
| T6400 |
1206-1214 |
VBD |
denotes |
suffered |
| T6401 |
1215-1219 |
IN |
denotes |
from |
| T6402 |
1220-1222 |
DT |
denotes |
an |
| T6403 |
1254-1262 |
NN |
denotes |
disorder |
| T6404 |
1223-1233 |
RB |
denotes |
apparently |
| T6405 |
1234-1244 |
JJ |
denotes |
paroxysmal |
| T6406 |
1245-1253 |
NN |
denotes |
movement |
| T6407 |
1262-1264 |
, |
denotes |
, |
| T6408 |
1264-1269 |
RB |
denotes |
often |
| T6409 |
1270-1277 |
VBN |
denotes |
induced |
| T6410 |
1278-1280 |
IN |
denotes |
by |
| T6411 |
1281-1286 |
NN |
denotes |
touch |
| T6412 |
1286-1287 |
. |
denotes |
. |
| T6413 |
1287-1398 |
sentence |
denotes |
The abnormal movements occurred predominantly below the cervical level, and the disorder appeared progressive. |
| T6414 |
1288-1291 |
DT |
denotes |
The |
| T6415 |
1301-1310 |
NNS |
denotes |
movements |
| T6416 |
1292-1300 |
JJ |
denotes |
abnormal |
| T6417 |
1311-1319 |
VBD |
denotes |
occurred |
| T6418 |
1320-1333 |
RB |
denotes |
predominantly |
| T6419 |
1334-1339 |
IN |
denotes |
below |
| T6420 |
1340-1343 |
DT |
denotes |
the |
| T6421 |
1353-1358 |
NN |
denotes |
level |
| T6422 |
1344-1352 |
JJ |
denotes |
cervical |
| T6423 |
1358-1360 |
, |
denotes |
, |
| T6424 |
1360-1363 |
CC |
denotes |
and |
| T6425 |
1364-1367 |
DT |
denotes |
the |
| T6426 |
1368-1376 |
NN |
denotes |
disorder |
| T6427 |
1377-1385 |
VBD |
denotes |
appeared |
| T6428 |
1386-1397 |
JJ |
denotes |
progressive |
| T6429 |
1397-1398 |
. |
denotes |
. |
| T6430 |
1398-1633 |
sentence |
denotes |
At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology. |
| T6431 |
1399-1401 |
IN |
denotes |
At |
| T6432 |
1471-1478 |
VBD |
denotes |
likened |
| T6433 |
1402-1409 |
JJ |
denotes |
initial |
| T6434 |
1410-1421 |
NN |
denotes |
examination |
| T6435 |
1421-1423 |
, |
denotes |
, |
| T6437 |
1449-1459 |
NN |
denotes |
specialist |
| T6438 |
1425-1430 |
JJ |
denotes |
human |
| T6439 |
1440-1448 |
NN |
denotes |
disorder |
| T6440 |
1431-1439 |
NN |
denotes |
movement |
| T6441 |
1460-1461 |
-LRB- |
denotes |
( |
| T6442 |
1467-1469 |
NNP |
denotes |
H. |
| T6443 |
1461-1463 |
NNP |
denotes |
K. |
| T6444 |
1464-1466 |
NNP |
denotes |
G. |
| T6445 |
1466-1467 |
HYPH |
denotes |
- |
| T6446 |
1469-1470 |
-RRB- |
denotes |
) |
| T6447 |
1479-1482 |
DT |
denotes |
the |
| T6448 |
1483-1491 |
NN |
denotes |
disorder |
| T6449 |
1492-1494 |
IN |
denotes |
to |
| T6450 |
1495-1503 |
JJ |
denotes |
episodic |
| T6451 |
1517-1523 |
NN |
denotes |
ataxia |
| T6452 |
1504-1516 |
JJ |
denotes |
intermittent |
| T6453 |
1524-1526 |
CC |
denotes |
or |
| T6454 |
1527-1539 |
JJ |
denotes |
kinesiogenic |
| T6455 |
1551-1559 |
NN |
denotes |
dystonia |
| T6456 |
1540-1550 |
JJ |
denotes |
paroxysmal |
| T6457 |
1560-1563 |
CC |
denotes |
and |
| T6458 |
1564-1573 |
VBD |
denotes |
predicted |
| T6459 |
1574-1577 |
DT |
denotes |
the |
| T6460 |
1578-1589 |
NN |
denotes |
involvement |
| T6461 |
1590-1592 |
IN |
denotes |
of |
| T6462 |
1593-1595 |
DT |
denotes |
an |
| T6463 |
1608-1616 |
NN |
denotes |
mutation |
| T6464 |
1596-1599 |
NN |
denotes |
ion |
| T6465 |
1600-1607 |
NN |
denotes |
channel |
| T6466 |
1617-1619 |
IN |
denotes |
in |
| T6467 |
1620-1623 |
DT |
denotes |
the |
| T6468 |
1624-1632 |
NN |
denotes |
etiology |
| T6469 |
1632-1633 |
. |
denotes |
. |
| T6470 |
1633-1759 |
sentence |
denotes |
Affected mice presented at approximately postnatal day 14, and survival time without weaning was on average 4 wk after onset. |
| T6471 |
1634-1642 |
VBN |
denotes |
Affected |
| T6472 |
1643-1647 |
NNS |
denotes |
mice |
| T6473 |
1648-1657 |
VBD |
denotes |
presented |
| T6474 |
1658-1660 |
IN |
denotes |
at |
| T6475 |
1661-1674 |
RB |
denotes |
approximately |
| T6476 |
1685-1688 |
NN |
denotes |
day |
| T6477 |
1675-1684 |
JJ |
denotes |
postnatal |
| T6478 |
1689-1691 |
CD |
denotes |
14 |
| T6479 |
1691-1693 |
, |
denotes |
, |
| T6480 |
1693-1696 |
CC |
denotes |
and |
| T6481 |
1697-1705 |
NN |
denotes |
survival |
| T6482 |
1706-1710 |
NN |
denotes |
time |
| T6483 |
1727-1730 |
VBD |
denotes |
was |
| T6484 |
1711-1718 |
IN |
denotes |
without |
| T6485 |
1719-1726 |
NN |
denotes |
weaning |
| T6486 |
1731-1733 |
IN |
denotes |
on |
| T6487 |
1734-1741 |
JJ |
denotes |
average |
| T6488 |
1742-1743 |
CD |
denotes |
4 |
| T6489 |
1744-1746 |
NN |
denotes |
wk |
| T6490 |
1747-1752 |
IN |
denotes |
after |
| T6491 |
1753-1758 |
NN |
denotes |
onset |
| T6492 |
1758-1759 |
. |
denotes |
. |
| T6493 |
1759-1865 |
sentence |
denotes |
Breeding experiments suggested that the observed disorder was inherited in an autosomal recessive manner. |
| T6494 |
1760-1768 |
NN |
denotes |
Breeding |
| T6495 |
1769-1780 |
NNS |
denotes |
experiments |
| T6496 |
1781-1790 |
VBD |
denotes |
suggested |
| T6497 |
1791-1795 |
IN |
denotes |
that |
| T6498 |
1822-1831 |
VBN |
denotes |
inherited |
| T6499 |
1796-1799 |
DT |
denotes |
the |
| T6500 |
1809-1817 |
NN |
denotes |
disorder |
| T6501 |
1800-1808 |
VBN |
denotes |
observed |
| T6502 |
1818-1821 |
VBD |
denotes |
was |
| T6503 |
1832-1834 |
IN |
denotes |
in |
| T6504 |
1835-1837 |
DT |
denotes |
an |
| T6505 |
1858-1864 |
NN |
denotes |
manner |
| T6506 |
1838-1847 |
JJ |
denotes |
autosomal |
| T6507 |
1848-1857 |
JJ |
denotes |
recessive |
| T6508 |
1864-1865 |
. |
denotes |
. |
| T6509 |
1865-2056 |
sentence |
denotes |
To map the location of the disease-causing lesion, we performed genome-wide linkage analysis using strain-specific single nucleotide polymorphisms (SNPs) at 120 loci across the mouse genome. |
| T6510 |
1866-1868 |
TO |
denotes |
To |
| T6511 |
1869-1872 |
VB |
denotes |
map |
| T6512 |
1920-1929 |
VBD |
denotes |
performed |
| T6513 |
1873-1876 |
DT |
denotes |
the |
| T6514 |
1877-1885 |
NN |
denotes |
location |
| T6515 |
1886-1888 |
IN |
denotes |
of |
| T6516 |
1889-1892 |
DT |
denotes |
the |
| T6517 |
1909-1915 |
NN |
denotes |
lesion |
| T6518 |
1893-1900 |
NN |
denotes |
disease |
| T6519 |
1901-1908 |
VBG |
denotes |
causing |
| T6520 |
1900-1901 |
HYPH |
denotes |
- |
| T6521 |
1915-1917 |
, |
denotes |
, |
| T6522 |
1917-1919 |
PRP |
denotes |
we |
| T6523 |
1930-1936 |
NN |
denotes |
genome |
| T6524 |
1937-1941 |
JJ |
denotes |
wide |
| T6525 |
1936-1937 |
HYPH |
denotes |
- |
| T6526 |
1950-1958 |
NN |
denotes |
analysis |
| T6527 |
1942-1949 |
NN |
denotes |
linkage |
| T6528 |
1959-1964 |
VBG |
denotes |
using |
| T6529 |
1965-1971 |
NN |
denotes |
strain |
| T6530 |
1972-1980 |
JJ |
denotes |
specific |
| T6531 |
1971-1972 |
HYPH |
denotes |
- |
| T6532 |
1999-2012 |
NNS |
denotes |
polymorphisms |
| T6533 |
1981-1987 |
JJ |
denotes |
single |
| T6534 |
1988-1998 |
NN |
denotes |
nucleotide |
| T6535 |
2013-2014 |
-LRB- |
denotes |
( |
| T6536 |
2014-2018 |
NNS |
denotes |
SNPs |
| T6537 |
2018-2019 |
-RRB- |
denotes |
) |
| T6538 |
2020-2022 |
IN |
denotes |
at |
| T6539 |
2023-2026 |
CD |
denotes |
120 |
| T6540 |
2027-2031 |
NNS |
denotes |
loci |
| T6541 |
2032-2038 |
IN |
denotes |
across |
| T6542 |
2039-2042 |
DT |
denotes |
the |
| T6545 |
2055-2056 |
. |
denotes |
. |
| T6546 |
2056-2232 |
sentence |
denotes |
Analysis of these data showed a single genomic region with significant linkage to disease, providing a two-point LOD score of 5.13 at marker 20.MMHAP85FLG2 on Chromosome 6qE1. |
| T6547 |
2057-2065 |
NN |
denotes |
Analysis |
| T6548 |
2080-2086 |
VBD |
denotes |
showed |
| T6549 |
2066-2068 |
IN |
denotes |
of |
| T6550 |
2069-2074 |
DT |
denotes |
these |
| T6551 |
2075-2079 |
NNS |
denotes |
data |
| T6552 |
2087-2088 |
DT |
denotes |
a |
| T6553 |
2104-2110 |
NN |
denotes |
region |
| T6554 |
2089-2095 |
JJ |
denotes |
single |
| T6555 |
2096-2103 |
JJ |
denotes |
genomic |
| T6556 |
2111-2115 |
IN |
denotes |
with |
| T6557 |
2116-2127 |
JJ |
denotes |
significant |
| T6558 |
2128-2135 |
NN |
denotes |
linkage |
| T6559 |
2136-2138 |
IN |
denotes |
to |
| T6560 |
2139-2146 |
NN |
denotes |
disease |
| T6561 |
2146-2148 |
, |
denotes |
, |
| T6562 |
2148-2157 |
VBG |
denotes |
providing |
| T6563 |
2158-2159 |
DT |
denotes |
a |
| T6564 |
2174-2179 |
NN |
denotes |
score |
| T6565 |
2160-2163 |
CD |
denotes |
two |
| T6566 |
2164-2169 |
NN |
denotes |
point |
| T6567 |
2163-2164 |
HYPH |
denotes |
- |
| T6568 |
2170-2173 |
NN |
denotes |
LOD |
| T6569 |
2180-2182 |
IN |
denotes |
of |
| T6570 |
2183-2187 |
CD |
denotes |
5.13 |
| T6571 |
2188-2190 |
IN |
denotes |
at |
| T6572 |
2191-2197 |
NN |
denotes |
marker |
| T6573 |
2198-2212 |
NN |
denotes |
20.MMHAP85FLG2 |
| T6574 |
2213-2215 |
IN |
denotes |
on |
| T6575 |
2216-2226 |
NN |
denotes |
Chromosome |
| T6576 |
2227-2231 |
NN |
denotes |
6qE1 |
| T6577 |
2231-2232 |
. |
denotes |
. |
| T6578 |
2232-2330 |
sentence |
denotes |
The linked haplotype suggested the mutation had occurred on the 129x1/SvJ background (Figure S1). |
| T6579 |
2233-2236 |
DT |
denotes |
The |
| T6580 |
2244-2253 |
NN |
denotes |
haplotype |
| T6581 |
2237-2243 |
VBN |
denotes |
linked |
| T6582 |
2254-2263 |
VBD |
denotes |
suggested |
| T6583 |
2264-2267 |
DT |
denotes |
the |
| T6584 |
2268-2276 |
NN |
denotes |
mutation |
| T6585 |
2281-2289 |
VBN |
denotes |
occurred |
| T6586 |
2277-2280 |
VBD |
denotes |
had |
| T6587 |
2290-2292 |
IN |
denotes |
on |
| T6588 |
2293-2296 |
DT |
denotes |
the |
| T6589 |
2307-2317 |
NN |
denotes |
background |
| T6590 |
2297-2302 |
NN |
denotes |
129x1 |
| T6591 |
2303-2306 |
NN |
denotes |
SvJ |
| T6592 |
2302-2303 |
HYPH |
denotes |
/ |
| T6593 |
2318-2319 |
-LRB- |
denotes |
( |
| T6594 |
2326-2328 |
NN |
denotes |
S1 |
| T6595 |
2319-2325 |
NN |
denotes |
Figure |
| T6596 |
2328-2329 |
-RRB- |
denotes |
) |
| T6597 |
2329-2330 |
. |
denotes |
. |
| T6598 |
2330-2504 |
sentence |
denotes |
Literature searches revealed that among disease lines mapped to 6qE1, the spontaneous mutant opt mouse displays a strikingly similar presentation to that described here [1]. |
| T6599 |
2331-2341 |
NN |
denotes |
Literature |
| T6600 |
2342-2350 |
NNS |
denotes |
searches |
| T6601 |
2351-2359 |
VBD |
denotes |
revealed |
| T6602 |
2360-2364 |
IN |
denotes |
that |
| T6603 |
2434-2442 |
VBZ |
denotes |
displays |
| T6604 |
2365-2370 |
IN |
denotes |
among |
| T6605 |
2371-2378 |
NN |
denotes |
disease |
| T6606 |
2379-2384 |
NNS |
denotes |
lines |
| T6607 |
2385-2391 |
VBN |
denotes |
mapped |
| T6608 |
2392-2394 |
IN |
denotes |
to |
| T6609 |
2395-2399 |
NN |
denotes |
6qE1 |
| T6610 |
2399-2401 |
, |
denotes |
, |
| T6611 |
2401-2404 |
DT |
denotes |
the |
| T6612 |
2417-2423 |
NN |
denotes |
mutant |
| T6613 |
2405-2416 |
JJ |
denotes |
spontaneous |
| T6614 |
2424-2427 |
NN |
denotes |
opt |
| T6615 |
2428-2433 |
NN |
denotes |
mouse |
| T6616 |
2443-2444 |
DT |
denotes |
a |
| T6617 |
2464-2476 |
NN |
denotes |
presentation |
| T6618 |
2445-2455 |
RB |
denotes |
strikingly |
| T6619 |
2456-2463 |
JJ |
denotes |
similar |
| T6620 |
2477-2479 |
IN |
denotes |
to |
| T6621 |
2480-2484 |
DT |
denotes |
that |
| T6622 |
2485-2494 |
VBN |
denotes |
described |
| T6623 |
2495-2499 |
RB |
denotes |
here |
| T6624 |
2500-2501 |
-LRB- |
denotes |
[ |
| T6625 |
2501-2502 |
CD |
denotes |
1 |
| T6626 |
2502-2503 |
-RRB- |
denotes |
] |
| T6627 |
2503-2504 |
. |
denotes |
. |
| T6628 |
2504-2705 |
sentence |
denotes |
The underlying genetic lesion causing the opt phenotype is a homozygous in-frame deletion of exons 43 and 44 of the gene Itpr1 (Itpr1opt /opt), encoding inositol 1,4,5-triphosphate receptor 1 (Itpr1). |
| T6629 |
2505-2508 |
DT |
denotes |
The |
| T6630 |
2528-2534 |
NN |
denotes |
lesion |
| T6631 |
2509-2519 |
VBG |
denotes |
underlying |
| T6632 |
2520-2527 |
JJ |
denotes |
genetic |
| T6633 |
2561-2563 |
VBZ |
denotes |
is |
| T6634 |
2535-2542 |
VBG |
denotes |
causing |
| T6635 |
2543-2546 |
DT |
denotes |
the |
| T6636 |
2551-2560 |
NN |
denotes |
phenotype |
| T6637 |
2547-2550 |
NN |
denotes |
opt |
| T6638 |
2564-2565 |
DT |
denotes |
a |
| T6639 |
2586-2594 |
NN |
denotes |
deletion |
| T6640 |
2566-2576 |
JJ |
denotes |
homozygous |
| T6641 |
2577-2579 |
IN |
denotes |
in |
| T6642 |
2580-2585 |
NN |
denotes |
frame |
| T6643 |
2579-2580 |
HYPH |
denotes |
- |
| T6644 |
2595-2597 |
IN |
denotes |
of |
| T6645 |
2598-2603 |
NNS |
denotes |
exons |
| T6646 |
2604-2606 |
CD |
denotes |
43 |
| T6647 |
2607-2610 |
CC |
denotes |
and |
| T6648 |
2611-2613 |
CD |
denotes |
44 |
| T6649 |
2614-2616 |
IN |
denotes |
of |
| T6650 |
2617-2620 |
DT |
denotes |
the |
| T6651 |
2626-2631 |
NN |
denotes |
Itpr1 |
| T6652 |
2621-2625 |
NN |
denotes |
gene |
| T6653 |
2632-2633 |
-LRB- |
denotes |
( |
| T6654 |
2643-2646 |
NN |
denotes |
opt |
| T6655 |
2633-2641 |
NN |
denotes |
Itpr1opt |
| T6656 |
2642-2643 |
HYPH |
denotes |
/ |
| T6657 |
2646-2647 |
-RRB- |
denotes |
) |
| T6658 |
2647-2649 |
, |
denotes |
, |
| T6659 |
2649-2657 |
VBG |
denotes |
encoding |
| T6660 |
2658-2666 |
NN |
denotes |
inositol |
| T6661 |
2686-2694 |
NN |
denotes |
receptor |
| T6662 |
2667-2668 |
CD |
denotes |
1 |
| T6663 |
2671-2672 |
CD |
denotes |
5 |
| T6664 |
2668-2669 |
, |
denotes |
, |
| T6665 |
2669-2670 |
CD |
denotes |
4 |
| T6666 |
2670-2671 |
, |
denotes |
, |
| T6667 |
2673-2685 |
NN |
denotes |
triphosphate |
| T6668 |
2672-2673 |
HYPH |
denotes |
- |
| T6669 |
2695-2696 |
CD |
denotes |
1 |
| T6670 |
2697-2698 |
-LRB- |
denotes |
( |
| T6671 |
2698-2703 |
NN |
denotes |
Itpr1 |
| T6672 |
2703-2704 |
-RRB- |
denotes |
) |
| T6673 |
2704-2705 |
. |
denotes |
. |
| T6674 |
2705-2912 |
sentence |
denotes |
Sequencing of all exons and intron–exon boundaries of Itpr1 in affected mice from the current study revealed a single mutation within Itpr1: a novel in-frame deletion of 18 bp within exon 36 (Itpr1Δ18/Δ18). |
| T6675 |
2706-2716 |
NN |
denotes |
Sequencing |
| T6676 |
2806-2814 |
VBD |
denotes |
revealed |
| T6677 |
2717-2719 |
IN |
denotes |
of |
| T6678 |
2720-2723 |
DT |
denotes |
all |
| T6679 |
2724-2729 |
NNS |
denotes |
exons |
| T6680 |
2730-2733 |
CC |
denotes |
and |
| T6681 |
2734-2740 |
NN |
denotes |
intron |
| T6682 |
2741-2745 |
NN |
denotes |
exon |
| T6683 |
2740-2741 |
HYPH |
denotes |
– |
| T6684 |
2746-2756 |
NNS |
denotes |
boundaries |
| T6685 |
2757-2759 |
IN |
denotes |
of |
| T6686 |
2760-2765 |
NN |
denotes |
Itpr1 |
| T6687 |
2766-2768 |
IN |
denotes |
in |
| T6688 |
2769-2777 |
VBN |
denotes |
affected |
| T6689 |
2778-2782 |
NNS |
denotes |
mice |
| T6690 |
2783-2787 |
IN |
denotes |
from |
| T6691 |
2788-2791 |
DT |
denotes |
the |
| T6692 |
2800-2805 |
NN |
denotes |
study |
| T6693 |
2792-2799 |
JJ |
denotes |
current |
| T6694 |
2815-2816 |
DT |
denotes |
a |
| T6695 |
2824-2832 |
NN |
denotes |
mutation |
| T6696 |
2817-2823 |
JJ |
denotes |
single |
| T6697 |
2833-2839 |
IN |
denotes |
within |
| T6698 |
2840-2845 |
NN |
denotes |
Itpr1 |
| T6699 |
2845-2847 |
: |
denotes |
: |
| T6700 |
2847-2848 |
DT |
denotes |
a |
| T6701 |
2864-2872 |
NN |
denotes |
deletion |
| T6702 |
2849-2854 |
JJ |
denotes |
novel |
| T6703 |
2855-2857 |
IN |
denotes |
in |
| T6704 |
2857-2858 |
HYPH |
denotes |
- |
| T6705 |
2858-2863 |
NN |
denotes |
frame |
| T6706 |
2873-2875 |
IN |
denotes |
of |
| T6707 |
2876-2878 |
CD |
denotes |
18 |
| T6708 |
2879-2881 |
NN |
denotes |
bp |
| T6709 |
2882-2888 |
IN |
denotes |
within |
| T6710 |
2889-2893 |
NN |
denotes |
exon |
| T6711 |
2894-2896 |
CD |
denotes |
36 |
| T6712 |
2897-2898 |
-LRB- |
denotes |
( |
| T6713 |
2907-2910 |
NN |
denotes |
Δ18 |
| T6714 |
2898-2906 |
NN |
denotes |
Itpr1Δ18 |
| T6715 |
2906-2907 |
HYPH |
denotes |
/ |
| T6716 |
2910-2911 |
-RRB- |
denotes |
) |
| T6717 |
2911-2912 |
. |
denotes |
. |
| T6718 |
2912-3083 |
sentence |
denotes |
To confirm the pathogenicity of this mutation we crossed heterozygous mice from the current study (Itpr1wt/Δ18) with mice heterozygous for the opt mutation (Itpr1wt/opt). |
| T6719 |
2913-2915 |
TO |
denotes |
To |
| T6720 |
2916-2923 |
VB |
denotes |
confirm |
| T6721 |
2962-2969 |
VBD |
denotes |
crossed |
| T6722 |
2924-2927 |
DT |
denotes |
the |
| T6723 |
2928-2941 |
NN |
denotes |
pathogenicity |
| T6724 |
2942-2944 |
IN |
denotes |
of |
| T6725 |
2945-2949 |
DT |
denotes |
this |
| T6726 |
2950-2958 |
NN |
denotes |
mutation |
| T6727 |
2959-2961 |
PRP |
denotes |
we |
| T6728 |
2970-2982 |
JJ |
denotes |
heterozygous |
| T6729 |
2983-2987 |
NNS |
denotes |
mice |
| T6730 |
2988-2992 |
IN |
denotes |
from |
| T6731 |
2993-2996 |
DT |
denotes |
the |
| T6732 |
3005-3010 |
NN |
denotes |
study |
| T6733 |
2997-3004 |
JJ |
denotes |
current |
| T6734 |
3011-3012 |
-LRB- |
denotes |
( |
| T6735 |
3020-3023 |
NN |
denotes |
Δ18 |
| T6736 |
3012-3019 |
NN |
denotes |
Itpr1wt |
| T6737 |
3019-3020 |
HYPH |
denotes |
/ |
| T6738 |
3023-3024 |
-RRB- |
denotes |
) |
| T6739 |
3025-3029 |
IN |
denotes |
with |
| T6740 |
3030-3034 |
NNS |
denotes |
mice |
| T6741 |
3035-3047 |
JJ |
denotes |
heterozygous |
| T6742 |
3048-3051 |
IN |
denotes |
for |
| T6743 |
3052-3055 |
DT |
denotes |
the |
| T6744 |
3060-3068 |
NN |
denotes |
mutation |
| T6745 |
3056-3059 |
NN |
denotes |
opt |
| T6746 |
3069-3070 |
-LRB- |
denotes |
( |
| T6747 |
3078-3081 |
NN |
denotes |
opt |
| T6748 |
3070-3077 |
NN |
denotes |
Itpr1wt |
| T6749 |
3077-3078 |
HYPH |
denotes |
/ |
| T6750 |
3081-3082 |
-RRB- |
denotes |
) |
| T6751 |
3082-3083 |
. |
denotes |
. |
| T6752 |
3083-3282 |
sentence |
denotes |
This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice [1]. |
| T6753 |
3084-3088 |
DT |
denotes |
This |
| T6754 |
3089-3097 |
VBD |
denotes |
resulted |
| T6755 |
3098-3100 |
IN |
denotes |
in |
| T6756 |
3101-3104 |
CD |
denotes |
two |
| T6757 |
3105-3112 |
NNS |
denotes |
litters |
| T6758 |
3113-3115 |
IN |
denotes |
of |
| T6759 |
3116-3120 |
NNS |
denotes |
mice |
| T6760 |
3121-3125 |
IN |
denotes |
with |
| T6761 |
3126-3127 |
DT |
denotes |
a |
| T6762 |
3128-3133 |
NN |
denotes |
total |
| T6763 |
3134-3136 |
IN |
denotes |
of |
| T6764 |
3137-3141 |
CD |
denotes |
four |
| T6765 |
3164-3168 |
NNS |
denotes |
pups |
| T6766 |
3142-3150 |
VBN |
denotes |
affected |
| T6767 |
3151-3159 |
NN |
denotes |
Itpr1opt |
| T6768 |
3160-3163 |
NN |
denotes |
Δ18 |
| T6769 |
3159-3160 |
HYPH |
denotes |
/ |
| T6770 |
3169-3170 |
-LRB- |
denotes |
( |
| T6771 |
3170-3174 |
IN |
denotes |
from |
| T6772 |
3175-3176 |
DT |
denotes |
a |
| T6773 |
3177-3182 |
NN |
denotes |
total |
| T6774 |
3183-3185 |
IN |
denotes |
of |
| T6775 |
3186-3188 |
CD |
denotes |
15 |
| T6776 |
3188-3189 |
-RRB- |
denotes |
) |
| T6777 |
3190-3194 |
IN |
denotes |
with |
| T6778 |
3195-3196 |
DT |
denotes |
a |
| T6779 |
3197-3206 |
NN |
denotes |
phenotype |
| T6780 |
3207-3224 |
JJ |
denotes |
indistinguishable |
| T6781 |
3225-3229 |
IN |
denotes |
from |
| T6782 |
3230-3234 |
DT |
denotes |
that |
| T6783 |
3235-3237 |
IN |
denotes |
of |
| T6784 |
3238-3241 |
DT |
denotes |
the |
| T6785 |
3273-3277 |
NNS |
denotes |
mice |
| T6786 |
3242-3250 |
NN |
denotes |
Itpr1Δ18 |
| T6787 |
3251-3254 |
NN |
denotes |
Δ18 |
| T6788 |
3250-3251 |
HYPH |
denotes |
/ |
| T6789 |
3255-3258 |
CC |
denotes |
and |
| T6790 |
3259-3267 |
NN |
denotes |
Itpr1opt |
| T6791 |
3269-3272 |
NN |
denotes |
opt |
| T6792 |
3268-3269 |
HYPH |
denotes |
/ |
| T6793 |
3278-3279 |
-LRB- |
denotes |
[ |
| T6794 |
3279-3280 |
CD |
denotes |
1 |
| T6795 |
3280-3281 |
-RRB- |
denotes |
] |
| T6796 |
3281-3282 |
. |
denotes |
. |
| T6797 |
3282-3467 |
sentence |
denotes |
Furthermore, this phenotype was similar, although less severe, to that described in a mouse line with targeted deletion of Itpr1, where ataxia was described as a prominent feature [4]. |
| T6798 |
3283-3294 |
RB |
denotes |
Furthermore |
| T6799 |
3311-3314 |
VBD |
denotes |
was |
| T6800 |
3294-3296 |
, |
denotes |
, |
| T6801 |
3296-3300 |
DT |
denotes |
this |
| T6802 |
3301-3310 |
NN |
denotes |
phenotype |
| T6803 |
3315-3322 |
JJ |
denotes |
similar |
| T6804 |
3322-3324 |
, |
denotes |
, |
| T6805 |
3324-3332 |
IN |
denotes |
although |
| T6806 |
3338-3344 |
JJ |
denotes |
severe |
| T6807 |
3333-3337 |
RBR |
denotes |
less |
| T6808 |
3344-3346 |
, |
denotes |
, |
| T6809 |
3346-3348 |
IN |
denotes |
to |
| T6810 |
3349-3353 |
DT |
denotes |
that |
| T6811 |
3354-3363 |
VBN |
denotes |
described |
| T6812 |
3364-3366 |
IN |
denotes |
in |
| T6813 |
3367-3368 |
DT |
denotes |
a |
| T6814 |
3375-3379 |
NN |
denotes |
line |
| T6815 |
3369-3374 |
NN |
denotes |
mouse |
| T6816 |
3380-3384 |
IN |
denotes |
with |
| T6817 |
3385-3393 |
VBN |
denotes |
targeted |
| T6818 |
3394-3402 |
NN |
denotes |
deletion |
| T6819 |
3403-3405 |
IN |
denotes |
of |
| T6820 |
3406-3411 |
NN |
denotes |
Itpr1 |
| T6821 |
3411-3413 |
, |
denotes |
, |
| T6822 |
3413-3418 |
WRB |
denotes |
where |
| T6823 |
3430-3439 |
VBN |
denotes |
described |
| T6824 |
3419-3425 |
NN |
denotes |
ataxia |
| T6825 |
3426-3429 |
VBD |
denotes |
was |
| T6826 |
3440-3442 |
IN |
denotes |
as |
| T6827 |
3443-3444 |
DT |
denotes |
a |
| T6828 |
3455-3462 |
NN |
denotes |
feature |
| T6829 |
3445-3454 |
JJ |
denotes |
prominent |
| T6830 |
3463-3464 |
-LRB- |
denotes |
[ |
| T6831 |
3464-3465 |
CD |
denotes |
4 |
| T6832 |
3465-3466 |
-RRB- |
denotes |
] |
| T6833 |
3466-3467 |
. |
denotes |
. |
| T6834 |
3467-3728 |
sentence |
denotes |
As with the Itpr1opt /opt mice, where the deletion of exons 43 and 44 is also predicted to leave the translational reading frame unaffected, the in-frame Itpr1Δ18/Δ18 deletion mutation results in markedly decreased levels of Itpr1 in cerebellar Purkinje cells. |
| T6835 |
3468-3470 |
IN |
denotes |
As |
| T6836 |
3653-3660 |
VBZ |
denotes |
results |
| T6837 |
3471-3475 |
IN |
denotes |
with |
| T6838 |
3476-3479 |
DT |
denotes |
the |
| T6839 |
3494-3498 |
NNS |
denotes |
mice |
| T6840 |
3480-3488 |
NN |
denotes |
Itpr1opt |
| T6841 |
3490-3493 |
NN |
denotes |
opt |
| T6842 |
3489-3490 |
HYPH |
denotes |
/ |
| T6843 |
3498-3500 |
, |
denotes |
, |
| T6844 |
3500-3505 |
WRB |
denotes |
where |
| T6845 |
3546-3555 |
VBN |
denotes |
predicted |
| T6846 |
3506-3509 |
DT |
denotes |
the |
| T6847 |
3510-3518 |
NN |
denotes |
deletion |
| T6848 |
3519-3521 |
IN |
denotes |
of |
| T6849 |
3522-3527 |
NNS |
denotes |
exons |
| T6850 |
3528-3530 |
CD |
denotes |
43 |
| T6851 |
3531-3534 |
CC |
denotes |
and |
| T6852 |
3535-3537 |
CD |
denotes |
44 |
| T6853 |
3538-3540 |
VBZ |
denotes |
is |
| T6854 |
3541-3545 |
RB |
denotes |
also |
| T6855 |
3556-3558 |
TO |
denotes |
to |
| T6856 |
3559-3564 |
VB |
denotes |
leave |
| T6857 |
3565-3568 |
DT |
denotes |
the |
| T6858 |
3591-3596 |
NN |
denotes |
frame |
| T6859 |
3569-3582 |
JJ |
denotes |
translational |
| T6860 |
3583-3590 |
NN |
denotes |
reading |
| T6861 |
3597-3607 |
JJ |
denotes |
unaffected |
| T6862 |
3607-3609 |
, |
denotes |
, |
| T6863 |
3609-3612 |
DT |
denotes |
the |
| T6864 |
3644-3652 |
NN |
denotes |
mutation |
| T6865 |
3613-3615 |
IN |
denotes |
in |
| T6866 |
3615-3616 |
HYPH |
denotes |
- |
| T6867 |
3616-3621 |
NN |
denotes |
frame |
| T6868 |
3622-3630 |
NN |
denotes |
Itpr1Δ18 |
| T6869 |
3631-3634 |
NN |
denotes |
Δ18 |
| T6870 |
3630-3631 |
HYPH |
denotes |
/ |
| T6871 |
3635-3643 |
NN |
denotes |
deletion |
| T6872 |
3661-3663 |
IN |
denotes |
in |
| T6873 |
3664-3672 |
RB |
denotes |
markedly |
| T6874 |
3673-3682 |
VBN |
denotes |
decreased |
| T6875 |
3683-3689 |
NNS |
denotes |
levels |
| T6876 |
3690-3692 |
IN |
denotes |
of |
| T6877 |
3693-3698 |
NN |
denotes |
Itpr1 |
| T6878 |
3699-3701 |
IN |
denotes |
in |
| T6879 |
3702-3712 |
JJ |
denotes |
cerebellar |
| T6880 |
3722-3727 |
NNS |
denotes |
cells |
| T6881 |
3713-3721 |
NNP |
denotes |
Purkinje |
| T6882 |
3727-3728 |
. |
denotes |
. |
| T6883 |
3728-3936 |
sentence |
denotes |
In these two spontaneous mutants [1] and in the Itpr1-deficient mouse [4] generated by gene targeting, decreased Itpr1 expression is associated with the same autosomal recessive movement disorder (Figure 1). |
| T6884 |
3729-3731 |
IN |
denotes |
In |
| T6885 |
3862-3872 |
VBN |
denotes |
associated |
| T6886 |
3732-3737 |
DT |
denotes |
these |
| T6887 |
3754-3761 |
NNS |
denotes |
mutants |
| T6888 |
3738-3741 |
CD |
denotes |
two |
| T6889 |
3742-3753 |
JJ |
denotes |
spontaneous |
| T6890 |
3762-3763 |
-LRB- |
denotes |
[ |
| T6891 |
3763-3764 |
CD |
denotes |
1 |
| T6892 |
3764-3765 |
-RRB- |
denotes |
] |
| T6893 |
3766-3769 |
CC |
denotes |
and |
| T6894 |
3770-3772 |
IN |
denotes |
in |
| T6895 |
3773-3776 |
DT |
denotes |
the |
| T6896 |
3793-3798 |
NN |
denotes |
mouse |
| T6897 |
3777-3782 |
NN |
denotes |
Itpr1 |
| T6898 |
3783-3792 |
JJ |
denotes |
deficient |
| T6899 |
3782-3783 |
HYPH |
denotes |
- |
| T6900 |
3799-3800 |
-LRB- |
denotes |
[ |
| T6901 |
3800-3801 |
CD |
denotes |
4 |
| T6902 |
3801-3802 |
-RRB- |
denotes |
] |
| T6903 |
3803-3812 |
VBN |
denotes |
generated |
| T6904 |
3813-3815 |
IN |
denotes |
by |
| T6905 |
3816-3820 |
NN |
denotes |
gene |
| T6906 |
3821-3830 |
NN |
denotes |
targeting |
| T6907 |
3830-3832 |
, |
denotes |
, |
| T6908 |
3832-3841 |
VBN |
denotes |
decreased |
| T6909 |
3848-3858 |
NN |
denotes |
expression |
| T6910 |
3842-3847 |
NN |
denotes |
Itpr1 |
| T6911 |
3859-3861 |
VBZ |
denotes |
is |
| T6912 |
3873-3877 |
IN |
denotes |
with |
| T6913 |
3878-3881 |
DT |
denotes |
the |
| T6914 |
3916-3924 |
NN |
denotes |
disorder |
| T6915 |
3882-3886 |
JJ |
denotes |
same |
| T6916 |
3887-3896 |
JJ |
denotes |
autosomal |
| T6917 |
3897-3906 |
JJ |
denotes |
recessive |
| T6918 |
3907-3915 |
NN |
denotes |
movement |
| T6919 |
3925-3926 |
-LRB- |
denotes |
( |
| T6920 |
3926-3932 |
NN |
denotes |
Figure |
| T6921 |
3933-3934 |
CD |
denotes |
1 |
| T6922 |
3934-3935 |
-RRB- |
denotes |
) |
| T6923 |
3935-3936 |
. |
denotes |
. |
| T6924 |
3936-5125 |
sentence |
denotes |
Figure 1 Immunohistochemistry and Western Blot Analysis of ITPR1 Protein Levels in Mouse Cerebellum
(A–F) Immunohistochemistry of cerebellum from a wild-type mouse (A and D), a mouse heterozygous for the Itpr1 18-bp deletion (B and E), and a mouse homozygous for the 18-bp Itpr1 deletion (C and F). (A–C) Immunohistochemistry using polyclonal Itpr1 anti-rabbit antibody (1:2,000; Alexa Fluor 555); (D–F) immunohistochemistry using monoclonal Calb1 anti-mouse antibody (1:6,000; Alexa Fluor 488). Scale bars denote 100 μm. As previously described, Iptr1 is highly expressed in the Purkinje cells. Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice.
(G) Western blot performed to examine Itpr1 levels in whole brain from wild-type, Itpr1wt/Δ18, and Itpr1Δ18/Δ18 mice; this clearly shows a reduction of Itpr1 in brain tissue from Itpr1wt/Δ18 mice and a greater reduction of Itpr1 in Itpr1Δ18/Δ18 mice. Given our interest in human neurological disease we sought to identify any cognate human disorders where linkage had been established to the syntenic region of the human genome, but where no causal mutation had been identified. |
| T6925 |
4898-4903 |
VBN |
denotes |
Given |
| T6926 |
4950-4956 |
VBD |
denotes |
sought |
| T6927 |
4904-4907 |
PRP$ |
denotes |
our |
| T6928 |
4908-4916 |
NN |
denotes |
interest |
| T6929 |
4917-4919 |
IN |
denotes |
in |
| T6930 |
4920-4925 |
JJ |
denotes |
human |
| T6931 |
4939-4946 |
NN |
denotes |
disease |
| T6932 |
4926-4938 |
JJ |
denotes |
neurological |
| T6933 |
4947-4949 |
PRP |
denotes |
we |
| T6934 |
4957-4959 |
TO |
denotes |
to |
| T6935 |
4960-4968 |
VB |
denotes |
identify |
| T6936 |
4969-4972 |
DT |
denotes |
any |
| T6937 |
4987-4996 |
NNS |
denotes |
disorders |
| T6938 |
4973-4980 |
JJ |
denotes |
cognate |
| T6939 |
4981-4986 |
JJ |
denotes |
human |
| T6940 |
4997-5002 |
WRB |
denotes |
where |
| T6941 |
5020-5031 |
VBN |
denotes |
established |
| T6942 |
5003-5010 |
NN |
denotes |
linkage |
| T6943 |
5011-5014 |
VBD |
denotes |
had |
| T6944 |
5015-5019 |
VBN |
denotes |
been |
| T6945 |
5032-5034 |
IN |
denotes |
to |
| T6946 |
5035-5038 |
DT |
denotes |
the |
| T6947 |
5048-5054 |
NN |
denotes |
region |
| T6948 |
5039-5047 |
JJ |
denotes |
syntenic |
| T6949 |
5055-5057 |
IN |
denotes |
of |
| T6950 |
5058-5061 |
DT |
denotes |
the |
| T6951 |
5068-5074 |
NN |
denotes |
genome |
| T6952 |
5062-5067 |
JJ |
denotes |
human |
| T6953 |
5074-5076 |
, |
denotes |
, |
| T6954 |
5076-5079 |
CC |
denotes |
but |
| T6955 |
5080-5085 |
WRB |
denotes |
where |
| T6956 |
5114-5124 |
VBN |
denotes |
identified |
| T6957 |
5086-5088 |
DT |
denotes |
no |
| T6958 |
5096-5104 |
NN |
denotes |
mutation |
| T6959 |
5089-5095 |
JJ |
denotes |
causal |
| T6960 |
5105-5108 |
VBD |
denotes |
had |
| T6961 |
5109-5113 |
VBN |
denotes |
been |
| T6962 |
5124-5125 |
. |
denotes |
. |
| T6963 |
5125-5214 |
sentence |
denotes |
SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5]. |
| T6964 |
5126-5131 |
NN |
denotes |
SCA15 |
| T6965 |
5189-5195 |
VBN |
denotes |
linked |
| T6966 |
5131-5133 |
, |
denotes |
, |
| T6967 |
5133-5135 |
DT |
denotes |
an |
| T6968 |
5179-5185 |
NN |
denotes |
ataxia |
| T6969 |
5136-5141 |
JJ |
denotes |
adult |
| T6970 |
5142-5147 |
NN |
denotes |
onset |
| T6971 |
5141-5142 |
HYPH |
denotes |
- |
| T6972 |
5148-5157 |
JJ |
denotes |
autosomal |
| T6973 |
5158-5166 |
JJ |
denotes |
dominant |
| T6974 |
5167-5178 |
JJ |
denotes |
progressive |
| T6975 |
5186-5188 |
VBZ |
denotes |
is |
| T6976 |
5196-5198 |
IN |
denotes |
to |
| T6977 |
5199-5203 |
DT |
denotes |
this |
| T6978 |
5204-5209 |
NN |
denotes |
locus |
| T6979 |
5210-5211 |
-LRB- |
denotes |
[ |
| T6980 |
5211-5212 |
CD |
denotes |
5 |
| T6981 |
5212-5213 |
-RRB- |
denotes |
] |
| T6982 |
5213-5214 |
. |
denotes |
. |
| T6983 |
5214-5495 |
sentence |
denotes |
Although missense mutation of ITPR1 had previously been ruled out [2] and the mode of inheritance was inconsistent with that seen in the Itpr1Δ18 and Itpr1opt mice, the phenotypic presence of ataxia in the mice led us to reexamine this candidate gene as a possible cause of SCA15. |
| T6984 |
5215-5223 |
IN |
denotes |
Although |
| T6985 |
5271-5276 |
VBN |
denotes |
ruled |
| T6986 |
5224-5232 |
NN |
denotes |
missense |
| T6987 |
5233-5241 |
NN |
denotes |
mutation |
| T6988 |
5242-5244 |
IN |
denotes |
of |
| T6989 |
5245-5250 |
NN |
denotes |
ITPR1 |
| T6990 |
5251-5254 |
VBD |
denotes |
had |
| T6991 |
5255-5265 |
RB |
denotes |
previously |
| T6992 |
5266-5270 |
VBN |
denotes |
been |
| T6993 |
5426-5429 |
VBD |
denotes |
led |
| T6994 |
5277-5280 |
RP |
denotes |
out |
| T6995 |
5281-5282 |
-LRB- |
denotes |
[ |
| T6996 |
5282-5283 |
CD |
denotes |
2 |
| T6997 |
5283-5284 |
-RRB- |
denotes |
] |
| T6998 |
5285-5288 |
CC |
denotes |
and |
| T6999 |
5289-5292 |
DT |
denotes |
the |
| T7000 |
5293-5297 |
NN |
denotes |
mode |
| T7001 |
5313-5316 |
VBD |
denotes |
was |
| T7002 |
5298-5300 |
IN |
denotes |
of |
| T7003 |
5301-5312 |
NN |
denotes |
inheritance |
| T7004 |
5317-5329 |
JJ |
denotes |
inconsistent |
| T7005 |
5330-5334 |
IN |
denotes |
with |
| T7006 |
5335-5339 |
DT |
denotes |
that |
| T7007 |
5340-5344 |
VBN |
denotes |
seen |
| T7008 |
5345-5347 |
IN |
denotes |
in |
| T7009 |
5348-5351 |
DT |
denotes |
the |
| T7010 |
5374-5378 |
NNS |
denotes |
mice |
| T7011 |
5352-5360 |
NN |
denotes |
Itpr1Δ18 |
| T7012 |
5361-5364 |
CC |
denotes |
and |
| T7013 |
5365-5373 |
NN |
denotes |
Itpr1opt |
| T7014 |
5378-5380 |
, |
denotes |
, |
| T7015 |
5380-5383 |
DT |
denotes |
the |
| T7016 |
5395-5403 |
NN |
denotes |
presence |
| T7017 |
5384-5394 |
JJ |
denotes |
phenotypic |
| T7018 |
5404-5406 |
IN |
denotes |
of |
| T7019 |
5407-5413 |
NN |
denotes |
ataxia |
| T7020 |
5414-5416 |
IN |
denotes |
in |
| T7021 |
5417-5420 |
DT |
denotes |
the |
| T7022 |
5421-5425 |
NNS |
denotes |
mice |
| T7023 |
5430-5432 |
PRP |
denotes |
us |
| T7024 |
5433-5435 |
TO |
denotes |
to |
| T7025 |
5436-5445 |
VB |
denotes |
reexamine |
| T7026 |
5446-5450 |
DT |
denotes |
this |
| T7027 |
5461-5465 |
NN |
denotes |
gene |
| T7028 |
5451-5460 |
NN |
denotes |
candidate |
| T7029 |
5466-5468 |
IN |
denotes |
as |
| T7030 |
5469-5470 |
DT |
denotes |
a |
| T7031 |
5480-5485 |
NN |
denotes |
cause |
| T7032 |
5471-5479 |
JJ |
denotes |
possible |
| T7033 |
5486-5488 |
IN |
denotes |
of |
| T7034 |
5489-5494 |
NN |
denotes |
SCA15 |
| T7035 |
5494-5495 |
. |
denotes |
. |
| T7036 |
5495-5715 |
sentence |
denotes |
We obtained genomic DNA from three affected family members and one family member with unknown disease status from the kindred originally used to define and map SCA15 (family AUS1, of Australian Anglo-Celtic origin) [2]. |
| T7037 |
5496-5498 |
PRP |
denotes |
We |
| T7038 |
5499-5507 |
VBD |
denotes |
obtained |
| T7039 |
5508-5515 |
JJ |
denotes |
genomic |
| T7040 |
5516-5519 |
NN |
denotes |
DNA |
| T7041 |
5520-5524 |
IN |
denotes |
from |
| T7042 |
5525-5530 |
CD |
denotes |
three |
| T7043 |
5547-5554 |
NNS |
denotes |
members |
| T7044 |
5531-5539 |
VBN |
denotes |
affected |
| T7045 |
5540-5546 |
NN |
denotes |
family |
| T7046 |
5555-5558 |
CC |
denotes |
and |
| T7047 |
5559-5562 |
CD |
denotes |
one |
| T7048 |
5570-5576 |
NN |
denotes |
member |
| T7049 |
5563-5569 |
NN |
denotes |
family |
| T7050 |
5577-5581 |
IN |
denotes |
with |
| T7051 |
5582-5589 |
JJ |
denotes |
unknown |
| T7052 |
5598-5604 |
NN |
denotes |
status |
| T7053 |
5590-5597 |
NN |
denotes |
disease |
| T7054 |
5605-5609 |
IN |
denotes |
from |
| T7055 |
5610-5613 |
DT |
denotes |
the |
| T7056 |
5614-5621 |
NN |
denotes |
kindred |
| T7057 |
5622-5632 |
RB |
denotes |
originally |
| T7058 |
5633-5637 |
VBN |
denotes |
used |
| T7059 |
5638-5640 |
TO |
denotes |
to |
| T7060 |
5641-5647 |
VB |
denotes |
define |
| T7061 |
5648-5651 |
CC |
denotes |
and |
| T7062 |
5652-5655 |
VB |
denotes |
map |
| T7063 |
5656-5661 |
NN |
denotes |
SCA15 |
| T7064 |
5662-5663 |
-LRB- |
denotes |
( |
| T7065 |
5670-5674 |
NN |
denotes |
AUS1 |
| T7066 |
5663-5669 |
NN |
denotes |
family |
| T7067 |
5674-5676 |
, |
denotes |
, |
| T7068 |
5676-5678 |
IN |
denotes |
of |
| T7069 |
5679-5689 |
JJ |
denotes |
Australian |
| T7070 |
5703-5709 |
NN |
denotes |
origin |
| T7071 |
5690-5695 |
AFX |
denotes |
Anglo |
| T7072 |
5696-5702 |
JJ |
denotes |
Celtic |
| T7073 |
5695-5696 |
HYPH |
denotes |
- |
| T7074 |
5709-5710 |
-RRB- |
denotes |
) |
| T7075 |
5711-5712 |
-LRB- |
denotes |
[ |
| T7076 |
5712-5713 |
CD |
denotes |
2 |
| T7077 |
5713-5714 |
-RRB- |
denotes |
] |
| T7078 |
5714-5715 |
. |
denotes |
. |
| T7079 |
5715-5891 |
sentence |
denotes |
We performed two experiments concurrently in three affected members of this family: sequence analysis of the coding exons of ITPR1 and high-density genome-wide SNP genotyping. |
| T7080 |
5716-5718 |
PRP |
denotes |
We |
| T7081 |
5719-5728 |
VBD |
denotes |
performed |
| T7082 |
5729-5732 |
CD |
denotes |
two |
| T7083 |
5733-5744 |
NNS |
denotes |
experiments |
| T7084 |
5745-5757 |
RB |
denotes |
concurrently |
| T7085 |
5758-5760 |
IN |
denotes |
in |
| T7086 |
5761-5766 |
CD |
denotes |
three |
| T7087 |
5776-5783 |
NNS |
denotes |
members |
| T7088 |
5767-5775 |
VBN |
denotes |
affected |
| T7089 |
5784-5786 |
IN |
denotes |
of |
| T7090 |
5787-5791 |
DT |
denotes |
this |
| T7091 |
5792-5798 |
NN |
denotes |
family |
| T7092 |
5798-5800 |
: |
denotes |
: |
| T7093 |
5800-5808 |
NN |
denotes |
sequence |
| T7094 |
5809-5817 |
NN |
denotes |
analysis |
| T7095 |
5818-5820 |
IN |
denotes |
of |
| T7096 |
5821-5824 |
DT |
denotes |
the |
| T7097 |
5832-5837 |
NNS |
denotes |
exons |
| T7098 |
5825-5831 |
VBG |
denotes |
coding |
| T7099 |
5838-5840 |
IN |
denotes |
of |
| T7100 |
5841-5846 |
NN |
denotes |
ITPR1 |
| T7101 |
5847-5850 |
CC |
denotes |
and |
| T7102 |
5851-5855 |
JJ |
denotes |
high |
| T7103 |
5856-5863 |
NN |
denotes |
density |
| T7104 |
5855-5856 |
HYPH |
denotes |
- |
| T7105 |
5880-5890 |
NN |
denotes |
genotyping |
| T7106 |
5864-5870 |
NN |
denotes |
genome |
| T7107 |
5870-5871 |
HYPH |
denotes |
- |
| T7108 |
5871-5875 |
JJ |
denotes |
wide |
| T7109 |
5876-5879 |
NN |
denotes |
SNP |
| T7110 |
5890-5891 |
. |
denotes |
. |
| T7111 |
5891-6072 |
sentence |
denotes |
Sequence analysis failed to show any coding alterations segregating with disease or any alterations that were inconsistent with Mendelian patterns of inheritance within the family. |
| T7112 |
5892-5900 |
NN |
denotes |
Sequence |
| T7113 |
5901-5909 |
NN |
denotes |
analysis |
| T7114 |
5910-5916 |
VBD |
denotes |
failed |
| T7115 |
5917-5919 |
TO |
denotes |
to |
| T7116 |
5920-5924 |
VB |
denotes |
show |
| T7117 |
5925-5928 |
DT |
denotes |
any |
| T7118 |
5936-5947 |
NNS |
denotes |
alterations |
| T7119 |
5929-5935 |
NN |
denotes |
coding |
| T7120 |
5948-5959 |
VBG |
denotes |
segregating |
| T7121 |
5960-5964 |
IN |
denotes |
with |
| T7122 |
5965-5972 |
NN |
denotes |
disease |
| T7123 |
5973-5975 |
CC |
denotes |
or |
| T7124 |
5976-5979 |
DT |
denotes |
any |
| T7125 |
5980-5991 |
NNS |
denotes |
alterations |
| T7126 |
5992-5996 |
WDT |
denotes |
that |
| T7127 |
5997-6001 |
VBD |
denotes |
were |
| T7128 |
6002-6014 |
JJ |
denotes |
inconsistent |
| T7129 |
6015-6019 |
IN |
denotes |
with |
| T7130 |
6020-6029 |
JJ |
denotes |
Mendelian |
| T7131 |
6030-6038 |
NNS |
denotes |
patterns |
| T7132 |
6039-6041 |
IN |
denotes |
of |
| T7133 |
6042-6053 |
NN |
denotes |
inheritance |
| T7134 |
6054-6060 |
IN |
denotes |
within |
| T7135 |
6061-6064 |
DT |
denotes |
the |
| T7136 |
6065-6071 |
NN |
denotes |
family |
| T7137 |
6071-6072 |
. |
denotes |
. |
| T7138 |
6072-6360 |
sentence |
denotes |
However, visualization of log R ratio and B allele frequency metrics from the genome-wide SNP genotyping experiments clearly showed data consistent with a heterozygous genomic deletion across the first one-third of ITPR1 and across the first half of a neighboring gene, SUMF1 (Figure 2). |
| T7139 |
6073-6080 |
RB |
denotes |
However |
| T7140 |
6198-6204 |
VBD |
denotes |
showed |
| T7141 |
6080-6082 |
, |
denotes |
, |
| T7142 |
6082-6095 |
NN |
denotes |
visualization |
| T7143 |
6096-6098 |
IN |
denotes |
of |
| T7144 |
6099-6102 |
NN |
denotes |
log |
| T7145 |
6103-6104 |
NN |
denotes |
R |
| T7146 |
6105-6110 |
NN |
denotes |
ratio |
| T7147 |
6111-6114 |
CC |
denotes |
and |
| T7148 |
6115-6116 |
NN |
denotes |
B |
| T7149 |
6117-6123 |
NN |
denotes |
allele |
| T7150 |
6134-6141 |
NNS |
denotes |
metrics |
| T7151 |
6124-6133 |
NN |
denotes |
frequency |
| T7152 |
6142-6146 |
IN |
denotes |
from |
| T7153 |
6147-6150 |
DT |
denotes |
the |
| T7154 |
6178-6189 |
NNS |
denotes |
experiments |
| T7155 |
6151-6157 |
NN |
denotes |
genome |
| T7156 |
6158-6162 |
JJ |
denotes |
wide |
| T7157 |
6157-6158 |
HYPH |
denotes |
- |
| T7158 |
6163-6166 |
NN |
denotes |
SNP |
| T7159 |
6167-6177 |
NN |
denotes |
genotyping |
| T7160 |
6190-6197 |
RB |
denotes |
clearly |
| T7161 |
6205-6209 |
NNS |
denotes |
data |
| T7162 |
6210-6220 |
JJ |
denotes |
consistent |
| T7163 |
6221-6225 |
IN |
denotes |
with |
| T7164 |
6226-6227 |
DT |
denotes |
a |
| T7165 |
6249-6257 |
NN |
denotes |
deletion |
| T7166 |
6228-6240 |
JJ |
denotes |
heterozygous |
| T7167 |
6241-6248 |
JJ |
denotes |
genomic |
| T7168 |
6258-6264 |
IN |
denotes |
across |
| T7169 |
6265-6268 |
DT |
denotes |
the |
| T7170 |
6279-6284 |
NN |
denotes |
third |
| T7171 |
6269-6274 |
JJ |
denotes |
first |
| T7172 |
6275-6278 |
CD |
denotes |
one |
| T7173 |
6278-6279 |
HYPH |
denotes |
- |
| T7174 |
6285-6287 |
IN |
denotes |
of |
| T7175 |
6288-6293 |
NN |
denotes |
ITPR1 |
| T7176 |
6294-6297 |
CC |
denotes |
and |
| T7177 |
6298-6304 |
IN |
denotes |
across |
| T7178 |
6305-6308 |
DT |
denotes |
the |
| T7179 |
6315-6319 |
NN |
denotes |
half |
| T7180 |
6309-6314 |
JJ |
denotes |
first |
| T7181 |
6320-6322 |
IN |
denotes |
of |
| T7182 |
6323-6324 |
DT |
denotes |
a |
| T7183 |
6337-6341 |
NN |
denotes |
gene |
| T7184 |
6325-6336 |
JJ |
denotes |
neighboring |
| T7185 |
6341-6343 |
, |
denotes |
, |
| T7186 |
6343-6348 |
NN |
denotes |
SUMF1 |
| T7187 |
6349-6350 |
-LRB- |
denotes |
( |
| T7188 |
6350-6356 |
NN |
denotes |
Figure |
| T7189 |
6357-6358 |
CD |
denotes |
2 |
| T7190 |
6358-6359 |
-RRB- |
denotes |
) |
| T7191 |
6359-6360 |
. |
denotes |
. |
| T7192 |
6360-6508 |
sentence |
denotes |
This deletion was apparent in all three affected family members studied and absent from the family member with unknown affection status (Figure 3). |
| T7193 |
6361-6365 |
DT |
denotes |
This |
| T7194 |
6366-6374 |
NN |
denotes |
deletion |
| T7195 |
6375-6378 |
VBD |
denotes |
was |
| T7196 |
6379-6387 |
JJ |
denotes |
apparent |
| T7197 |
6388-6390 |
IN |
denotes |
in |
| T7198 |
6391-6394 |
DT |
denotes |
all |
| T7199 |
6417-6424 |
NNS |
denotes |
members |
| T7200 |
6395-6400 |
CD |
denotes |
three |
| T7201 |
6401-6409 |
VBN |
denotes |
affected |
| T7202 |
6410-6416 |
NN |
denotes |
family |
| T7203 |
6425-6432 |
VBN |
denotes |
studied |
| T7204 |
6433-6436 |
CC |
denotes |
and |
| T7205 |
6437-6443 |
JJ |
denotes |
absent |
| T7206 |
6444-6448 |
IN |
denotes |
from |
| T7207 |
6449-6452 |
DT |
denotes |
the |
| T7208 |
6460-6466 |
NN |
denotes |
member |
| T7209 |
6453-6459 |
NN |
denotes |
family |
| T7210 |
6467-6471 |
IN |
denotes |
with |
| T7211 |
6472-6479 |
JJ |
denotes |
unknown |
| T7212 |
6490-6496 |
NN |
denotes |
status |
| T7213 |
6480-6489 |
NN |
denotes |
affection |
| T7214 |
6497-6498 |
-LRB- |
denotes |
( |
| T7215 |
6498-6504 |
NN |
denotes |
Figure |
| T7216 |
6505-6506 |
CD |
denotes |
3 |
| T7217 |
6506-6507 |
-RRB- |
denotes |
) |
| T7218 |
6507-6508 |
. |
denotes |
. |
| T7219 |
6508-6867 |
sentence |
denotes |
The SNP data showed a deletion of between 188 kb and 210 kb in size; examination of SNPs at the flanking unknown regions of this deletion allowed us to delimit the borders of the deletion to 7.5 kb on the telomeric side of the deletion (between rs12634249 and rs793396) and ~14.4 kb on the centromeric side of the deletion (between rs4073665 and rs17709863). |
| T7220 |
6509-6512 |
DT |
denotes |
The |
| T7221 |
6517-6521 |
NNS |
denotes |
data |
| T7222 |
6513-6516 |
NN |
denotes |
SNP |
| T7223 |
6522-6528 |
VBD |
denotes |
showed |
| T7224 |
6647-6654 |
VBD |
denotes |
allowed |
| T7225 |
6529-6530 |
DT |
denotes |
a |
| T7226 |
6531-6539 |
NN |
denotes |
deletion |
| T7227 |
6540-6542 |
IN |
denotes |
of |
| T7228 |
6543-6550 |
IN |
denotes |
between |
| T7229 |
6551-6554 |
CD |
denotes |
188 |
| T7230 |
6555-6557 |
NN |
denotes |
kb |
| T7231 |
6558-6561 |
CC |
denotes |
and |
| T7232 |
6562-6565 |
CD |
denotes |
210 |
| T7233 |
6566-6568 |
NN |
denotes |
kb |
| T7234 |
6569-6571 |
IN |
denotes |
in |
| T7235 |
6572-6576 |
NN |
denotes |
size |
| T7236 |
6576-6577 |
: |
denotes |
; |
| T7237 |
6578-6589 |
NN |
denotes |
examination |
| T7238 |
6590-6592 |
IN |
denotes |
of |
| T7239 |
6593-6597 |
NNS |
denotes |
SNPs |
| T7240 |
6598-6600 |
IN |
denotes |
at |
| T7241 |
6601-6604 |
DT |
denotes |
the |
| T7242 |
6622-6629 |
NNS |
denotes |
regions |
| T7243 |
6605-6613 |
VBG |
denotes |
flanking |
| T7244 |
6614-6621 |
JJ |
denotes |
unknown |
| T7245 |
6630-6632 |
IN |
denotes |
of |
| T7246 |
6633-6637 |
DT |
denotes |
this |
| T7247 |
6638-6646 |
NN |
denotes |
deletion |
| T7248 |
6655-6657 |
PRP |
denotes |
us |
| T7249 |
6661-6668 |
VB |
denotes |
delimit |
| T7250 |
6658-6660 |
TO |
denotes |
to |
| T7251 |
6669-6672 |
DT |
denotes |
the |
| T7252 |
6673-6680 |
NNS |
denotes |
borders |
| T7253 |
6681-6683 |
IN |
denotes |
of |
| T7254 |
6684-6687 |
DT |
denotes |
the |
| T7255 |
6688-6696 |
NN |
denotes |
deletion |
| T7256 |
6697-6699 |
IN |
denotes |
to |
| T7257 |
6700-6703 |
CD |
denotes |
7.5 |
| T7258 |
6704-6706 |
NN |
denotes |
kb |
| T7259 |
6707-6709 |
IN |
denotes |
on |
| T7260 |
6710-6713 |
DT |
denotes |
the |
| T7261 |
6724-6728 |
NN |
denotes |
side |
| T7262 |
6714-6723 |
JJ |
denotes |
telomeric |
| T7263 |
6729-6731 |
IN |
denotes |
of |
| T7264 |
6732-6735 |
DT |
denotes |
the |
| T7265 |
6736-6744 |
NN |
denotes |
deletion |
| T7266 |
6745-6746 |
-LRB- |
denotes |
( |
| T7267 |
6746-6753 |
IN |
denotes |
between |
| T7268 |
6754-6764 |
NN |
denotes |
rs12634249 |
| T7269 |
6765-6768 |
CC |
denotes |
and |
| T7270 |
6769-6777 |
NN |
denotes |
rs793396 |
| T7271 |
6777-6778 |
-RRB- |
denotes |
) |
| T7272 |
6779-6782 |
CC |
denotes |
and |
| T7273 |
6783-6784 |
SYM |
denotes |
~ |
| T7274 |
6784-6788 |
CD |
denotes |
14.4 |
| T7275 |
6789-6791 |
NN |
denotes |
kb |
| T7276 |
6792-6794 |
IN |
denotes |
on |
| T7277 |
6795-6798 |
DT |
denotes |
the |
| T7278 |
6811-6815 |
NN |
denotes |
side |
| T7279 |
6799-6810 |
JJ |
denotes |
centromeric |
| T7280 |
6816-6818 |
IN |
denotes |
of |
| T7281 |
6819-6822 |
DT |
denotes |
the |
| T7282 |
6823-6831 |
NN |
denotes |
deletion |
| T7283 |
6832-6833 |
-LRB- |
denotes |
( |
| T7284 |
6833-6840 |
IN |
denotes |
between |
| T7285 |
6841-6850 |
NN |
denotes |
rs4073665 |
| T7286 |
6851-6854 |
CC |
denotes |
and |
| T7287 |
6855-6865 |
NN |
denotes |
rs17709863 |
| T7288 |
6865-6866 |
-RRB- |
denotes |
) |
| T7289 |
6866-6867 |
. |
denotes |
. |
| T7290 |
6867-7151 |
sentence |
denotes |
In an attempt to define whether this variation was a benign polymorphism we analyzed genome-wide SNP data at this locus, produced using the same genotyping chip, from 577 individuals of European descent who were either controls or individuals with an unrelated neurological disorder. |
| T7291 |
6868-6870 |
IN |
denotes |
In |
| T7292 |
6944-6952 |
VBD |
denotes |
analyzed |
| T7293 |
6871-6873 |
DT |
denotes |
an |
| T7294 |
6874-6881 |
NN |
denotes |
attempt |
| T7295 |
6882-6884 |
TO |
denotes |
to |
| T7296 |
6885-6891 |
VB |
denotes |
define |
| T7297 |
6892-6899 |
IN |
denotes |
whether |
| T7298 |
6915-6918 |
VBD |
denotes |
was |
| T7299 |
6900-6904 |
DT |
denotes |
this |
| T7300 |
6905-6914 |
NN |
denotes |
variation |
| T7301 |
6919-6920 |
DT |
denotes |
a |
| T7302 |
6928-6940 |
NN |
denotes |
polymorphism |
| T7303 |
6921-6927 |
JJ |
denotes |
benign |
| T7304 |
6941-6943 |
PRP |
denotes |
we |
| T7305 |
6953-6959 |
NN |
denotes |
genome |
| T7306 |
6960-6964 |
JJ |
denotes |
wide |
| T7307 |
6959-6960 |
HYPH |
denotes |
- |
| T7308 |
6969-6973 |
NNS |
denotes |
data |
| T7309 |
6965-6968 |
NN |
denotes |
SNP |
| T7310 |
6974-6976 |
IN |
denotes |
at |
| T7311 |
6977-6981 |
DT |
denotes |
this |
| T7312 |
6982-6987 |
NN |
denotes |
locus |
| T7313 |
6987-6989 |
, |
denotes |
, |
| T7314 |
6989-6997 |
VBN |
denotes |
produced |
| T7315 |
6998-7003 |
VBG |
denotes |
using |
| T7316 |
7004-7007 |
DT |
denotes |
the |
| T7317 |
7024-7028 |
NN |
denotes |
chip |
| T7318 |
7008-7012 |
JJ |
denotes |
same |
| T7319 |
7013-7023 |
NN |
denotes |
genotyping |
| T7320 |
7028-7030 |
, |
denotes |
, |
| T7321 |
7030-7034 |
IN |
denotes |
from |
| T7322 |
7035-7038 |
CD |
denotes |
577 |
| T7323 |
7039-7050 |
NNS |
denotes |
individuals |
| T7324 |
7051-7053 |
IN |
denotes |
of |
| T7325 |
7054-7062 |
JJ |
denotes |
European |
| T7326 |
7063-7070 |
NN |
denotes |
descent |
| T7327 |
7071-7074 |
WP |
denotes |
who |
| T7328 |
7075-7079 |
VBD |
denotes |
were |
| T7329 |
7080-7086 |
CC |
denotes |
either |
| T7330 |
7087-7095 |
NNS |
denotes |
controls |
| T7331 |
7096-7098 |
CC |
denotes |
or |
| T7332 |
7099-7110 |
NNS |
denotes |
individuals |
| T7333 |
7111-7115 |
IN |
denotes |
with |
| T7334 |
7116-7118 |
DT |
denotes |
an |
| T7335 |
7142-7150 |
NN |
denotes |
disorder |
| T7336 |
7119-7128 |
JJ |
denotes |
unrelated |
| T7337 |
7129-7141 |
JJ |
denotes |
neurological |
| T7338 |
7150-7151 |
. |
denotes |
. |
| T7339 |
7151-7419 |
sentence |
denotes |
We failed to find any deletions affecting the coding sequence of either gene, ITPR1 or SUMF1; we did, however, identify a single individual with a possible heterozygous deletion approximately 6 kb in size within intron 40–41 of ITPR1, at least 5 kb away from exon 40. |
| T7340 |
7152-7154 |
PRP |
denotes |
We |
| T7341 |
7155-7161 |
VBD |
denotes |
failed |
| T7342 |
7263-7271 |
VB |
denotes |
identify |
| T7343 |
7162-7164 |
TO |
denotes |
to |
| T7344 |
7165-7169 |
VB |
denotes |
find |
| T7345 |
7170-7173 |
DT |
denotes |
any |
| T7346 |
7174-7183 |
NNS |
denotes |
deletions |
| T7347 |
7184-7193 |
VBG |
denotes |
affecting |
| T7348 |
7194-7197 |
DT |
denotes |
the |
| T7349 |
7205-7213 |
NN |
denotes |
sequence |
| T7350 |
7198-7204 |
NN |
denotes |
coding |
| T7351 |
7214-7216 |
IN |
denotes |
of |
| T7352 |
7217-7223 |
DT |
denotes |
either |
| T7353 |
7224-7228 |
NN |
denotes |
gene |
| T7354 |
7228-7230 |
, |
denotes |
, |
| T7355 |
7230-7235 |
NN |
denotes |
ITPR1 |
| T7356 |
7236-7238 |
CC |
denotes |
or |
| T7357 |
7239-7244 |
NN |
denotes |
SUMF1 |
| T7358 |
7244-7245 |
: |
denotes |
; |
| T7359 |
7246-7248 |
PRP |
denotes |
we |
| T7360 |
7249-7252 |
VBD |
denotes |
did |
| T7361 |
7252-7254 |
, |
denotes |
, |
| T7362 |
7254-7261 |
RB |
denotes |
however |
| T7363 |
7261-7263 |
, |
denotes |
, |
| T7364 |
7272-7273 |
DT |
denotes |
a |
| T7365 |
7281-7291 |
NN |
denotes |
individual |
| T7366 |
7274-7280 |
JJ |
denotes |
single |
| T7367 |
7292-7296 |
IN |
denotes |
with |
| T7368 |
7297-7298 |
DT |
denotes |
a |
| T7369 |
7321-7329 |
NN |
denotes |
deletion |
| T7370 |
7299-7307 |
JJ |
denotes |
possible |
| T7371 |
7308-7320 |
JJ |
denotes |
heterozygous |
| T7372 |
7330-7343 |
RB |
denotes |
approximately |
| T7373 |
7344-7345 |
CD |
denotes |
6 |
| T7374 |
7346-7348 |
NN |
denotes |
kb |
| T7375 |
7349-7351 |
IN |
denotes |
in |
| T7376 |
7352-7356 |
NN |
denotes |
size |
| T7377 |
7357-7363 |
IN |
denotes |
within |
| T7378 |
7364-7370 |
NN |
denotes |
intron |
| T7379 |
7371-7373 |
CD |
denotes |
40 |
| T7380 |
7373-7374 |
SYM |
denotes |
– |
| T7381 |
7374-7376 |
CD |
denotes |
41 |
| T7382 |
7377-7379 |
IN |
denotes |
of |
| T7383 |
7380-7385 |
NN |
denotes |
ITPR1 |
| T7384 |
7385-7387 |
, |
denotes |
, |
| T7385 |
7387-7389 |
RB |
denotes |
at |
| T7386 |
7396-7397 |
CD |
denotes |
5 |
| T7387 |
7390-7395 |
RBS |
denotes |
least |
| T7388 |
7398-7400 |
NN |
denotes |
kb |
| T7389 |
7401-7405 |
RB |
denotes |
away |
| T7390 |
7406-7410 |
IN |
denotes |
from |
| T7391 |
7411-7415 |
NN |
denotes |
exon |
| T7392 |
7416-7418 |
CD |
denotes |
40 |
| T7393 |
7418-7419 |
. |
denotes |
. |
| T7394 |
7419-7519 |
sentence |
denotes |
Given the location of this alteration it is unlikely to effect the expression or splicing of ITPR1. |
| T7395 |
7420-7425 |
VBN |
denotes |
Given |
| T7396 |
7461-7463 |
VBZ |
denotes |
is |
| T7397 |
7426-7429 |
DT |
denotes |
the |
| T7398 |
7430-7438 |
NN |
denotes |
location |
| T7399 |
7439-7441 |
IN |
denotes |
of |
| T7400 |
7442-7446 |
DT |
denotes |
this |
| T7401 |
7447-7457 |
NN |
denotes |
alteration |
| T7402 |
7458-7460 |
PRP |
denotes |
it |
| T7403 |
7464-7472 |
JJ |
denotes |
unlikely |
| T7404 |
7473-7475 |
TO |
denotes |
to |
| T7405 |
7476-7482 |
VB |
denotes |
effect |
| T7406 |
7483-7486 |
DT |
denotes |
the |
| T7407 |
7487-7497 |
NN |
denotes |
expression |
| T7408 |
7498-7500 |
CC |
denotes |
or |
| T7409 |
7501-7509 |
NN |
denotes |
splicing |
| T7410 |
7510-7512 |
IN |
denotes |
of |
| T7411 |
7513-7518 |
NN |
denotes |
ITPR1 |
| T7412 |
7518-7519 |
. |
denotes |
. |
| T7413 |
7519-10120 |
sentence |
denotes |
Figure 2 Metrics Derived from Analysis of DNA from Affected Family Member 7 Using Illumina Infinium HumanHap550 Genotyping Chips
The upper and lower plots are log R ratio and B allele frequency, respectively, at an ~800-kb segment on the p arm of Chromosome 3. Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus. B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot). Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes. Clearly, these plots show a contiguous region ~200 kb long with decreased copy number and apparent homozygosity (bounded by a red box). As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15]. Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1.
Figure 3 Mutation Analysis in the Australian SCA15 Family
(Top) Pedigree of kindred. Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier. w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion.
(Middle) Schematic of primer pairs used to narrow the unknown regions between known deleted sequence and known diploid sequence at the SCA15 locus. Nine primer pairs (T1–T9) were used to amplify across the unknown region telomeric to the known deleted region; 19 primer pairs (C1–C19) were used to amplify across the unknown region centromeric to the known deleted region. All PCRs were carried out in the three affected family members. Analysis of these data narrowed the unknown region, and ultimately we were able to use primer T3f and C11r to amplify across the deletion breakpoint in the three affected family members, producing a fragment of 953 bp in affected individuals.
(Bottom) Gel showing amplification product using primer pair T3f and C11r from affected pedigree members 6, 7, and 19; in pedigree member 23, with unknown disease affection status; in a neurologically normal control (C); and in a no template control (NC). In an attempt to fine-map the breakpoints of the disease-causing deletion we performed a series of experiments designed to refine the unknown intervals at the edges between definite deleted and definite diploid sequences. |
| T7414 |
9899-9901 |
IN |
denotes |
In |
| T7415 |
9976-9985 |
VBD |
denotes |
performed |
| T7416 |
9902-9904 |
DT |
denotes |
an |
| T7417 |
9905-9912 |
NN |
denotes |
attempt |
| T7418 |
9913-9915 |
TO |
denotes |
to |
| T7419 |
9921-9924 |
VB |
denotes |
map |
| T7420 |
9916-9920 |
RB |
denotes |
fine |
| T7421 |
9920-9921 |
HYPH |
denotes |
- |
| T7422 |
9925-9928 |
DT |
denotes |
the |
| T7423 |
9929-9940 |
NNS |
denotes |
breakpoints |
| T7424 |
9941-9943 |
IN |
denotes |
of |
| T7425 |
9944-9947 |
DT |
denotes |
the |
| T7426 |
9964-9972 |
NN |
denotes |
deletion |
| T7427 |
9948-9955 |
NN |
denotes |
disease |
| T7428 |
9956-9963 |
VBG |
denotes |
causing |
| T7429 |
9955-9956 |
HYPH |
denotes |
- |
| T7430 |
9973-9975 |
PRP |
denotes |
we |
| T7431 |
9986-9987 |
DT |
denotes |
a |
| T7432 |
9988-9994 |
NN |
denotes |
series |
| T7433 |
9995-9997 |
IN |
denotes |
of |
| T7434 |
9998-10009 |
NNS |
denotes |
experiments |
| T7435 |
10010-10018 |
VBN |
denotes |
designed |
| T7436 |
10019-10021 |
TO |
denotes |
to |
| T7437 |
10022-10028 |
VB |
denotes |
refine |
| T7438 |
10029-10032 |
DT |
denotes |
the |
| T7439 |
10041-10050 |
NNS |
denotes |
intervals |
| T7440 |
10033-10040 |
JJ |
denotes |
unknown |
| T7441 |
10051-10053 |
IN |
denotes |
at |
| T7442 |
10054-10057 |
DT |
denotes |
the |
| T7443 |
10058-10063 |
NNS |
denotes |
edges |
| T7444 |
10064-10071 |
IN |
denotes |
between |
| T7445 |
10072-10080 |
JJ |
denotes |
definite |
| T7446 |
10081-10088 |
VBN |
denotes |
deleted |
| T7447 |
10110-10119 |
NNS |
denotes |
sequences |
| T7448 |
10089-10092 |
CC |
denotes |
and |
| T7449 |
10093-10101 |
JJ |
denotes |
definite |
| T7450 |
10102-10109 |
JJ |
denotes |
diploid |
| T7451 |
10119-10120 |
. |
denotes |
. |
| T7452 |
10120-10226 |
sentence |
denotes |
These data narrowed the unknown borders to ~4 kb on the telomeric side and ~7 kb on the centromeric side. |
| T7453 |
10121-10126 |
DT |
denotes |
These |
| T7454 |
10127-10131 |
NNS |
denotes |
data |
| T7455 |
10132-10140 |
VBD |
denotes |
narrowed |
| T7456 |
10141-10144 |
DT |
denotes |
the |
| T7457 |
10153-10160 |
NNS |
denotes |
borders |
| T7458 |
10145-10152 |
JJ |
denotes |
unknown |
| T7459 |
10161-10163 |
IN |
denotes |
to |
| T7460 |
10164-10165 |
SYM |
denotes |
~ |
| T7461 |
10165-10166 |
CD |
denotes |
4 |
| T7462 |
10167-10169 |
NN |
denotes |
kb |
| T7463 |
10170-10172 |
IN |
denotes |
on |
| T7464 |
10173-10176 |
DT |
denotes |
the |
| T7465 |
10187-10191 |
NN |
denotes |
side |
| T7466 |
10177-10186 |
JJ |
denotes |
telomeric |
| T7467 |
10192-10195 |
CC |
denotes |
and |
| T7468 |
10196-10197 |
SYM |
denotes |
~ |
| T7469 |
10197-10198 |
CD |
denotes |
7 |
| T7470 |
10199-10201 |
NN |
denotes |
kb |
| T7471 |
10202-10204 |
IN |
denotes |
on |
| T7472 |
10205-10208 |
DT |
denotes |
the |
| T7473 |
10221-10225 |
NN |
denotes |
side |
| T7474 |
10209-10220 |
JJ |
denotes |
centromeric |
| T7475 |
10225-10226 |
. |
denotes |
. |
| T7476 |
10226-10521 |
sentence |
denotes |
We used all possible combinations of forward orientation primers designed within the newly defined telomeric boundary and of reverse orientation primers designed within the newly defined centromeric boundary in PCR assays in an attempt to amplify across the deletion in affected family members. |
| T7477 |
10227-10229 |
PRP |
denotes |
We |
| T7478 |
10230-10234 |
VBD |
denotes |
used |
| T7479 |
10235-10238 |
DT |
denotes |
all |
| T7480 |
10248-10260 |
NNS |
denotes |
combinations |
| T7481 |
10239-10247 |
JJ |
denotes |
possible |
| T7482 |
10261-10263 |
IN |
denotes |
of |
| T7483 |
10264-10271 |
JJ |
denotes |
forward |
| T7484 |
10272-10283 |
NN |
denotes |
orientation |
| T7485 |
10284-10291 |
NNS |
denotes |
primers |
| T7486 |
10292-10300 |
VBN |
denotes |
designed |
| T7487 |
10301-10307 |
IN |
denotes |
within |
| T7488 |
10308-10311 |
DT |
denotes |
the |
| T7489 |
10336-10344 |
NN |
denotes |
boundary |
| T7490 |
10312-10317 |
RB |
denotes |
newly |
| T7491 |
10318-10325 |
VBN |
denotes |
defined |
| T7492 |
10326-10335 |
JJ |
denotes |
telomeric |
| T7493 |
10345-10348 |
CC |
denotes |
and |
| T7494 |
10349-10351 |
IN |
denotes |
of |
| T7495 |
10352-10359 |
JJ |
denotes |
reverse |
| T7496 |
10360-10371 |
NN |
denotes |
orientation |
| T7497 |
10372-10379 |
NNS |
denotes |
primers |
| T7498 |
10380-10388 |
VBN |
denotes |
designed |
| T7499 |
10389-10395 |
IN |
denotes |
within |
| T7500 |
10396-10399 |
DT |
denotes |
the |
| T7501 |
10426-10434 |
NN |
denotes |
boundary |
| T7502 |
10400-10405 |
RB |
denotes |
newly |
| T7503 |
10406-10413 |
VBN |
denotes |
defined |
| T7504 |
10414-10425 |
JJ |
denotes |
centromeric |
| T7505 |
10435-10437 |
IN |
denotes |
in |
| T7506 |
10438-10441 |
NN |
denotes |
PCR |
| T7507 |
10442-10448 |
NNS |
denotes |
assays |
| T7508 |
10449-10451 |
IN |
denotes |
in |
| T7509 |
10452-10454 |
DT |
denotes |
an |
| T7510 |
10455-10462 |
NN |
denotes |
attempt |
| T7511 |
10463-10465 |
TO |
denotes |
to |
| T7512 |
10466-10473 |
VB |
denotes |
amplify |
| T7513 |
10474-10480 |
IN |
denotes |
across |
| T7514 |
10481-10484 |
DT |
denotes |
the |
| T7515 |
10485-10493 |
NN |
denotes |
deletion |
| T7516 |
10494-10496 |
IN |
denotes |
in |
| T7517 |
10497-10505 |
VBN |
denotes |
affected |
| T7518 |
10513-10520 |
NNS |
denotes |
members |
| T7519 |
10506-10512 |
NN |
denotes |
family |
| T7520 |
10520-10521 |
. |
denotes |
. |
| T7521 |
10521-10713 |
sentence |
denotes |
Using PCR primers T3F and C11R, which should be more than 200 kb apart, we were able to amplify a fragment 953 bp in size using DNA from each of the three affected family members as template. |
| T7522 |
10522-10527 |
VBG |
denotes |
Using |
| T7523 |
10597-10601 |
VBD |
denotes |
were |
| T7524 |
10528-10531 |
NN |
denotes |
PCR |
| T7525 |
10532-10539 |
NNS |
denotes |
primers |
| T7526 |
10540-10543 |
NN |
denotes |
T3F |
| T7527 |
10544-10547 |
CC |
denotes |
and |
| T7528 |
10548-10552 |
NN |
denotes |
C11R |
| T7529 |
10552-10554 |
, |
denotes |
, |
| T7530 |
10554-10559 |
WDT |
denotes |
which |
| T7531 |
10567-10569 |
VB |
denotes |
be |
| T7532 |
10560-10566 |
MD |
denotes |
should |
| T7533 |
10570-10574 |
JJR |
denotes |
more |
| T7534 |
10580-10583 |
CD |
denotes |
200 |
| T7535 |
10575-10579 |
IN |
denotes |
than |
| T7536 |
10584-10586 |
NN |
denotes |
kb |
| T7537 |
10587-10592 |
RB |
denotes |
apart |
| T7538 |
10592-10594 |
, |
denotes |
, |
| T7539 |
10594-10596 |
PRP |
denotes |
we |
| T7540 |
10602-10606 |
JJ |
denotes |
able |
| T7541 |
10607-10609 |
TO |
denotes |
to |
| T7542 |
10610-10617 |
VB |
denotes |
amplify |
| T7543 |
10618-10619 |
DT |
denotes |
a |
| T7544 |
10620-10628 |
NN |
denotes |
fragment |
| T7545 |
10629-10632 |
CD |
denotes |
953 |
| T7546 |
10633-10635 |
NN |
denotes |
bp |
| T7547 |
10636-10638 |
IN |
denotes |
in |
| T7548 |
10639-10643 |
NN |
denotes |
size |
| T7549 |
10644-10649 |
VBG |
denotes |
using |
| T7550 |
10650-10653 |
NN |
denotes |
DNA |
| T7551 |
10654-10658 |
IN |
denotes |
from |
| T7552 |
10659-10663 |
DT |
denotes |
each |
| T7553 |
10664-10666 |
IN |
denotes |
of |
| T7554 |
10667-10670 |
DT |
denotes |
the |
| T7555 |
10693-10700 |
NNS |
denotes |
members |
| T7556 |
10671-10676 |
CD |
denotes |
three |
| T7557 |
10677-10685 |
VBN |
denotes |
affected |
| T7558 |
10686-10692 |
NN |
denotes |
family |
| T7559 |
10701-10703 |
IN |
denotes |
as |
| T7560 |
10704-10712 |
NN |
denotes |
template |
| T7561 |
10712-10713 |
. |
denotes |
. |
| T7562 |
10713-10884 |
sentence |
denotes |
Sequencing of this fragment revealed a deletion of 201,509 bp (Figure S3), removing the first three of the nine exons of SUMF1 and the first ten of the 58 exons of ITPR1. |
| T7563 |
10714-10724 |
NN |
denotes |
Sequencing |
| T7564 |
10742-10750 |
VBD |
denotes |
revealed |
| T7565 |
10725-10727 |
IN |
denotes |
of |
| T7566 |
10728-10732 |
DT |
denotes |
this |
| T7567 |
10733-10741 |
NN |
denotes |
fragment |
| T7568 |
10751-10752 |
DT |
denotes |
a |
| T7569 |
10753-10761 |
NN |
denotes |
deletion |
| T7570 |
10762-10764 |
IN |
denotes |
of |
| T7571 |
10765-10772 |
CD |
denotes |
201,509 |
| T7572 |
10773-10775 |
NN |
denotes |
bp |
| T7573 |
10776-10777 |
-LRB- |
denotes |
( |
| T7574 |
10784-10786 |
NN |
denotes |
S3 |
| T7575 |
10777-10783 |
NN |
denotes |
Figure |
| T7576 |
10786-10787 |
-RRB- |
denotes |
) |
| T7577 |
10787-10789 |
, |
denotes |
, |
| T7578 |
10789-10797 |
VBG |
denotes |
removing |
| T7579 |
10798-10801 |
DT |
denotes |
the |
| T7580 |
10808-10813 |
CD |
denotes |
three |
| T7581 |
10802-10807 |
JJ |
denotes |
first |
| T7582 |
10814-10816 |
IN |
denotes |
of |
| T7583 |
10817-10820 |
DT |
denotes |
the |
| T7584 |
10826-10831 |
NNS |
denotes |
exons |
| T7585 |
10821-10825 |
CD |
denotes |
nine |
| T7586 |
10832-10834 |
IN |
denotes |
of |
| T7587 |
10835-10840 |
NN |
denotes |
SUMF1 |
| T7588 |
10841-10844 |
CC |
denotes |
and |
| T7589 |
10845-10848 |
DT |
denotes |
the |
| T7590 |
10855-10858 |
CD |
denotes |
ten |
| T7591 |
10849-10854 |
JJ |
denotes |
first |
| T7592 |
10859-10861 |
IN |
denotes |
of |
| T7593 |
10862-10865 |
DT |
denotes |
the |
| T7594 |
10869-10874 |
NNS |
denotes |
exons |
| T7595 |
10866-10868 |
CD |
denotes |
58 |
| T7596 |
10875-10877 |
IN |
denotes |
of |
| T7597 |
10878-10883 |
NN |
denotes |
ITPR1 |
| T7598 |
10883-10884 |
. |
denotes |
. |
| T7599 |
10884-11033 |
sentence |
denotes |
We were unable to amplify the deletion-specific fragment in the family member of unknown affection status, or in 275 neurologically normal controls. |
| T7600 |
10885-10887 |
PRP |
denotes |
We |
| T7601 |
10888-10892 |
VBD |
denotes |
were |
| T7602 |
10893-10899 |
JJ |
denotes |
unable |
| T7603 |
10900-10902 |
TO |
denotes |
to |
| T7604 |
10903-10910 |
VB |
denotes |
amplify |
| T7605 |
10911-10914 |
DT |
denotes |
the |
| T7606 |
10933-10941 |
NN |
denotes |
fragment |
| T7607 |
10915-10923 |
NN |
denotes |
deletion |
| T7608 |
10924-10932 |
JJ |
denotes |
specific |
| T7609 |
10923-10924 |
HYPH |
denotes |
- |
| T7610 |
10942-10944 |
IN |
denotes |
in |
| T7611 |
10945-10948 |
DT |
denotes |
the |
| T7612 |
10956-10962 |
NN |
denotes |
member |
| T7613 |
10949-10955 |
NN |
denotes |
family |
| T7614 |
10963-10965 |
IN |
denotes |
of |
| T7615 |
10966-10973 |
JJ |
denotes |
unknown |
| T7616 |
10984-10990 |
NN |
denotes |
status |
| T7617 |
10974-10983 |
NN |
denotes |
affection |
| T7618 |
10990-10992 |
, |
denotes |
, |
| T7619 |
10992-10994 |
CC |
denotes |
or |
| T7620 |
10995-10997 |
IN |
denotes |
in |
| T7621 |
10998-11001 |
CD |
denotes |
275 |
| T7622 |
11024-11032 |
NNS |
denotes |
controls |
| T7623 |
11002-11016 |
RB |
denotes |
neurologically |
| T7624 |
11017-11023 |
JJ |
denotes |
normal |
| T7625 |
11032-11033 |
. |
denotes |
. |
| T7626 |
11033-11285 |
sentence |
denotes |
To further establish genetic deletion at ITPR1 as the cause of SCA15 we analyzed two additional families with an inherited cerebellar ataxia similar to that described in the AUS1 family, ascertained through neurology clinics in London, United Kingdom. |
| T7627 |
11034-11036 |
TO |
denotes |
To |
| T7628 |
11045-11054 |
VB |
denotes |
establish |
| T7629 |
11037-11044 |
RB |
denotes |
further |
| T7630 |
11106-11114 |
VBD |
denotes |
analyzed |
| T7631 |
11055-11062 |
JJ |
denotes |
genetic |
| T7632 |
11063-11071 |
NN |
denotes |
deletion |
| T7633 |
11072-11074 |
IN |
denotes |
at |
| T7634 |
11075-11080 |
NN |
denotes |
ITPR1 |
| T7635 |
11081-11083 |
IN |
denotes |
as |
| T7636 |
11084-11087 |
DT |
denotes |
the |
| T7637 |
11088-11093 |
NN |
denotes |
cause |
| T7638 |
11094-11096 |
IN |
denotes |
of |
| T7639 |
11097-11102 |
NN |
denotes |
SCA15 |
| T7640 |
11103-11105 |
PRP |
denotes |
we |
| T7641 |
11115-11118 |
CD |
denotes |
two |
| T7642 |
11130-11138 |
NNS |
denotes |
families |
| T7643 |
11119-11129 |
JJ |
denotes |
additional |
| T7644 |
11139-11143 |
IN |
denotes |
with |
| T7645 |
11144-11146 |
DT |
denotes |
an |
| T7646 |
11168-11174 |
NN |
denotes |
ataxia |
| T7647 |
11147-11156 |
VBN |
denotes |
inherited |
| T7648 |
11157-11167 |
JJ |
denotes |
cerebellar |
| T7649 |
11175-11182 |
JJ |
denotes |
similar |
| T7650 |
11183-11185 |
IN |
denotes |
to |
| T7651 |
11186-11190 |
DT |
denotes |
that |
| T7652 |
11191-11200 |
VBN |
denotes |
described |
| T7653 |
11201-11203 |
IN |
denotes |
in |
| T7654 |
11204-11207 |
DT |
denotes |
the |
| T7655 |
11213-11219 |
NN |
denotes |
family |
| T7656 |
11208-11212 |
NN |
denotes |
AUS1 |
| T7657 |
11219-11221 |
, |
denotes |
, |
| T7658 |
11221-11232 |
VBN |
denotes |
ascertained |
| T7659 |
11233-11240 |
IN |
denotes |
through |
| T7660 |
11241-11250 |
NN |
denotes |
neurology |
| T7661 |
11251-11258 |
NNS |
denotes |
clinics |
| T7662 |
11259-11261 |
IN |
denotes |
in |
| T7663 |
11262-11268 |
NNP |
denotes |
London |
| T7664 |
11268-11270 |
, |
denotes |
, |
| T7665 |
11270-11276 |
NNP |
denotes |
United |
| T7666 |
11277-11284 |
NNP |
denotes |
Kingdom |
| T7667 |
11284-11285 |
. |
denotes |
. |
| T7668 |
11285-11438 |
sentence |
denotes |
DNA extracted from probands from these two families (family H33 and family H27) were also analyzed using Illumina Infinium HumanHap550 genotyping chips. |
| T7669 |
11286-11289 |
NN |
denotes |
DNA |
| T7670 |
11376-11384 |
VBN |
denotes |
analyzed |
| T7671 |
11290-11299 |
VBN |
denotes |
extracted |
| T7672 |
11300-11304 |
IN |
denotes |
from |
| T7673 |
11305-11313 |
NNS |
denotes |
probands |
| T7674 |
11314-11318 |
IN |
denotes |
from |
| T7675 |
11319-11324 |
DT |
denotes |
these |
| T7676 |
11329-11337 |
NNS |
denotes |
families |
| T7677 |
11325-11328 |
CD |
denotes |
two |
| T7678 |
11338-11339 |
-LRB- |
denotes |
( |
| T7679 |
11346-11349 |
NN |
denotes |
H33 |
| T7680 |
11339-11345 |
NN |
denotes |
family |
| T7681 |
11350-11353 |
CC |
denotes |
and |
| T7682 |
11354-11360 |
NN |
denotes |
family |
| T7683 |
11361-11364 |
NN |
denotes |
H27 |
| T7684 |
11364-11365 |
-RRB- |
denotes |
) |
| T7685 |
11366-11370 |
VBD |
denotes |
were |
| T7686 |
11371-11375 |
RB |
denotes |
also |
| T7687 |
11385-11390 |
VBG |
denotes |
using |
| T7688 |
11391-11399 |
NNP |
denotes |
Illumina |
| T7689 |
11409-11420 |
NNP |
denotes |
HumanHap550 |
| T7690 |
11400-11408 |
NNP |
denotes |
Infinium |
| T7691 |
11432-11437 |
NNS |
denotes |
chips |
| T7692 |
11421-11431 |
NN |
denotes |
genotyping |
| T7693 |
11437-11438 |
. |
denotes |
. |
| T7694 |
11438-11550 |
sentence |
denotes |
These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1. |
| T7695 |
11439-11444 |
DT |
denotes |
These |
| T7696 |
11445-11456 |
NNS |
denotes |
experiments |
| T7697 |
11457-11463 |
VBD |
denotes |
showed |
| T7698 |
11464-11472 |
NN |
denotes |
deletion |
| T7699 |
11473-11475 |
IN |
denotes |
at |
| T7700 |
11476-11479 |
DT |
denotes |
the |
| T7701 |
11486-11491 |
NN |
denotes |
locus |
| T7702 |
11480-11485 |
NN |
denotes |
SCA15 |
| T7703 |
11492-11494 |
IN |
denotes |
in |
| T7704 |
11495-11498 |
DT |
denotes |
all |
| T7705 |
11508-11515 |
NNS |
denotes |
members |
| T7706 |
11499-11507 |
VBN |
denotes |
affected |
| T7707 |
11516-11523 |
VBN |
denotes |
assayed |
| T7708 |
11523-11525 |
, |
denotes |
, |
| T7709 |
11525-11529 |
IN |
denotes |
from |
| T7710 |
11530-11535 |
NN |
denotes |
SUMF1 |
| T7711 |
11536-11543 |
IN |
denotes |
through |
| T7712 |
11544-11549 |
NN |
denotes |
ITPR1 |
| T7713 |
11549-11550 |
. |
denotes |
. |
| T7714 |
11550-11625 |
sentence |
denotes |
These mutations segregated with disease in these two families (Figure S3). |
| T7715 |
11551-11556 |
DT |
denotes |
These |
| T7716 |
11557-11566 |
NNS |
denotes |
mutations |
| T7717 |
11567-11577 |
VBD |
denotes |
segregated |
| T7718 |
11578-11582 |
IN |
denotes |
with |
| T7719 |
11583-11590 |
NN |
denotes |
disease |
| T7720 |
11591-11593 |
IN |
denotes |
in |
| T7721 |
11594-11599 |
DT |
denotes |
these |
| T7722 |
11604-11612 |
NNS |
denotes |
families |
| T7723 |
11600-11603 |
CD |
denotes |
two |
| T7724 |
11613-11614 |
-LRB- |
denotes |
( |
| T7725 |
11621-11623 |
NN |
denotes |
S3 |
| T7726 |
11614-11620 |
NN |
denotes |
Figure |
| T7727 |
11623-11624 |
-RRB- |
denotes |
) |
| T7728 |
11624-11625 |
. |
denotes |
. |
| T7729 |
11625-11747 |
sentence |
denotes |
A strategy similar to the one outlined above enabled us to sequence over the breakpoint in family H27 but not family H33. |
| T7730 |
11626-11627 |
DT |
denotes |
A |
| T7731 |
11628-11636 |
NN |
denotes |
strategy |
| T7732 |
11671-11678 |
VBD |
denotes |
enabled |
| T7733 |
11637-11644 |
JJ |
denotes |
similar |
| T7734 |
11645-11647 |
IN |
denotes |
to |
| T7735 |
11648-11651 |
DT |
denotes |
the |
| T7736 |
11652-11655 |
CD |
denotes |
one |
| T7737 |
11656-11664 |
VBN |
denotes |
outlined |
| T7738 |
11665-11670 |
RB |
denotes |
above |
| T7739 |
11679-11681 |
PRP |
denotes |
us |
| T7740 |
11682-11684 |
TO |
denotes |
to |
| T7741 |
11685-11693 |
VB |
denotes |
sequence |
| T7742 |
11694-11698 |
IN |
denotes |
over |
| T7743 |
11699-11702 |
DT |
denotes |
the |
| T7744 |
11703-11713 |
NN |
denotes |
breakpoint |
| T7745 |
11714-11716 |
IN |
denotes |
in |
| T7746 |
11717-11723 |
NN |
denotes |
family |
| T7747 |
11724-11727 |
NN |
denotes |
H27 |
| T7748 |
11728-11731 |
CC |
denotes |
but |
| T7749 |
11732-11735 |
RB |
denotes |
not |
| T7750 |
11736-11742 |
NN |
denotes |
family |
| T7751 |
11743-11746 |
NN |
denotes |
H33 |
| T7752 |
11746-11747 |
. |
denotes |
. |
| T7753 |
11747-11969 |
sentence |
denotes |
In the former, the deletion spans 344,408 bp, removing exons 1–3 of SUMF1 and 1–44 of ITPR1; in the latter, we estimate that the deletion is 310 kb in length and that it removes exons 1–3 of SUMF1 and exons 1–40 of ITPR1. |
| T7754 |
11748-11750 |
IN |
denotes |
In |
| T7755 |
11776-11781 |
VBZ |
denotes |
spans |
| T7756 |
11751-11754 |
DT |
denotes |
the |
| T7757 |
11755-11761 |
JJ |
denotes |
former |
| T7758 |
11761-11763 |
, |
denotes |
, |
| T7759 |
11763-11766 |
DT |
denotes |
the |
| T7760 |
11767-11775 |
NN |
denotes |
deletion |
| T7761 |
11859-11867 |
VBP |
denotes |
estimate |
| T7762 |
11782-11789 |
CD |
denotes |
344,408 |
| T7763 |
11790-11792 |
NN |
denotes |
bp |
| T7764 |
11792-11794 |
, |
denotes |
, |
| T7765 |
11794-11802 |
VBG |
denotes |
removing |
| T7766 |
11803-11808 |
NNS |
denotes |
exons |
| T7767 |
11809-11810 |
CD |
denotes |
1 |
| T7768 |
11810-11811 |
SYM |
denotes |
– |
| T7769 |
11811-11812 |
CD |
denotes |
3 |
| T7770 |
11813-11815 |
IN |
denotes |
of |
| T7771 |
11816-11821 |
NN |
denotes |
SUMF1 |
| T7772 |
11822-11825 |
CC |
denotes |
and |
| T7773 |
11826-11827 |
CD |
denotes |
1 |
| T7774 |
11827-11828 |
SYM |
denotes |
– |
| T7775 |
11828-11830 |
CD |
denotes |
44 |
| T7776 |
11831-11833 |
IN |
denotes |
of |
| T7777 |
11834-11839 |
NN |
denotes |
ITPR1 |
| T7778 |
11839-11840 |
: |
denotes |
; |
| T7779 |
11841-11843 |
IN |
denotes |
in |
| T7780 |
11844-11847 |
DT |
denotes |
the |
| T7781 |
11848-11854 |
JJ |
denotes |
latter |
| T7782 |
11854-11856 |
, |
denotes |
, |
| T7783 |
11856-11858 |
PRP |
denotes |
we |
| T7784 |
11868-11872 |
IN |
denotes |
that |
| T7785 |
11886-11888 |
VBZ |
denotes |
is |
| T7786 |
11873-11876 |
DT |
denotes |
the |
| T7787 |
11877-11885 |
NN |
denotes |
deletion |
| T7788 |
11889-11892 |
CD |
denotes |
310 |
| T7789 |
11893-11895 |
NN |
denotes |
kb |
| T7790 |
11896-11898 |
IN |
denotes |
in |
| T7791 |
11899-11905 |
NN |
denotes |
length |
| T7792 |
11906-11909 |
CC |
denotes |
and |
| T7793 |
11910-11914 |
IN |
denotes |
that |
| T7794 |
11918-11925 |
VBZ |
denotes |
removes |
| T7795 |
11915-11917 |
PRP |
denotes |
it |
| T7796 |
11926-11931 |
NNS |
denotes |
exons |
| T7797 |
11932-11933 |
CD |
denotes |
1 |
| T7798 |
11933-11934 |
SYM |
denotes |
– |
| T7799 |
11934-11935 |
CD |
denotes |
3 |
| T7800 |
11936-11938 |
IN |
denotes |
of |
| T7801 |
11939-11944 |
NN |
denotes |
SUMF1 |
| T7802 |
11945-11948 |
CC |
denotes |
and |
| T7803 |
11949-11954 |
NNS |
denotes |
exons |
| T7804 |
11955-11956 |
CD |
denotes |
1 |
| T7805 |
11956-11957 |
SYM |
denotes |
– |
| T7806 |
11957-11959 |
CD |
denotes |
40 |
| T7807 |
11960-11962 |
IN |
denotes |
of |
| T7808 |
11963-11968 |
NN |
denotes |
ITPR1 |
| T7809 |
11968-11969 |
. |
denotes |
. |
| T7810 |
11969-12235 |
sentence |
denotes |
The site of mutation is of interest, particularly the fact that in each of the three families the telomeric end of the deletion is anchored between exons 3 and 4 of SUMF1; sequence searches failed to identify any repeat sequences that might explain this phenomenon. |
| T7811 |
11970-11973 |
DT |
denotes |
The |
| T7812 |
11974-11978 |
NN |
denotes |
site |
| T7813 |
11991-11993 |
VBZ |
denotes |
is |
| T7814 |
11979-11981 |
IN |
denotes |
of |
| T7815 |
11982-11990 |
NN |
denotes |
mutation |
| T7816 |
12160-12166 |
VBD |
denotes |
failed |
| T7817 |
11994-11996 |
IN |
denotes |
of |
| T7818 |
11997-12005 |
NN |
denotes |
interest |
| T7819 |
12005-12007 |
, |
denotes |
, |
| T7820 |
12007-12019 |
RB |
denotes |
particularly |
| T7821 |
12024-12028 |
NN |
denotes |
fact |
| T7822 |
12020-12023 |
DT |
denotes |
the |
| T7823 |
12029-12033 |
IN |
denotes |
that |
| T7824 |
12101-12109 |
VBN |
denotes |
anchored |
| T7825 |
12034-12036 |
IN |
denotes |
in |
| T7826 |
12037-12041 |
DT |
denotes |
each |
| T7827 |
12042-12044 |
IN |
denotes |
of |
| T7828 |
12045-12048 |
DT |
denotes |
the |
| T7829 |
12055-12063 |
NNS |
denotes |
families |
| T7830 |
12049-12054 |
CD |
denotes |
three |
| T7831 |
12064-12067 |
DT |
denotes |
the |
| T7832 |
12078-12081 |
NN |
denotes |
end |
| T7833 |
12068-12077 |
JJ |
denotes |
telomeric |
| T7834 |
12082-12084 |
IN |
denotes |
of |
| T7835 |
12085-12088 |
DT |
denotes |
the |
| T7836 |
12089-12097 |
NN |
denotes |
deletion |
| T7837 |
12098-12100 |
VBZ |
denotes |
is |
| T7838 |
12110-12117 |
IN |
denotes |
between |
| T7839 |
12118-12123 |
NNS |
denotes |
exons |
| T7840 |
12124-12125 |
CD |
denotes |
3 |
| T7841 |
12126-12129 |
CC |
denotes |
and |
| T7842 |
12130-12131 |
CD |
denotes |
4 |
| T7843 |
12132-12134 |
IN |
denotes |
of |
| T7844 |
12135-12140 |
NN |
denotes |
SUMF1 |
| T7845 |
12140-12141 |
: |
denotes |
; |
| T7846 |
12142-12150 |
NN |
denotes |
sequence |
| T7847 |
12151-12159 |
NNS |
denotes |
searches |
| T7848 |
12167-12169 |
TO |
denotes |
to |
| T7849 |
12170-12178 |
VB |
denotes |
identify |
| T7850 |
12179-12182 |
DT |
denotes |
any |
| T7851 |
12190-12199 |
NNS |
denotes |
sequences |
| T7852 |
12183-12189 |
NN |
denotes |
repeat |
| T7853 |
12200-12204 |
WDT |
denotes |
that |
| T7854 |
12211-12218 |
VB |
denotes |
explain |
| T7855 |
12205-12210 |
MD |
denotes |
might |
| T7856 |
12219-12223 |
DT |
denotes |
this |
| T7857 |
12224-12234 |
NN |
denotes |
phenomenon |
| T7858 |
12234-12235 |
. |
denotes |
. |
| T7859 |
12235-12586 |
sentence |
denotes |
With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the two British families as well as the original Australian family. |
| T7860 |
12236-12240 |
IN |
denotes |
With |
| T7861 |
12384-12392 |
VB |
denotes |
conclude |
| T7862 |
12241-12246 |
CD |
denotes |
three |
| T7863 |
12265-12273 |
NNS |
denotes |
families |
| T7864 |
12247-12257 |
JJ |
denotes |
cerebellar |
| T7865 |
12258-12264 |
NN |
denotes |
ataxia |
| T7866 |
12274-12285 |
VBG |
denotes |
segregating |
| T7867 |
12286-12287 |
DT |
denotes |
a |
| T7868 |
12300-12308 |
NN |
denotes |
deletion |
| T7869 |
12288-12293 |
NN |
denotes |
SUMF1 |
| T7870 |
12294-12299 |
NN |
denotes |
ITPR1 |
| T7871 |
12293-12294 |
HYPH |
denotes |
– |
| T7872 |
12308-12310 |
, |
denotes |
, |
| T7873 |
12310-12313 |
CC |
denotes |
and |
| T7874 |
12314-12318 |
DT |
denotes |
this |
| T7875 |
12319-12327 |
NN |
denotes |
deletion |
| T7876 |
12328-12331 |
RB |
denotes |
not |
| T7877 |
12332-12340 |
VBN |
denotes |
observed |
| T7878 |
12341-12343 |
IN |
denotes |
in |
| T7879 |
12344-12345 |
DT |
denotes |
a |
| T7880 |
12354-12364 |
NN |
denotes |
population |
| T7881 |
12346-12353 |
NN |
denotes |
control |
| T7882 |
12364-12366 |
, |
denotes |
, |
| T7883 |
12366-12368 |
PRP |
denotes |
we |
| T7884 |
12369-12372 |
MD |
denotes |
may |
| T7885 |
12373-12383 |
RB |
denotes |
reasonably |
| T7886 |
12393-12397 |
IN |
denotes |
that |
| T7887 |
12414-12416 |
VBZ |
denotes |
is |
| T7888 |
12398-12401 |
DT |
denotes |
the |
| T7889 |
12402-12413 |
NN |
denotes |
association |
| T7890 |
12417-12423 |
JJ |
denotes |
causal |
| T7891 |
12423-12425 |
, |
denotes |
, |
| T7892 |
12425-12428 |
CC |
denotes |
and |
| T7893 |
12429-12433 |
IN |
denotes |
that |
| T7894 |
12447-12449 |
VBZ |
denotes |
is |
| T7895 |
12434-12437 |
DT |
denotes |
the |
| T7896 |
12438-12446 |
NN |
denotes |
deletion |
| T7897 |
12450-12456 |
RB |
denotes |
indeed |
| T7898 |
12457-12460 |
DT |
denotes |
the |
| T7899 |
12469-12474 |
NN |
denotes |
basis |
| T7900 |
12461-12468 |
JJ |
denotes |
genetic |
| T7901 |
12475-12477 |
IN |
denotes |
of |
| T7902 |
12478-12481 |
DT |
denotes |
the |
| T7903 |
12482-12489 |
NN |
denotes |
disease |
| T7904 |
12489-12491 |
, |
denotes |
, |
| T7905 |
12491-12495 |
IN |
denotes |
with |
| T7906 |
12506-12515 |
NN |
denotes |
diagnosis |
| T7907 |
12496-12501 |
NN |
denotes |
SCA15 |
| T7908 |
12502-12505 |
DT |
denotes |
the |
| T7909 |
12516-12518 |
IN |
denotes |
in |
| T7910 |
12519-12522 |
DT |
denotes |
the |
| T7911 |
12535-12543 |
NNS |
denotes |
families |
| T7912 |
12523-12526 |
CD |
denotes |
two |
| T7913 |
12527-12534 |
JJ |
denotes |
British |
| T7914 |
12544-12546 |
RB |
denotes |
as |
| T7915 |
12552-12554 |
IN |
denotes |
as |
| T7916 |
12547-12551 |
RB |
denotes |
well |
| T7917 |
12555-12558 |
DT |
denotes |
the |
| T7918 |
12579-12585 |
NN |
denotes |
family |
| T7919 |
12559-12567 |
JJ |
denotes |
original |
| T7920 |
12568-12578 |
JJ |
denotes |
Australian |
| T7921 |
12585-12586 |
. |
denotes |
. |
| T7922 |
12586-12731 |
sentence |
denotes |
It is improbable that heterozygosity for the deletion of SUMF1, encoding sulfatase modifying factor 1, of itself causes or contributes to SCA15. |
| T7923 |
12587-12589 |
PRP |
denotes |
It |
| T7924 |
12590-12592 |
VBZ |
denotes |
is |
| T7925 |
12593-12603 |
JJ |
denotes |
improbable |
| T7926 |
12604-12608 |
IN |
denotes |
that |
| T7927 |
12700-12706 |
VBZ |
denotes |
causes |
| T7928 |
12609-12623 |
NN |
denotes |
heterozygosity |
| T7929 |
12624-12627 |
IN |
denotes |
for |
| T7930 |
12628-12631 |
DT |
denotes |
the |
| T7931 |
12632-12640 |
NN |
denotes |
deletion |
| T7932 |
12641-12643 |
IN |
denotes |
of |
| T7933 |
12644-12649 |
NN |
denotes |
SUMF1 |
| T7934 |
12649-12651 |
, |
denotes |
, |
| T7935 |
12651-12659 |
VBG |
denotes |
encoding |
| T7936 |
12660-12669 |
NN |
denotes |
sulfatase |
| T7937 |
12680-12686 |
NN |
denotes |
factor |
| T7938 |
12670-12679 |
VBG |
denotes |
modifying |
| T7939 |
12687-12688 |
CD |
denotes |
1 |
| T7940 |
12688-12690 |
, |
denotes |
, |
| T7941 |
12690-12692 |
IN |
denotes |
of |
| T7942 |
12693-12699 |
PRP |
denotes |
itself |
| T7943 |
12707-12709 |
CC |
denotes |
or |
| T7944 |
12710-12721 |
VBZ |
denotes |
contributes |
| T7945 |
12722-12724 |
IN |
denotes |
to |
| T7946 |
12725-12730 |
NN |
denotes |
SCA15 |
| T7947 |
12730-12731 |
. |
denotes |
. |
| T7948 |
12731-12921 |
sentence |
denotes |
Homozygous mutation of SUMF1 results in autosomal recessive multiple sulfatase deficiency, a metabolic disorder characterized by hepatosplenomegaly, deafness, and developmental delay [6,7]. |
| T7949 |
12732-12742 |
JJ |
denotes |
Homozygous |
| T7950 |
12743-12751 |
NN |
denotes |
mutation |
| T7951 |
12761-12768 |
VBZ |
denotes |
results |
| T7952 |
12752-12754 |
IN |
denotes |
of |
| T7953 |
12755-12760 |
NN |
denotes |
SUMF1 |
| T7954 |
12769-12771 |
IN |
denotes |
in |
| T7955 |
12772-12781 |
JJ |
denotes |
autosomal |
| T7956 |
12811-12821 |
NN |
denotes |
deficiency |
| T7957 |
12782-12791 |
JJ |
denotes |
recessive |
| T7958 |
12792-12800 |
JJ |
denotes |
multiple |
| T7959 |
12801-12810 |
NN |
denotes |
sulfatase |
| T7960 |
12821-12823 |
, |
denotes |
, |
| T7961 |
12823-12824 |
DT |
denotes |
a |
| T7962 |
12835-12843 |
NN |
denotes |
disorder |
| T7963 |
12825-12834 |
JJ |
denotes |
metabolic |
| T7964 |
12844-12857 |
VBN |
denotes |
characterized |
| T7965 |
12858-12860 |
IN |
denotes |
by |
| T7966 |
12861-12879 |
NN |
denotes |
hepatosplenomegaly |
| T7967 |
12879-12881 |
, |
denotes |
, |
| T7968 |
12881-12889 |
NN |
denotes |
deafness |
| T7969 |
12889-12891 |
, |
denotes |
, |
| T7970 |
12891-12894 |
CC |
denotes |
and |
| T7971 |
12895-12908 |
JJ |
denotes |
developmental |
| T7972 |
12909-12914 |
NN |
denotes |
delay |
| T7973 |
12915-12916 |
-LRB- |
denotes |
[ |
| T7974 |
12918-12919 |
CD |
denotes |
7 |
| T7975 |
12916-12917 |
CD |
denotes |
6 |
| T7976 |
12917-12918 |
, |
denotes |
, |
| T7977 |
12919-12920 |
-RRB- |
denotes |
] |
| T7978 |
12920-12921 |
. |
denotes |
. |
| T7979 |
12921-13041 |
sentence |
denotes |
No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency. |
| T7980 |
12922-12924 |
DT |
denotes |
No |
| T7981 |
12925-12938 |
NN |
denotes |
co-occurrence |
| T7982 |
12958-12967 |
VBN |
denotes |
described |
| T7983 |
12939-12941 |
IN |
denotes |
of |
| T7984 |
12942-12948 |
NN |
denotes |
ataxia |
| T7985 |
12949-12952 |
VBZ |
denotes |
has |
| T7986 |
12953-12957 |
VBN |
denotes |
been |
| T7987 |
12968-12970 |
IN |
denotes |
in |
| T7988 |
12971-12972 |
-LRB- |
denotes |
( |
| T7989 |
12986-12993 |
NNS |
denotes |
parents |
| T7990 |
12972-12984 |
JJ |
denotes |
heterozygous |
| T7991 |
12984-12985 |
-RRB- |
denotes |
) |
| T7992 |
12994-12996 |
IN |
denotes |
of |
| T7993 |
12997-13005 |
NNS |
denotes |
patients |
| T7994 |
13006-13010 |
IN |
denotes |
with |
| T7995 |
13011-13019 |
JJ |
denotes |
multiple |
| T7996 |
13030-13040 |
NN |
denotes |
deficiency |
| T7997 |
13020-13029 |
NN |
denotes |
sulfatase |
| T7998 |
13040-13041 |
. |
denotes |
. |
| T7999 |
13041-13382 |
sentence |
denotes |
Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of ataxia, notably in episodic ataxia type 2 and SCA6 [8]. |
| T8000 |
13042-13052 |
RB |
denotes |
Conversely |
| T8001 |
13227-13234 |
VBP |
denotes |
present |
| T8002 |
13052-13054 |
, |
denotes |
, |
| T8003 |
13054-13062 |
NN |
denotes |
mutation |
| T8004 |
13072-13074 |
VBZ |
denotes |
is |
| T8005 |
13063-13065 |
IN |
denotes |
of |
| T8006 |
13066-13071 |
NN |
denotes |
ITPR1 |
| T8007 |
13075-13087 |
RB |
denotes |
biologically |
| T8008 |
13088-13097 |
JJ |
denotes |
plausible |
| T8009 |
13098-13100 |
IN |
denotes |
as |
| T8010 |
13101-13102 |
DT |
denotes |
a |
| T8011 |
13103-13108 |
NN |
denotes |
cause |
| T8012 |
13109-13111 |
IN |
denotes |
of |
| T8013 |
13112-13118 |
NN |
denotes |
ataxia |
| T8014 |
13118-13120 |
: |
denotes |
: |
| T8015 |
13120-13123 |
DT |
denotes |
the |
| T8016 |
13124-13131 |
NN |
denotes |
protein |
| T8017 |
13142-13151 |
VBN |
denotes |
expressed |
| T8018 |
13132-13134 |
VBZ |
denotes |
is |
| T8019 |
13135-13141 |
RB |
denotes |
highly |
| T8020 |
13152-13154 |
IN |
denotes |
in |
| T8021 |
13155-13163 |
NNP |
denotes |
Purkinje |
| T8022 |
13164-13169 |
NNS |
denotes |
cells |
| T8023 |
13169-13170 |
: |
denotes |
; |
| T8024 |
13171-13173 |
IN |
denotes |
as |
| T8025 |
13182-13187 |
VBN |
denotes |
shown |
| T8026 |
13174-13176 |
PRP |
denotes |
we |
| T8027 |
13177-13181 |
VBP |
denotes |
have |
| T8028 |
13188-13192 |
RB |
denotes |
here |
| T8029 |
13192-13194 |
, |
denotes |
, |
| T8030 |
13194-13198 |
NNS |
denotes |
mice |
| T8031 |
13199-13203 |
IN |
denotes |
with |
| T8032 |
13204-13212 |
NN |
denotes |
mutation |
| T8033 |
13213-13215 |
IN |
denotes |
at |
| T8034 |
13216-13220 |
DT |
denotes |
this |
| T8035 |
13221-13226 |
NN |
denotes |
locus |
| T8036 |
13235-13239 |
IN |
denotes |
with |
| T8037 |
13240-13246 |
NN |
denotes |
ataxia |
| T8038 |
13246-13247 |
: |
denotes |
; |
| T8039 |
13248-13251 |
CC |
denotes |
and |
| T8040 |
13252-13261 |
VBN |
denotes |
perturbed |
| T8041 |
13267-13276 |
NN |
denotes |
signaling |
| T8042 |
13262-13266 |
NN |
denotes |
Ca2+ |
| T8043 |
13297-13307 |
VBN |
denotes |
implicated |
| T8044 |
13277-13280 |
VBZ |
denotes |
has |
| T8045 |
13281-13291 |
RB |
denotes |
previously |
| T8046 |
13292-13296 |
VBN |
denotes |
been |
| T8047 |
13308-13310 |
IN |
denotes |
in |
| T8048 |
13311-13314 |
DT |
denotes |
the |
| T8049 |
13315-13323 |
NN |
denotes |
etiology |
| T8050 |
13324-13326 |
IN |
denotes |
of |
| T8051 |
13327-13333 |
NN |
denotes |
ataxia |
| T8052 |
13333-13335 |
, |
denotes |
, |
| T8053 |
13335-13342 |
RB |
denotes |
notably |
| T8054 |
13343-13345 |
IN |
denotes |
in |
| T8055 |
13346-13354 |
JJ |
denotes |
episodic |
| T8056 |
13362-13366 |
NN |
denotes |
type |
| T8057 |
13355-13361 |
NN |
denotes |
ataxia |
| T8058 |
13367-13368 |
CD |
denotes |
2 |
| T8059 |
13369-13372 |
CC |
denotes |
and |
| T8060 |
13373-13377 |
NN |
denotes |
SCA6 |
| T8061 |
13378-13379 |
-LRB- |
denotes |
[ |
| T8062 |
13379-13380 |
CD |
denotes |
8 |
| T8063 |
13380-13381 |
-RRB- |
denotes |
] |
| T8064 |
13381-13382 |
. |
denotes |
. |
| T8065 |
13382-13707 |
sentence |
denotes |
In further support of this conclusion, analysis of protein levels of ITPR1 in Epstein-Barr virus (EBV) immortalized lymphocytes from affected and unaffected AUS1 family members revealed that all affected members showed a dramatic decrease in ITPR1 levels when compared with the family member without the deletion (Figure 4). |
| T8066 |
13383-13385 |
IN |
denotes |
In |
| T8067 |
13560-13568 |
VBD |
denotes |
revealed |
| T8068 |
13386-13393 |
JJ |
denotes |
further |
| T8069 |
13394-13401 |
NN |
denotes |
support |
| T8070 |
13402-13404 |
IN |
denotes |
of |
| T8071 |
13405-13409 |
DT |
denotes |
this |
| T8072 |
13410-13420 |
NN |
denotes |
conclusion |
| T8073 |
13420-13422 |
, |
denotes |
, |
| T8074 |
13422-13430 |
NN |
denotes |
analysis |
| T8075 |
13431-13433 |
IN |
denotes |
of |
| T8076 |
13434-13441 |
NN |
denotes |
protein |
| T8077 |
13442-13448 |
NNS |
denotes |
levels |
| T8078 |
13449-13451 |
IN |
denotes |
of |
| T8079 |
13452-13457 |
NN |
denotes |
ITPR1 |
| T8080 |
13458-13460 |
IN |
denotes |
in |
| T8081 |
13461-13468 |
NN |
denotes |
Epstein |
| T8082 |
13469-13473 |
NN |
denotes |
Barr |
| T8083 |
13468-13469 |
HYPH |
denotes |
- |
| T8084 |
13474-13479 |
NN |
denotes |
virus |
| T8085 |
13499-13510 |
NNS |
denotes |
lymphocytes |
| T8086 |
13480-13481 |
-LRB- |
denotes |
( |
| T8087 |
13481-13484 |
NN |
denotes |
EBV |
| T8088 |
13484-13485 |
-RRB- |
denotes |
) |
| T8089 |
13486-13498 |
VBN |
denotes |
immortalized |
| T8090 |
13511-13515 |
IN |
denotes |
from |
| T8091 |
13516-13524 |
VBN |
denotes |
affected |
| T8092 |
13552-13559 |
NNS |
denotes |
members |
| T8093 |
13525-13528 |
CC |
denotes |
and |
| T8094 |
13529-13539 |
JJ |
denotes |
unaffected |
| T8095 |
13540-13544 |
NN |
denotes |
AUS1 |
| T8096 |
13545-13551 |
NN |
denotes |
family |
| T8097 |
13569-13573 |
IN |
denotes |
that |
| T8098 |
13595-13601 |
VBD |
denotes |
showed |
| T8099 |
13574-13577 |
DT |
denotes |
all |
| T8100 |
13587-13594 |
NNS |
denotes |
members |
| T8101 |
13578-13586 |
VBN |
denotes |
affected |
| T8102 |
13602-13603 |
DT |
denotes |
a |
| T8103 |
13613-13621 |
NN |
denotes |
decrease |
| T8104 |
13604-13612 |
JJ |
denotes |
dramatic |
| T8105 |
13622-13624 |
IN |
denotes |
in |
| T8106 |
13625-13630 |
NN |
denotes |
ITPR1 |
| T8107 |
13631-13637 |
NNS |
denotes |
levels |
| T8108 |
13638-13642 |
WRB |
denotes |
when |
| T8109 |
13643-13651 |
VBN |
denotes |
compared |
| T8110 |
13652-13656 |
IN |
denotes |
with |
| T8111 |
13657-13660 |
DT |
denotes |
the |
| T8112 |
13668-13674 |
NN |
denotes |
member |
| T8113 |
13661-13667 |
NN |
denotes |
family |
| T8114 |
13675-13682 |
IN |
denotes |
without |
| T8115 |
13683-13686 |
DT |
denotes |
the |
| T8116 |
13687-13695 |
NN |
denotes |
deletion |
| T8117 |
13696-13697 |
-LRB- |
denotes |
( |
| T8118 |
13697-13703 |
NN |
denotes |
Figure |
| T8119 |
13704-13705 |
CD |
denotes |
4 |
| T8120 |
13705-13706 |
-RRB- |
denotes |
) |
| T8121 |
13706-13707 |
. |
denotes |
. |
| T8122 |
13707-14509 |
sentence |
denotes |
Figure 4 Western Blot Analysis of ITPR1 Protein Levels in EBV Immortalized Lymphoblasts from AUS1 Family Members
Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the ITPR1 deletion and from an AUS1 family member of unknown disease status who does not carry the deletion. Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels. To demonstrate equal loading, these samples were diluted one in five, and the Western blot was repeated using an antibody against ACTB. Itpr1 contains three domains, an N-terminal inositol triphosphate binding domain, a coupling domain, and a C-terminal transmembrane domain; it also contains two protein kinase A phosphorylation sites and an ATP-binding site. |
| T8123 |
14285-14290 |
NN |
denotes |
Itpr1 |
| T8124 |
14291-14299 |
VBZ |
denotes |
contains |
| T8125 |
14433-14441 |
VBZ |
denotes |
contains |
| T8126 |
14300-14305 |
CD |
denotes |
three |
| T8127 |
14306-14313 |
NNS |
denotes |
domains |
| T8128 |
14313-14315 |
, |
denotes |
, |
| T8129 |
14315-14317 |
DT |
denotes |
an |
| T8130 |
14359-14365 |
NN |
denotes |
domain |
| T8131 |
14318-14319 |
NN |
denotes |
N |
| T8132 |
14320-14328 |
JJ |
denotes |
terminal |
| T8133 |
14319-14320 |
HYPH |
denotes |
- |
| T8134 |
14329-14337 |
NN |
denotes |
inositol |
| T8135 |
14338-14350 |
NN |
denotes |
triphosphate |
| T8136 |
14351-14358 |
NN |
denotes |
binding |
| T8137 |
14365-14367 |
, |
denotes |
, |
| T8138 |
14367-14368 |
DT |
denotes |
a |
| T8139 |
14378-14384 |
NN |
denotes |
domain |
| T8140 |
14369-14377 |
VBG |
denotes |
coupling |
| T8141 |
14384-14386 |
, |
denotes |
, |
| T8142 |
14386-14389 |
CC |
denotes |
and |
| T8143 |
14390-14391 |
DT |
denotes |
a |
| T8144 |
14417-14423 |
NN |
denotes |
domain |
| T8145 |
14392-14393 |
NN |
denotes |
C |
| T8146 |
14394-14402 |
JJ |
denotes |
terminal |
| T8147 |
14393-14394 |
HYPH |
denotes |
- |
| T8148 |
14403-14416 |
NN |
denotes |
transmembrane |
| T8149 |
14423-14424 |
: |
denotes |
; |
| T8150 |
14425-14427 |
PRP |
denotes |
it |
| T8151 |
14428-14432 |
RB |
denotes |
also |
| T8152 |
14442-14445 |
CD |
denotes |
two |
| T8153 |
14479-14484 |
NNS |
denotes |
sites |
| T8154 |
14446-14453 |
NN |
denotes |
protein |
| T8155 |
14461-14462 |
NN |
denotes |
A |
| T8156 |
14454-14460 |
NN |
denotes |
kinase |
| T8157 |
14463-14478 |
NN |
denotes |
phosphorylation |
| T8158 |
14485-14488 |
CC |
denotes |
and |
| T8159 |
14489-14491 |
DT |
denotes |
an |
| T8160 |
14504-14508 |
NN |
denotes |
site |
| T8161 |
14492-14495 |
NN |
denotes |
ATP |
| T8162 |
14496-14503 |
VBG |
denotes |
binding |
| T8163 |
14495-14496 |
HYPH |
denotes |
- |
| T8164 |
14508-14509 |
. |
denotes |
. |
| T8165 |
14509-14688 |
sentence |
denotes |
Itpr1 is coupled to Ca2+ channels and facilitates Ca2+ release from the endoplasmic reticulum after binding by the intracellular second messenger inositol 1,4,5-triphosphate [9]. |
| T8166 |
14510-14515 |
NN |
denotes |
Itpr1 |
| T8167 |
14519-14526 |
VBN |
denotes |
coupled |
| T8168 |
14516-14518 |
VBZ |
denotes |
is |
| T8169 |
14527-14529 |
IN |
denotes |
to |
| T8170 |
14530-14534 |
NN |
denotes |
Ca2+ |
| T8171 |
14535-14543 |
NNS |
denotes |
channels |
| T8172 |
14544-14547 |
CC |
denotes |
and |
| T8173 |
14548-14559 |
VBZ |
denotes |
facilitates |
| T8174 |
14560-14564 |
NN |
denotes |
Ca2+ |
| T8175 |
14565-14572 |
NN |
denotes |
release |
| T8176 |
14573-14577 |
IN |
denotes |
from |
| T8177 |
14578-14581 |
DT |
denotes |
the |
| T8178 |
14594-14603 |
NN |
denotes |
reticulum |
| T8179 |
14582-14593 |
JJ |
denotes |
endoplasmic |
| T8180 |
14604-14609 |
IN |
denotes |
after |
| T8181 |
14610-14617 |
NN |
denotes |
binding |
| T8182 |
14618-14620 |
IN |
denotes |
by |
| T8183 |
14621-14624 |
DT |
denotes |
the |
| T8184 |
14646-14655 |
NN |
denotes |
messenger |
| T8185 |
14625-14638 |
JJ |
denotes |
intracellular |
| T8186 |
14639-14645 |
JJ |
denotes |
second |
| T8187 |
14656-14664 |
NN |
denotes |
inositol |
| T8188 |
14671-14683 |
NN |
denotes |
triphosphate |
| T8189 |
14665-14666 |
CD |
denotes |
1 |
| T8190 |
14669-14670 |
CD |
denotes |
5 |
| T8191 |
14666-14667 |
, |
denotes |
, |
| T8192 |
14667-14668 |
CD |
denotes |
4 |
| T8193 |
14668-14669 |
, |
denotes |
, |
| T8194 |
14670-14671 |
HYPH |
denotes |
- |
| T8195 |
14684-14685 |
-LRB- |
denotes |
[ |
| T8196 |
14685-14686 |
CD |
denotes |
9 |
| T8197 |
14686-14687 |
-RRB- |
denotes |
] |
| T8198 |
14687-14688 |
. |
denotes |
. |
| T8199 |
14688-14751 |
sentence |
denotes |
Itpr1 is enriched in the Purkinje cells of the cerebellum [4]. |
| T8200 |
14689-14694 |
NN |
denotes |
Itpr1 |
| T8201 |
14698-14706 |
VBN |
denotes |
enriched |
| T8202 |
14695-14697 |
VBZ |
denotes |
is |
| T8203 |
14707-14709 |
IN |
denotes |
in |
| T8204 |
14710-14713 |
DT |
denotes |
the |
| T8205 |
14723-14728 |
NNS |
denotes |
cells |
| T8206 |
14714-14722 |
NNP |
denotes |
Purkinje |
| T8207 |
14729-14731 |
IN |
denotes |
of |
| T8208 |
14732-14735 |
DT |
denotes |
the |
| T8209 |
14736-14746 |
NN |
denotes |
cerebellum |
| T8210 |
14747-14748 |
-LRB- |
denotes |
[ |
| T8211 |
14748-14749 |
CD |
denotes |
4 |
| T8212 |
14749-14750 |
-RRB- |
denotes |
] |
| T8213 |
14750-14751 |
. |
denotes |
. |
| T8214 |
14751-14818 |
sentence |
denotes |
ITPR1 mutations have more than one potential pathogenic mechanism. |
| T8215 |
14752-14757 |
NN |
denotes |
ITPR1 |
| T8216 |
14758-14767 |
NNS |
denotes |
mutations |
| T8217 |
14768-14772 |
VBP |
denotes |
have |
| T8218 |
14773-14777 |
JJR |
denotes |
more |
| T8219 |
14783-14786 |
CD |
denotes |
one |
| T8220 |
14778-14782 |
IN |
denotes |
than |
| T8221 |
14808-14817 |
NN |
denotes |
mechanism |
| T8222 |
14787-14796 |
JJ |
denotes |
potential |
| T8223 |
14797-14807 |
JJ |
denotes |
pathogenic |
| T8224 |
14817-14818 |
. |
denotes |
. |
| T8225 |
14818-15142 |
sentence |
denotes |
First, the disease may be a result of haploinsufficiency at ITPR1; this concept is consistent with the observation that heterozygous deletion leads to a later onset disorder in humans, whereas homozygous deletion in mice leads to an early onset disorder, able to be expressed within the much shorter life span of the mouse. |
| T8226 |
14819-14824 |
RB |
denotes |
First |
| T8227 |
14899-14901 |
VBZ |
denotes |
is |
| T8228 |
14824-14826 |
, |
denotes |
, |
| T8229 |
14826-14829 |
DT |
denotes |
the |
| T8230 |
14830-14837 |
NN |
denotes |
disease |
| T8231 |
14842-14844 |
VB |
denotes |
be |
| T8232 |
14838-14841 |
MD |
denotes |
may |
| T8233 |
14845-14846 |
DT |
denotes |
a |
| T8234 |
14847-14853 |
NN |
denotes |
result |
| T8235 |
14854-14856 |
IN |
denotes |
of |
| T8236 |
14857-14875 |
NN |
denotes |
haploinsufficiency |
| T8237 |
14876-14878 |
IN |
denotes |
at |
| T8238 |
14879-14884 |
NN |
denotes |
ITPR1 |
| T8239 |
14884-14885 |
: |
denotes |
; |
| T8240 |
14886-14890 |
DT |
denotes |
this |
| T8241 |
14891-14898 |
NN |
denotes |
concept |
| T8242 |
14902-14912 |
JJ |
denotes |
consistent |
| T8243 |
14913-14917 |
IN |
denotes |
with |
| T8244 |
14918-14921 |
DT |
denotes |
the |
| T8245 |
14922-14933 |
NN |
denotes |
observation |
| T8246 |
14934-14938 |
IN |
denotes |
that |
| T8247 |
14961-14966 |
VBZ |
denotes |
leads |
| T8248 |
14939-14951 |
JJ |
denotes |
heterozygous |
| T8249 |
14952-14960 |
NN |
denotes |
deletion |
| T8250 |
14967-14969 |
IN |
denotes |
to |
| T8251 |
14970-14971 |
DT |
denotes |
a |
| T8252 |
14984-14992 |
NN |
denotes |
disorder |
| T8253 |
14972-14977 |
JJ |
denotes |
later |
| T8254 |
14978-14983 |
NN |
denotes |
onset |
| T8255 |
14993-14995 |
IN |
denotes |
in |
| T8256 |
14996-15002 |
NNS |
denotes |
humans |
| T8257 |
15002-15004 |
, |
denotes |
, |
| T8258 |
15004-15011 |
IN |
denotes |
whereas |
| T8259 |
15040-15045 |
VBZ |
denotes |
leads |
| T8260 |
15012-15022 |
JJ |
denotes |
homozygous |
| T8261 |
15023-15031 |
NN |
denotes |
deletion |
| T8262 |
15032-15034 |
IN |
denotes |
in |
| T8263 |
15035-15039 |
NNS |
denotes |
mice |
| T8264 |
15046-15048 |
IN |
denotes |
to |
| T8265 |
15049-15051 |
DT |
denotes |
an |
| T8266 |
15064-15072 |
NN |
denotes |
disorder |
| T8267 |
15052-15057 |
JJ |
denotes |
early |
| T8268 |
15058-15063 |
NN |
denotes |
onset |
| T8269 |
15072-15074 |
, |
denotes |
, |
| T8270 |
15074-15078 |
JJ |
denotes |
able |
| T8271 |
15079-15081 |
TO |
denotes |
to |
| T8272 |
15085-15094 |
VBN |
denotes |
expressed |
| T8273 |
15082-15084 |
VB |
denotes |
be |
| T8274 |
15095-15101 |
IN |
denotes |
within |
| T8275 |
15102-15105 |
DT |
denotes |
the |
| T8276 |
15124-15128 |
NN |
denotes |
span |
| T8277 |
15106-15110 |
RB |
denotes |
much |
| T8278 |
15111-15118 |
JJR |
denotes |
shorter |
| T8279 |
15119-15123 |
NN |
denotes |
life |
| T8280 |
15129-15131 |
IN |
denotes |
of |
| T8281 |
15132-15135 |
DT |
denotes |
the |
| T8282 |
15136-15141 |
NN |
denotes |
mouse |
| T8283 |
15141-15142 |
. |
denotes |
. |
| T8284 |
15142-15545 |
sentence |
denotes |
Second, we cannot rule out the existence of an alternate start site for ITPR1 that may result in a product that confers a pathogenic gain of function to the protein; however, Western blot analysis of cells derived from affected AUS1 family members, which was performed using an antibody raised against the C-terminal portion of ITPR1, failed to identify any disease-specific truncated protein products. |
| T8285 |
15143-15149 |
RB |
denotes |
Second |
| T8286 |
15478-15484 |
VBD |
denotes |
failed |
| T8287 |
15149-15151 |
, |
denotes |
, |
| T8288 |
15151-15153 |
PRP |
denotes |
we |
| T8289 |
15161-15165 |
VB |
denotes |
rule |
| T8290 |
15154-15157 |
MD |
denotes |
can |
| T8291 |
15157-15160 |
RB |
denotes |
not |
| T8292 |
15166-15169 |
RP |
denotes |
out |
| T8293 |
15170-15173 |
DT |
denotes |
the |
| T8294 |
15174-15183 |
NN |
denotes |
existence |
| T8295 |
15184-15186 |
IN |
denotes |
of |
| T8296 |
15187-15189 |
DT |
denotes |
an |
| T8297 |
15206-15210 |
NN |
denotes |
site |
| T8298 |
15190-15199 |
JJ |
denotes |
alternate |
| T8299 |
15200-15205 |
NN |
denotes |
start |
| T8300 |
15211-15214 |
IN |
denotes |
for |
| T8301 |
15215-15220 |
NN |
denotes |
ITPR1 |
| T8302 |
15221-15225 |
WDT |
denotes |
that |
| T8303 |
15230-15236 |
VB |
denotes |
result |
| T8304 |
15226-15229 |
MD |
denotes |
may |
| T8305 |
15237-15239 |
IN |
denotes |
in |
| T8306 |
15240-15241 |
DT |
denotes |
a |
| T8307 |
15242-15249 |
NN |
denotes |
product |
| T8308 |
15250-15254 |
WDT |
denotes |
that |
| T8309 |
15255-15262 |
VBZ |
denotes |
confers |
| T8310 |
15263-15264 |
DT |
denotes |
a |
| T8311 |
15276-15280 |
NN |
denotes |
gain |
| T8312 |
15265-15275 |
JJ |
denotes |
pathogenic |
| T8313 |
15281-15283 |
IN |
denotes |
of |
| T8314 |
15284-15292 |
NN |
denotes |
function |
| T8315 |
15293-15295 |
IN |
denotes |
to |
| T8316 |
15296-15299 |
DT |
denotes |
the |
| T8317 |
15300-15307 |
NN |
denotes |
protein |
| T8318 |
15307-15308 |
: |
denotes |
; |
| T8319 |
15309-15316 |
RB |
denotes |
however |
| T8320 |
15316-15318 |
, |
denotes |
, |
| T8321 |
15318-15325 |
NNP |
denotes |
Western |
| T8322 |
15326-15330 |
NN |
denotes |
blot |
| T8323 |
15331-15339 |
NN |
denotes |
analysis |
| T8324 |
15340-15342 |
IN |
denotes |
of |
| T8325 |
15343-15348 |
NNS |
denotes |
cells |
| T8326 |
15349-15356 |
VBN |
denotes |
derived |
| T8327 |
15357-15361 |
IN |
denotes |
from |
| T8328 |
15362-15370 |
VBN |
denotes |
affected |
| T8329 |
15383-15390 |
NNS |
denotes |
members |
| T8330 |
15371-15375 |
NN |
denotes |
AUS1 |
| T8331 |
15376-15382 |
NN |
denotes |
family |
| T8332 |
15390-15392 |
, |
denotes |
, |
| T8333 |
15392-15397 |
WDT |
denotes |
which |
| T8334 |
15402-15411 |
VBN |
denotes |
performed |
| T8335 |
15398-15401 |
VBD |
denotes |
was |
| T8336 |
15412-15417 |
VBG |
denotes |
using |
| T8337 |
15418-15420 |
DT |
denotes |
an |
| T8338 |
15421-15429 |
NN |
denotes |
antibody |
| T8339 |
15430-15436 |
VBN |
denotes |
raised |
| T8340 |
15437-15444 |
IN |
denotes |
against |
| T8341 |
15445-15448 |
DT |
denotes |
the |
| T8342 |
15460-15467 |
NN |
denotes |
portion |
| T8343 |
15449-15450 |
NN |
denotes |
C |
| T8344 |
15451-15459 |
JJ |
denotes |
terminal |
| T8345 |
15450-15451 |
HYPH |
denotes |
- |
| T8346 |
15468-15470 |
IN |
denotes |
of |
| T8347 |
15471-15476 |
NN |
denotes |
ITPR1 |
| T8348 |
15476-15478 |
, |
denotes |
, |
| T8349 |
15485-15487 |
TO |
denotes |
to |
| T8350 |
15488-15496 |
VB |
denotes |
identify |
| T8351 |
15497-15500 |
DT |
denotes |
any |
| T8352 |
15536-15544 |
NNS |
denotes |
products |
| T8353 |
15501-15508 |
NN |
denotes |
disease |
| T8354 |
15509-15517 |
JJ |
denotes |
specific |
| T8355 |
15508-15509 |
HYPH |
denotes |
- |
| T8356 |
15518-15527 |
VBN |
denotes |
truncated |
| T8357 |
15528-15535 |
NN |
denotes |
protein |
| T8358 |
15544-15545 |
. |
denotes |
. |
| T8359 |
15545-15681 |
sentence |
denotes |
Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder. |
| T8360 |
15546-15553 |
RB |
denotes |
Clearly |
| T8361 |
15624-15628 |
VB |
denotes |
help |
| T8362 |
15553-15555 |
, |
denotes |
, |
| T8363 |
15555-15558 |
DT |
denotes |
the |
| T8364 |
15559-15573 |
NN |
denotes |
identification |
| T8365 |
15574-15576 |
IN |
denotes |
of |
| T8366 |
15577-15585 |
JJ |
denotes |
distinct |
| T8367 |
15592-15601 |
NNS |
denotes |
mutations |
| T8368 |
15586-15591 |
NN |
denotes |
ITPR1 |
| T8369 |
15602-15612 |
VBG |
denotes |
underlying |
| T8370 |
15613-15618 |
NN |
denotes |
SCA15 |
| T8371 |
15619-15623 |
MD |
denotes |
will |
| T8372 |
15629-15638 |
VB |
denotes |
elucidate |
| T8373 |
15639-15642 |
DT |
denotes |
the |
| T8374 |
15654-15663 |
NN |
denotes |
mechanism |
| T8375 |
15643-15653 |
JJ |
denotes |
pathogenic |
| T8376 |
15664-15666 |
IN |
denotes |
of |
| T8377 |
15667-15671 |
DT |
denotes |
this |
| T8378 |
15672-15680 |
NN |
denotes |
disorder |
| T8379 |
15680-15681 |
. |
denotes |
. |
| T8380 |
15681-15783 |
sentence |
denotes |
We show here the utility of investigating spontaneous mouse mutations in understanding human disease. |
| T8381 |
15682-15684 |
PRP |
denotes |
We |
| T8382 |
15685-15689 |
VBP |
denotes |
show |
| T8383 |
15690-15694 |
RB |
denotes |
here |
| T8384 |
15695-15698 |
DT |
denotes |
the |
| T8385 |
15699-15706 |
NN |
denotes |
utility |
| T8386 |
15707-15709 |
IN |
denotes |
of |
| T8387 |
15710-15723 |
VBG |
denotes |
investigating |
| T8388 |
15724-15735 |
JJ |
denotes |
spontaneous |
| T8389 |
15742-15751 |
NNS |
denotes |
mutations |
| T8390 |
15736-15741 |
NN |
denotes |
mouse |
| T8391 |
15752-15754 |
IN |
denotes |
in |
| T8392 |
15755-15768 |
VBG |
denotes |
understanding |
| T8393 |
15769-15774 |
JJ |
denotes |
human |
| T8394 |
15775-15782 |
NN |
denotes |
disease |
| T8395 |
15782-15783 |
. |
denotes |
. |
| T8396 |
15783-16030 |
sentence |
denotes |
Currently, the small number of aged Itpr1wt/Δ18 animals precludes us from examining these mice for subtle signs and symptoms similar to those seen in SCA15 patients; however, these mice are clearly of interest to us as a potential model of SCA15. |
| T8397 |
15784-15793 |
RB |
denotes |
Currently |
| T8398 |
15840-15849 |
VBZ |
denotes |
precludes |
| T8399 |
15793-15795 |
, |
denotes |
, |
| T8400 |
15795-15798 |
DT |
denotes |
the |
| T8401 |
15805-15811 |
NN |
denotes |
number |
| T8402 |
15799-15804 |
JJ |
denotes |
small |
| T8403 |
15812-15814 |
IN |
denotes |
of |
| T8404 |
15815-15819 |
VBN |
denotes |
aged |
| T8405 |
15832-15839 |
NNS |
denotes |
animals |
| T8406 |
15820-15827 |
NN |
denotes |
Itpr1wt |
| T8407 |
15828-15831 |
NN |
denotes |
Δ18 |
| T8408 |
15827-15828 |
HYPH |
denotes |
/ |
| T8409 |
15970-15973 |
VBP |
denotes |
are |
| T8410 |
15850-15852 |
PRP |
denotes |
us |
| T8411 |
15853-15857 |
IN |
denotes |
from |
| T8412 |
15858-15867 |
VBG |
denotes |
examining |
| T8413 |
15868-15873 |
DT |
denotes |
these |
| T8414 |
15874-15878 |
NNS |
denotes |
mice |
| T8415 |
15879-15882 |
IN |
denotes |
for |
| T8416 |
15883-15889 |
JJ |
denotes |
subtle |
| T8417 |
15890-15895 |
NNS |
denotes |
signs |
| T8418 |
15896-15899 |
CC |
denotes |
and |
| T8419 |
15900-15908 |
NNS |
denotes |
symptoms |
| T8420 |
15909-15916 |
JJ |
denotes |
similar |
| T8421 |
15917-15919 |
IN |
denotes |
to |
| T8422 |
15920-15925 |
DT |
denotes |
those |
| T8423 |
15926-15930 |
VBN |
denotes |
seen |
| T8424 |
15931-15933 |
IN |
denotes |
in |
| T8425 |
15934-15939 |
NN |
denotes |
SCA15 |
| T8426 |
15940-15948 |
NNS |
denotes |
patients |
| T8427 |
15948-15949 |
: |
denotes |
; |
| T8428 |
15950-15957 |
RB |
denotes |
however |
| T8429 |
15957-15959 |
, |
denotes |
, |
| T8430 |
15959-15964 |
DT |
denotes |
these |
| T8431 |
15965-15969 |
NNS |
denotes |
mice |
| T8432 |
15974-15981 |
RB |
denotes |
clearly |
| T8433 |
15982-15984 |
IN |
denotes |
of |
| T8434 |
15985-15993 |
NN |
denotes |
interest |
| T8435 |
15994-15996 |
IN |
denotes |
to |
| T8436 |
15997-15999 |
PRP |
denotes |
us |
| T8437 |
16000-16002 |
IN |
denotes |
as |
| T8438 |
16003-16004 |
DT |
denotes |
a |
| T8439 |
16015-16020 |
NN |
denotes |
model |
| T8440 |
16005-16014 |
JJ |
denotes |
potential |
| T8441 |
16021-16023 |
IN |
denotes |
of |
| T8442 |
16024-16029 |
NN |
denotes |
SCA15 |
| T8443 |
16029-16030 |
. |
denotes |
. |
| T8444 |
16030-16175 |
sentence |
denotes |
These data also demonstrate that genome-wide SNP assay can facilitate rapid detection of structural genomic mutations that may underlie disease. |
| T8445 |
16031-16036 |
DT |
denotes |
These |
| T8446 |
16037-16041 |
NNS |
denotes |
data |
| T8447 |
16047-16058 |
VBP |
denotes |
demonstrate |
| T8448 |
16042-16046 |
RB |
denotes |
also |
| T8449 |
16059-16063 |
IN |
denotes |
that |
| T8450 |
16090-16100 |
VB |
denotes |
facilitate |
| T8451 |
16064-16070 |
NN |
denotes |
genome |
| T8452 |
16071-16075 |
JJ |
denotes |
wide |
| T8453 |
16070-16071 |
HYPH |
denotes |
- |
| T8454 |
16080-16085 |
NN |
denotes |
assay |
| T8455 |
16076-16079 |
NN |
denotes |
SNP |
| T8456 |
16086-16089 |
MD |
denotes |
can |
| T8457 |
16101-16106 |
JJ |
denotes |
rapid |
| T8458 |
16107-16116 |
NN |
denotes |
detection |
| T8459 |
16117-16119 |
IN |
denotes |
of |
| T8460 |
16120-16130 |
JJ |
denotes |
structural |
| T8461 |
16139-16148 |
NNS |
denotes |
mutations |
| T8462 |
16131-16138 |
JJ |
denotes |
genomic |
| T8463 |
16149-16153 |
WDT |
denotes |
that |
| T8464 |
16158-16166 |
VB |
denotes |
underlie |
| T8465 |
16154-16157 |
MD |
denotes |
may |
| T8466 |
16167-16174 |
NN |
denotes |
disease |
| T8467 |
16174-16175 |
. |
denotes |
. |
| T8468 |
16175-16291 |
sentence |
denotes |
The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15. |
| T8469 |
16176-16179 |
DT |
denotes |
The |
| T8470 |
16180-16184 |
NNS |
denotes |
data |
| T8471 |
16214-16221 |
VBP |
denotes |
provide |
| T8472 |
16185-16193 |
VBN |
denotes |
provided |
| T8473 |
16194-16196 |
IN |
denotes |
by |
| T8474 |
16197-16202 |
DT |
denotes |
these |
| T8475 |
16203-16213 |
NNS |
denotes |
approaches |
| T8476 |
16222-16232 |
JJ |
denotes |
compelling |
| T8477 |
16233-16241 |
NN |
denotes |
evidence |
| T8478 |
16242-16246 |
IN |
denotes |
that |
| T8479 |
16278-16284 |
VBZ |
denotes |
causes |
| T8480 |
16247-16259 |
JJ |
denotes |
heterozygous |
| T8481 |
16260-16268 |
NN |
denotes |
deletion |
| T8482 |
16269-16271 |
IN |
denotes |
of |
| T8483 |
16272-16277 |
NN |
denotes |
ITPR1 |
| T8484 |
16285-16290 |
NN |
denotes |
SCA15 |
| T8485 |
16290-16291 |
. |
denotes |
. |
| T8486 |
16291-16683 |
sentence |
denotes |
Clearly, sequence analysis of ITPR1 in potential SCA15 cases may provide additional insight into the disease, particularly if a stop mutation were to be identified; however, the mutational mechanism noted here means that standard sequencing approaches alone are insufficient to confidently rule out ITPR1 mutation as a cause of disease: a comprehensive gene dosage approach is also required. |
| T8487 |
16292-16299 |
RB |
denotes |
Clearly |
| T8488 |
16357-16364 |
VB |
denotes |
provide |
| T8489 |
16299-16301 |
, |
denotes |
, |
| T8490 |
16301-16309 |
NN |
denotes |
sequence |
| T8491 |
16310-16318 |
NN |
denotes |
analysis |
| T8492 |
16319-16321 |
IN |
denotes |
of |
| T8493 |
16322-16327 |
NN |
denotes |
ITPR1 |
| T8494 |
16328-16330 |
IN |
denotes |
in |
| T8495 |
16331-16340 |
JJ |
denotes |
potential |
| T8496 |
16347-16352 |
NNS |
denotes |
cases |
| T8497 |
16341-16346 |
NN |
denotes |
SCA15 |
| T8498 |
16353-16356 |
MD |
denotes |
may |
| T8499 |
16502-16507 |
VBZ |
denotes |
means |
| T8500 |
16365-16375 |
JJ |
denotes |
additional |
| T8501 |
16376-16383 |
NN |
denotes |
insight |
| T8502 |
16384-16388 |
IN |
denotes |
into |
| T8503 |
16389-16392 |
DT |
denotes |
the |
| T8504 |
16393-16400 |
NN |
denotes |
disease |
| T8505 |
16400-16402 |
, |
denotes |
, |
| T8506 |
16402-16414 |
RB |
denotes |
particularly |
| T8507 |
16434-16438 |
VBD |
denotes |
were |
| T8508 |
16415-16417 |
IN |
denotes |
if |
| T8509 |
16418-16419 |
DT |
denotes |
a |
| T8510 |
16425-16433 |
NN |
denotes |
mutation |
| T8511 |
16420-16424 |
NN |
denotes |
stop |
| T8512 |
16439-16441 |
TO |
denotes |
to |
| T8513 |
16445-16455 |
VBN |
denotes |
identified |
| T8514 |
16442-16444 |
VB |
denotes |
be |
| T8515 |
16455-16456 |
: |
denotes |
; |
| T8516 |
16457-16464 |
RB |
denotes |
however |
| T8517 |
16464-16466 |
, |
denotes |
, |
| T8518 |
16466-16469 |
DT |
denotes |
the |
| T8519 |
16481-16490 |
NN |
denotes |
mechanism |
| T8520 |
16470-16480 |
JJ |
denotes |
mutational |
| T8521 |
16491-16496 |
VBN |
denotes |
noted |
| T8522 |
16497-16501 |
RB |
denotes |
here |
| T8523 |
16508-16512 |
IN |
denotes |
that |
| T8524 |
16674-16682 |
VBN |
denotes |
required |
| T8525 |
16513-16521 |
JJ |
denotes |
standard |
| T8526 |
16533-16543 |
NNS |
denotes |
approaches |
| T8527 |
16522-16532 |
NN |
denotes |
sequencing |
| T8528 |
16550-16553 |
VBP |
denotes |
are |
| T8529 |
16544-16549 |
RB |
denotes |
alone |
| T8530 |
16554-16566 |
JJ |
denotes |
insufficient |
| T8531 |
16567-16569 |
TO |
denotes |
to |
| T8532 |
16582-16586 |
VB |
denotes |
rule |
| T8533 |
16570-16581 |
RB |
denotes |
confidently |
| T8534 |
16587-16590 |
RP |
denotes |
out |
| T8535 |
16591-16596 |
NN |
denotes |
ITPR1 |
| T8536 |
16597-16605 |
NN |
denotes |
mutation |
| T8537 |
16606-16608 |
IN |
denotes |
as |
| T8538 |
16609-16610 |
DT |
denotes |
a |
| T8539 |
16611-16616 |
NN |
denotes |
cause |
| T8540 |
16617-16619 |
IN |
denotes |
of |
| T8541 |
16620-16627 |
NN |
denotes |
disease |
| T8542 |
16627-16629 |
: |
denotes |
: |
| T8543 |
16629-16630 |
DT |
denotes |
a |
| T8544 |
16657-16665 |
NN |
denotes |
approach |
| T8545 |
16631-16644 |
JJ |
denotes |
comprehensive |
| T8546 |
16645-16649 |
NN |
denotes |
gene |
| T8547 |
16650-16656 |
NN |
denotes |
dosage |
| T8548 |
16666-16668 |
VBZ |
denotes |
is |
| T8549 |
16669-16673 |
RB |
denotes |
also |
| T8550 |
16682-16683 |
. |
denotes |
. |
| T8551 |
16683-16903 |
sentence |
denotes |
Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families. |
| T8552 |
16684-16689 |
VBN |
denotes |
Given |
| T8553 |
16847-16849 |
VBZ |
denotes |
is |
| T8554 |
16690-16694 |
IN |
denotes |
that |
| T8555 |
16781-16787 |
VBN |
denotes |
mapped |
| T8556 |
16695-16700 |
NN |
denotes |
SCA16 |
| T8557 |
16701-16704 |
CC |
denotes |
and |
| T8558 |
16705-16714 |
JJ |
denotes |
autosomal |
| T8559 |
16750-16756 |
NN |
denotes |
ataxia |
| T8560 |
16715-16723 |
JJ |
denotes |
dominant |
| T8561 |
16724-16734 |
JJ |
denotes |
congenital |
| T8562 |
16735-16749 |
JJ |
denotes |
nonprogressive |
| T8563 |
16757-16761 |
VBP |
denotes |
have |
| T8564 |
16762-16766 |
DT |
denotes |
both |
| T8565 |
16767-16775 |
RB |
denotes |
recently |
| T8566 |
16776-16780 |
VBN |
denotes |
been |
| T8567 |
16788-16790 |
IN |
denotes |
to |
| T8568 |
16791-16798 |
NNS |
denotes |
regions |
| T8569 |
16799-16810 |
VBG |
denotes |
overlapping |
| T8570 |
16811-16815 |
IN |
denotes |
with |
| T8571 |
16816-16819 |
DT |
denotes |
the |
| T8572 |
16826-16831 |
NN |
denotes |
locus |
| T8573 |
16820-16825 |
NN |
denotes |
SCA15 |
| T8574 |
16832-16833 |
-LRB- |
denotes |
[ |
| T8575 |
16836-16838 |
CD |
denotes |
11 |
| T8576 |
16833-16835 |
CD |
denotes |
10 |
| T8577 |
16835-16836 |
, |
denotes |
, |
| T8578 |
16838-16839 |
-RRB- |
denotes |
] |
| T8579 |
16839-16841 |
, |
denotes |
, |
| T8580 |
16841-16846 |
NN |
denotes |
ITPR1 |
| T8581 |
16850-16851 |
DT |
denotes |
a |
| T8582 |
16852-16856 |
NN |
denotes |
gene |
| T8583 |
16857-16859 |
IN |
denotes |
of |
| T8584 |
16860-16870 |
NN |
denotes |
importance |
| T8585 |
16871-16874 |
IN |
denotes |
for |
| T8586 |
16875-16884 |
NN |
denotes |
screening |
| T8587 |
16885-16887 |
IN |
denotes |
in |
| T8588 |
16888-16893 |
DT |
denotes |
these |
| T8589 |
16894-16902 |
NNS |
denotes |
families |
| T8590 |
16902-16903 |
. |
denotes |
. |
| T8591 |
16903-17042 |
sentence |
denotes |
These data add weight to a role for aberrant intracellular Ca2+ signaling in Purkinje cells in the pathogenesis of spinocerebellar ataxia. |
| T8592 |
16904-16909 |
DT |
denotes |
These |
| T8593 |
16910-16914 |
NNS |
denotes |
data |
| T8594 |
16915-16918 |
VBP |
denotes |
add |
| T8595 |
16919-16925 |
NN |
denotes |
weight |
| T8596 |
16926-16928 |
IN |
denotes |
to |
| T8597 |
16929-16930 |
DT |
denotes |
a |
| T8598 |
16931-16935 |
NN |
denotes |
role |
| T8599 |
16936-16939 |
IN |
denotes |
for |
| T8600 |
16940-16948 |
JJ |
denotes |
aberrant |
| T8601 |
16968-16977 |
NN |
denotes |
signaling |
| T8602 |
16949-16962 |
JJ |
denotes |
intracellular |
| T8603 |
16963-16967 |
NN |
denotes |
Ca2+ |
| T8604 |
16978-16980 |
IN |
denotes |
in |
| T8605 |
16981-16989 |
NNP |
denotes |
Purkinje |
| T8606 |
16990-16995 |
NNS |
denotes |
cells |
| T8607 |
16996-16998 |
IN |
denotes |
in |
| T8608 |
16999-17002 |
DT |
denotes |
the |
| T8609 |
17003-17015 |
NN |
denotes |
pathogenesis |
| T8610 |
17016-17018 |
IN |
denotes |
of |
| T8611 |
17019-17034 |
JJ |
denotes |
spinocerebellar |
| T8612 |
17035-17041 |
NN |
denotes |
ataxia |
| T8613 |
17041-17042 |
. |
denotes |
. |
| T8971 |
17067-17073 |
NN |
denotes |
Genome |
| T8972 |
17074-17078 |
JJ |
denotes |
wide |
| T8973 |
17073-17074 |
HYPH |
denotes |
- |
| T8974 |
17079-17086 |
NN |
denotes |
linkage |
| T8975 |
17087-17089 |
IN |
denotes |
in |
| T8976 |
17090-17094 |
NNS |
denotes |
mice |
| T8977 |
17094-17095 |
. |
denotes |
. |
| T8978 |
17095-17301 |
sentence |
denotes |
One hundred and twenty DNA fragments were amplified across the genome, each selected to contain one or more strain-specific SNPs that would differentiate between C57BL/6J and 129x1/SvJ inbred strains [12]. |
| T8979 |
17096-17099 |
CD |
denotes |
One |
| T8980 |
17100-17107 |
CD |
denotes |
hundred |
| T8981 |
17123-17132 |
NNS |
denotes |
fragments |
| T8982 |
17108-17111 |
CC |
denotes |
and |
| T8983 |
17112-17118 |
CD |
denotes |
twenty |
| T8984 |
17119-17122 |
NN |
denotes |
DNA |
| T8985 |
17138-17147 |
VBN |
denotes |
amplified |
| T8986 |
17133-17137 |
VBD |
denotes |
were |
| T8987 |
17148-17154 |
IN |
denotes |
across |
| T8988 |
17155-17158 |
DT |
denotes |
the |
| T8989 |
17159-17165 |
NN |
denotes |
genome |
| T8990 |
17165-17167 |
, |
denotes |
, |
| T8991 |
17167-17171 |
DT |
denotes |
each |
| T8992 |
17172-17180 |
VBN |
denotes |
selected |
| T8993 |
17181-17183 |
TO |
denotes |
to |
| T8994 |
17184-17191 |
VB |
denotes |
contain |
| T8995 |
17192-17195 |
CD |
denotes |
one |
| T8996 |
17220-17224 |
NNS |
denotes |
SNPs |
| T8997 |
17196-17198 |
CC |
denotes |
or |
| T8998 |
17199-17203 |
JJR |
denotes |
more |
| T8999 |
17204-17210 |
NN |
denotes |
strain |
| T9000 |
17211-17219 |
JJ |
denotes |
specific |
| T9001 |
17210-17211 |
HYPH |
denotes |
- |
| T9002 |
17225-17229 |
WDT |
denotes |
that |
| T9003 |
17236-17249 |
VB |
denotes |
differentiate |
| T9004 |
17230-17235 |
MD |
denotes |
would |
| T9005 |
17250-17257 |
IN |
denotes |
between |
| T9006 |
17258-17263 |
NN |
denotes |
C57BL |
| T9007 |
17264-17266 |
NN |
denotes |
6J |
| T9008 |
17263-17264 |
HYPH |
denotes |
/ |
| T9009 |
17288-17295 |
NNS |
denotes |
strains |
| T9010 |
17267-17270 |
CC |
denotes |
and |
| T9011 |
17271-17276 |
NN |
denotes |
129x1 |
| T9012 |
17277-17280 |
NN |
denotes |
SvJ |
| T9013 |
17276-17277 |
HYPH |
denotes |
/ |
| T9014 |
17281-17287 |
JJ |
denotes |
inbred |
| T9015 |
17296-17297 |
-LRB- |
denotes |
[ |
| T9016 |
17297-17299 |
CD |
denotes |
12 |
| T9017 |
17299-17300 |
-RRB- |
denotes |
] |
| T9018 |
17300-17301 |
. |
denotes |
. |
| T9019 |
17301-17465 |
sentence |
denotes |
Each fragment was initially amplified in 11 affected mice and nine unaffected mice; genotype calling was performed by dye-terminator sequencing of these fragments. |
| T9020 |
17302-17306 |
DT |
denotes |
Each |
| T9021 |
17307-17315 |
NN |
denotes |
fragment |
| T9022 |
17330-17339 |
VBN |
denotes |
amplified |
| T9023 |
17316-17319 |
VBD |
denotes |
was |
| T9024 |
17320-17329 |
RB |
denotes |
initially |
| T9025 |
17407-17416 |
VBN |
denotes |
performed |
| T9026 |
17340-17342 |
IN |
denotes |
in |
| T9027 |
17343-17345 |
CD |
denotes |
11 |
| T9028 |
17355-17359 |
NNS |
denotes |
mice |
| T9029 |
17346-17354 |
VBN |
denotes |
affected |
| T9030 |
17360-17363 |
CC |
denotes |
and |
| T9031 |
17364-17368 |
CD |
denotes |
nine |
| T9032 |
17380-17384 |
NNS |
denotes |
mice |
| T9033 |
17369-17379 |
JJ |
denotes |
unaffected |
| T9034 |
17384-17385 |
: |
denotes |
; |
| T9035 |
17386-17394 |
NN |
denotes |
genotype |
| T9036 |
17395-17402 |
NN |
denotes |
calling |
| T9037 |
17403-17406 |
VBD |
denotes |
was |
| T9038 |
17417-17419 |
IN |
denotes |
by |
| T9039 |
17420-17423 |
NN |
denotes |
dye |
| T9040 |
17424-17434 |
NN |
denotes |
terminator |
| T9041 |
17423-17424 |
HYPH |
denotes |
- |
| T9042 |
17435-17445 |
NN |
denotes |
sequencing |
| T9043 |
17446-17448 |
IN |
denotes |
of |
| T9044 |
17449-17454 |
DT |
denotes |
these |
| T9045 |
17455-17464 |
NNS |
denotes |
fragments |
| T9046 |
17464-17465 |
. |
denotes |
. |
| T9047 |
17465-17666 |
sentence |
denotes |
Linkage analysis using these data was performed using mlink [13], which revealed a positive linkage at Chromosome 6qE1, on the 129x1/SvJ background (two-point LOD score 5.13 at marker 20.MMHAP85FLG2). |
| T9048 |
17466-17473 |
NN |
denotes |
Linkage |
| T9049 |
17474-17482 |
NN |
denotes |
analysis |
| T9050 |
17504-17513 |
VBN |
denotes |
performed |
| T9051 |
17483-17488 |
VBG |
denotes |
using |
| T9052 |
17489-17494 |
DT |
denotes |
these |
| T9053 |
17495-17499 |
NNS |
denotes |
data |
| T9054 |
17500-17503 |
VBD |
denotes |
was |
| T9055 |
17514-17519 |
VBG |
denotes |
using |
| T9056 |
17520-17525 |
NN |
denotes |
mlink |
| T9057 |
17526-17527 |
-LRB- |
denotes |
[ |
| T9058 |
17527-17529 |
CD |
denotes |
13 |
| T9059 |
17529-17530 |
-RRB- |
denotes |
] |
| T9060 |
17530-17532 |
, |
denotes |
, |
| T9061 |
17532-17537 |
WDT |
denotes |
which |
| T9062 |
17538-17546 |
VBD |
denotes |
revealed |
| T9063 |
17547-17548 |
DT |
denotes |
a |
| T9064 |
17558-17565 |
NN |
denotes |
linkage |
| T9065 |
17549-17557 |
JJ |
denotes |
positive |
| T9066 |
17566-17568 |
IN |
denotes |
at |
| T9067 |
17569-17579 |
NN |
denotes |
Chromosome |
| T9068 |
17580-17584 |
NN |
denotes |
6qE1 |
| T9069 |
17584-17586 |
, |
denotes |
, |
| T9070 |
17586-17588 |
IN |
denotes |
on |
| T9071 |
17589-17592 |
DT |
denotes |
the |
| T9072 |
17603-17613 |
NN |
denotes |
background |
| T9073 |
17593-17598 |
NN |
denotes |
129x1 |
| T9074 |
17599-17602 |
NN |
denotes |
SvJ |
| T9075 |
17598-17599 |
HYPH |
denotes |
/ |
| T9076 |
17614-17615 |
-LRB- |
denotes |
( |
| T9077 |
17629-17634 |
NN |
denotes |
score |
| T9078 |
17615-17618 |
CD |
denotes |
two |
| T9079 |
17619-17624 |
NN |
denotes |
point |
| T9080 |
17618-17619 |
HYPH |
denotes |
- |
| T9081 |
17625-17628 |
NN |
denotes |
LOD |
| T9082 |
17635-17639 |
CD |
denotes |
5.13 |
| T9083 |
17640-17642 |
IN |
denotes |
at |
| T9084 |
17643-17649 |
NN |
denotes |
marker |
| T9085 |
17650-17664 |
NN |
denotes |
20.MMHAP85FLG2 |
| T9086 |
17664-17665 |
-RRB- |
denotes |
) |
| T9087 |
17665-17666 |
. |
denotes |
. |
| T9088 |
17666-17813 |
sentence |
denotes |
In an attempt to narrow the disease interval we performed backcross experiments that resulted in the generation of three additional affected mice. |
| T9089 |
17667-17669 |
IN |
denotes |
In |
| T9090 |
17715-17724 |
VBD |
denotes |
performed |
| T9091 |
17670-17672 |
DT |
denotes |
an |
| T9092 |
17673-17680 |
NN |
denotes |
attempt |
| T9093 |
17681-17683 |
TO |
denotes |
to |
| T9094 |
17684-17690 |
VB |
denotes |
narrow |
| T9095 |
17691-17694 |
DT |
denotes |
the |
| T9096 |
17703-17711 |
NN |
denotes |
interval |
| T9097 |
17695-17702 |
NN |
denotes |
disease |
| T9098 |
17712-17714 |
PRP |
denotes |
we |
| T9099 |
17725-17734 |
NN |
denotes |
backcross |
| T9100 |
17735-17746 |
NNS |
denotes |
experiments |
| T9101 |
17747-17751 |
WDT |
denotes |
that |
| T9102 |
17752-17760 |
VBD |
denotes |
resulted |
| T9103 |
17761-17763 |
IN |
denotes |
in |
| T9104 |
17764-17767 |
DT |
denotes |
the |
| T9105 |
17768-17778 |
NN |
denotes |
generation |
| T9106 |
17779-17781 |
IN |
denotes |
of |
| T9107 |
17782-17787 |
CD |
denotes |
three |
| T9108 |
17808-17812 |
NNS |
denotes |
mice |
| T9109 |
17788-17798 |
JJ |
denotes |
additional |
| T9110 |
17799-17807 |
VBN |
denotes |
affected |
| T9111 |
17812-17813 |
. |
denotes |
. |
| T9112 |
17813-18005 |
sentence |
denotes |
Genotyping of all affected mice across the disease-segregating interval revealed flanking recombinants and a candidate region of ~5 Mb, between markers D6Mit37 and 44.MMHAP85FLG5 (Figure S1). |
| T9113 |
17814-17824 |
NN |
denotes |
Genotyping |
| T9114 |
17886-17894 |
VBD |
denotes |
revealed |
| T9115 |
17825-17827 |
IN |
denotes |
of |
| T9116 |
17828-17831 |
DT |
denotes |
all |
| T9117 |
17841-17845 |
NNS |
denotes |
mice |
| T9118 |
17832-17840 |
VBN |
denotes |
affected |
| T9119 |
17846-17852 |
IN |
denotes |
across |
| T9120 |
17853-17856 |
DT |
denotes |
the |
| T9121 |
17877-17885 |
NN |
denotes |
interval |
| T9122 |
17857-17864 |
NN |
denotes |
disease |
| T9123 |
17865-17876 |
VBG |
denotes |
segregating |
| T9124 |
17864-17865 |
HYPH |
denotes |
- |
| T9125 |
17895-17903 |
VBG |
denotes |
flanking |
| T9126 |
17904-17916 |
NNS |
denotes |
recombinants |
| T9127 |
17917-17920 |
CC |
denotes |
and |
| T9128 |
17921-17922 |
DT |
denotes |
a |
| T9129 |
17933-17939 |
NN |
denotes |
region |
| T9130 |
17923-17932 |
NN |
denotes |
candidate |
| T9131 |
17940-17942 |
IN |
denotes |
of |
| T9132 |
17943-17944 |
SYM |
denotes |
~ |
| T9133 |
17944-17945 |
CD |
denotes |
5 |
| T9134 |
17946-17948 |
NN |
denotes |
Mb |
| T9135 |
17948-17950 |
, |
denotes |
, |
| T9136 |
17950-17957 |
IN |
denotes |
between |
| T9137 |
17958-17965 |
NNS |
denotes |
markers |
| T9138 |
17966-17973 |
NN |
denotes |
D6Mit37 |
| T9139 |
17974-17977 |
CC |
denotes |
and |
| T9140 |
17978-17992 |
NN |
denotes |
44.MMHAP85FLG5 |
| T9141 |
17993-17994 |
-LRB- |
denotes |
( |
| T9142 |
18001-18003 |
NN |
denotes |
S1 |
| T9143 |
17994-18000 |
NN |
denotes |
Figure |
| T9144 |
18003-18004 |
-RRB- |
denotes |
) |
| T9145 |
18004-18005 |
. |
denotes |
. |
| T9146 |
18005-18062 |
sentence |
denotes |
This region contains 16 genes and predicted transcripts. |
| T9147 |
18006-18010 |
DT |
denotes |
This |
| T9148 |
18011-18017 |
NN |
denotes |
region |
| T9149 |
18018-18026 |
VBZ |
denotes |
contains |
| T9150 |
18027-18029 |
CD |
denotes |
16 |
| T9151 |
18030-18035 |
NNS |
denotes |
genes |
| T9152 |
18036-18039 |
CC |
denotes |
and |
| T9153 |
18040-18049 |
VBN |
denotes |
predicted |
| T9154 |
18050-18061 |
NNS |
denotes |
transcripts |
| T9155 |
18061-18062 |
. |
denotes |
. |
| T9602 |
18064-18078 |
NN |
denotes |
Identification |
| T9603 |
18079-18081 |
IN |
denotes |
of |
| T9604 |
18082-18085 |
DT |
denotes |
the |
| T9605 |
18105-18111 |
NN |
denotes |
lesion |
| T9606 |
18086-18096 |
VBG |
denotes |
underlying |
| T9607 |
18097-18104 |
JJ |
denotes |
genetic |
| T9608 |
18112-18114 |
IN |
denotes |
in |
| T9609 |
18115-18119 |
NNS |
denotes |
mice |
| T9610 |
18119-18120 |
. |
denotes |
. |
| T9611 |
18120-18231 |
sentence |
denotes |
Identification of similar phenotypes in mice linked to the 6qE1 interval was performed by literature searches. |
| T9612 |
18121-18135 |
NN |
denotes |
Identification |
| T9613 |
18198-18207 |
VBN |
denotes |
performed |
| T9614 |
18136-18138 |
IN |
denotes |
of |
| T9615 |
18139-18146 |
JJ |
denotes |
similar |
| T9616 |
18147-18157 |
NNS |
denotes |
phenotypes |
| T9617 |
18158-18160 |
IN |
denotes |
in |
| T9618 |
18161-18165 |
NNS |
denotes |
mice |
| T9619 |
18166-18172 |
VBN |
denotes |
linked |
| T9620 |
18173-18175 |
IN |
denotes |
to |
| T9621 |
18176-18179 |
DT |
denotes |
the |
| T9622 |
18185-18193 |
NN |
denotes |
interval |
| T9623 |
18180-18184 |
NN |
denotes |
6qE1 |
| T9624 |
18194-18197 |
VBD |
denotes |
was |
| T9625 |
18208-18210 |
IN |
denotes |
by |
| T9626 |
18211-18221 |
NN |
denotes |
literature |
| T9627 |
18222-18230 |
NNS |
denotes |
searches |
| T9628 |
18230-18231 |
. |
denotes |
. |
| T9629 |
18231-18357 |
sentence |
denotes |
This revealed the Itpr1opt/opt mouse, in which disease is caused by homozygous deletion mutation of exons 43 and 44 of Itpr1. |
| T9630 |
18232-18236 |
DT |
denotes |
This |
| T9631 |
18237-18245 |
VBD |
denotes |
revealed |
| T9632 |
18246-18249 |
DT |
denotes |
the |
| T9633 |
18263-18268 |
NN |
denotes |
mouse |
| T9634 |
18250-18258 |
NN |
denotes |
Itpr1opt |
| T9635 |
18259-18262 |
NN |
denotes |
opt |
| T9636 |
18258-18259 |
HYPH |
denotes |
/ |
| T9637 |
18268-18270 |
, |
denotes |
, |
| T9638 |
18270-18272 |
IN |
denotes |
in |
| T9639 |
18290-18296 |
VBN |
denotes |
caused |
| T9640 |
18273-18278 |
WDT |
denotes |
which |
| T9641 |
18279-18286 |
NN |
denotes |
disease |
| T9642 |
18287-18289 |
VBZ |
denotes |
is |
| T9643 |
18297-18299 |
IN |
denotes |
by |
| T9644 |
18300-18310 |
JJ |
denotes |
homozygous |
| T9645 |
18320-18328 |
NN |
denotes |
mutation |
| T9646 |
18311-18319 |
NN |
denotes |
deletion |
| T9647 |
18329-18331 |
IN |
denotes |
of |
| T9648 |
18332-18337 |
NNS |
denotes |
exons |
| T9649 |
18338-18340 |
CD |
denotes |
43 |
| T9650 |
18341-18344 |
CC |
denotes |
and |
| T9651 |
18345-18347 |
CD |
denotes |
44 |
| T9652 |
18348-18350 |
IN |
denotes |
of |
| T9653 |
18351-18356 |
NN |
denotes |
Itpr1 |
| T9654 |
18356-18357 |
. |
denotes |
. |
| T9655 |
18357-18485 |
sentence |
denotes |
Primer pairs were designed to sequence each of the coding exons and at least 50 bp of each flanking intronic sequence of Itpr1. |
| T9656 |
18358-18364 |
NN |
denotes |
Primer |
| T9657 |
18365-18370 |
NNS |
denotes |
pairs |
| T9658 |
18376-18384 |
VBN |
denotes |
designed |
| T9659 |
18371-18375 |
VBD |
denotes |
were |
| T9660 |
18385-18387 |
TO |
denotes |
to |
| T9661 |
18388-18396 |
VB |
denotes |
sequence |
| T9662 |
18397-18401 |
DT |
denotes |
each |
| T9663 |
18402-18404 |
IN |
denotes |
of |
| T9664 |
18405-18408 |
DT |
denotes |
the |
| T9665 |
18416-18421 |
NNS |
denotes |
exons |
| T9666 |
18409-18415 |
NN |
denotes |
coding |
| T9667 |
18422-18425 |
CC |
denotes |
and |
| T9668 |
18426-18428 |
RB |
denotes |
at |
| T9669 |
18435-18437 |
CD |
denotes |
50 |
| T9670 |
18429-18434 |
RBS |
denotes |
least |
| T9671 |
18438-18440 |
NN |
denotes |
bp |
| T9672 |
18441-18443 |
IN |
denotes |
of |
| T9673 |
18444-18448 |
DT |
denotes |
each |
| T9674 |
18467-18475 |
NN |
denotes |
sequence |
| T9675 |
18449-18457 |
VBG |
denotes |
flanking |
| T9676 |
18458-18466 |
JJ |
denotes |
intronic |
| T9677 |
18476-18478 |
IN |
denotes |
of |
| T9678 |
18479-18484 |
NN |
denotes |
Itpr1 |
| T9679 |
18484-18485 |
. |
denotes |
. |
| T9680 |
18485-18577 |
sentence |
denotes |
PCR amplification of each exon was performed using DNA from two affected mice as templates. |
| T9681 |
18486-18489 |
NN |
denotes |
PCR |
| T9682 |
18490-18503 |
NN |
denotes |
amplification |
| T9683 |
18521-18530 |
VBN |
denotes |
performed |
| T9684 |
18504-18506 |
IN |
denotes |
of |
| T9685 |
18507-18511 |
DT |
denotes |
each |
| T9686 |
18512-18516 |
NN |
denotes |
exon |
| T9687 |
18517-18520 |
VBD |
denotes |
was |
| T9688 |
18531-18536 |
VBG |
denotes |
using |
| T9689 |
18537-18540 |
NN |
denotes |
DNA |
| T9690 |
18541-18545 |
IN |
denotes |
from |
| T9691 |
18546-18549 |
CD |
denotes |
two |
| T9692 |
18559-18563 |
NNS |
denotes |
mice |
| T9693 |
18550-18558 |
VBN |
denotes |
affected |
| T9694 |
18564-18566 |
IN |
denotes |
as |
| T9695 |
18567-18576 |
NNS |
denotes |
templates |
| T9696 |
18576-18577 |
. |
denotes |
. |
| T9697 |
18577-18665 |
sentence |
denotes |
The Itpr1Δ18/Δ18 mutation was confirmed by sequencing in all affected mice (Figure S2). |
| T9698 |
18578-18581 |
DT |
denotes |
The |
| T9699 |
18595-18603 |
NN |
denotes |
mutation |
| T9700 |
18582-18590 |
NN |
denotes |
Itpr1Δ18 |
| T9701 |
18591-18594 |
NN |
denotes |
Δ18 |
| T9702 |
18590-18591 |
HYPH |
denotes |
/ |
| T9703 |
18608-18617 |
VBN |
denotes |
confirmed |
| T9704 |
18604-18607 |
VBD |
denotes |
was |
| T9705 |
18618-18620 |
IN |
denotes |
by |
| T9706 |
18621-18631 |
NN |
denotes |
sequencing |
| T9707 |
18632-18634 |
IN |
denotes |
in |
| T9708 |
18635-18638 |
DT |
denotes |
all |
| T9709 |
18648-18652 |
NNS |
denotes |
mice |
| T9710 |
18639-18647 |
VBN |
denotes |
affected |
| T9711 |
18653-18654 |
-LRB- |
denotes |
( |
| T9712 |
18661-18663 |
NN |
denotes |
S2 |
| T9713 |
18654-18660 |
NN |
denotes |
Figure |
| T9714 |
18663-18664 |
-RRB- |
denotes |
) |
| T9715 |
18664-18665 |
. |
denotes |
. |
| T9716 |
18665-18848 |
sentence |
denotes |
Breeding experiments were performed between two female mice heterozygous for the current mutation (Itpr1wt/Δ18) and a male mouse heterozygous for the Itpr1opt mutation (Itpr1wt/opt). |
| T9717 |
18666-18674 |
VBG |
denotes |
Breeding |
| T9718 |
18675-18686 |
NNS |
denotes |
experiments |
| T9719 |
18692-18701 |
VBN |
denotes |
performed |
| T9720 |
18687-18691 |
VBD |
denotes |
were |
| T9721 |
18702-18709 |
IN |
denotes |
between |
| T9722 |
18710-18713 |
CD |
denotes |
two |
| T9723 |
18721-18725 |
NNS |
denotes |
mice |
| T9724 |
18714-18720 |
JJ |
denotes |
female |
| T9725 |
18726-18738 |
JJ |
denotes |
heterozygous |
| T9726 |
18739-18742 |
IN |
denotes |
for |
| T9727 |
18743-18746 |
DT |
denotes |
the |
| T9728 |
18755-18763 |
NN |
denotes |
mutation |
| T9729 |
18747-18754 |
JJ |
denotes |
current |
| T9730 |
18764-18765 |
-LRB- |
denotes |
( |
| T9731 |
18773-18776 |
NN |
denotes |
Δ18 |
| T9732 |
18765-18772 |
NN |
denotes |
Itpr1wt |
| T9733 |
18772-18773 |
HYPH |
denotes |
/ |
| T9734 |
18776-18777 |
-RRB- |
denotes |
) |
| T9735 |
18778-18781 |
CC |
denotes |
and |
| T9736 |
18782-18783 |
DT |
denotes |
a |
| T9737 |
18789-18794 |
NN |
denotes |
mouse |
| T9738 |
18784-18788 |
JJ |
denotes |
male |
| T9739 |
18795-18807 |
JJ |
denotes |
heterozygous |
| T9740 |
18808-18811 |
IN |
denotes |
for |
| T9741 |
18812-18815 |
DT |
denotes |
the |
| T9742 |
18825-18833 |
NN |
denotes |
mutation |
| T9743 |
18816-18824 |
NN |
denotes |
Itpr1opt |
| T9744 |
18834-18835 |
-LRB- |
denotes |
( |
| T9745 |
18843-18846 |
NN |
denotes |
opt |
| T9746 |
18835-18842 |
NN |
denotes |
Itpr1wt |
| T9747 |
18842-18843 |
HYPH |
denotes |
/ |
| T9748 |
18846-18847 |
-RRB- |
denotes |
) |
| T9749 |
18847-18848 |
. |
denotes |
. |
| T9750 |
18848-19112 |
sentence |
denotes |
This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15; two of seven from first mating; two of eight from the second mating) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice. |
| T9751 |
18849-18853 |
DT |
denotes |
This |
| T9752 |
18854-18862 |
VBD |
denotes |
resulted |
| T9753 |
18863-18865 |
IN |
denotes |
in |
| T9754 |
18866-18869 |
CD |
denotes |
two |
| T9755 |
18870-18877 |
NNS |
denotes |
litters |
| T9756 |
18878-18880 |
IN |
denotes |
of |
| T9757 |
18881-18885 |
NNS |
denotes |
mice |
| T9758 |
18886-18890 |
IN |
denotes |
with |
| T9759 |
18891-18892 |
DT |
denotes |
a |
| T9760 |
18893-18898 |
NN |
denotes |
total |
| T9761 |
18899-18901 |
IN |
denotes |
of |
| T9762 |
18902-18906 |
CD |
denotes |
four |
| T9763 |
18929-18933 |
NNS |
denotes |
pups |
| T9764 |
18907-18915 |
VBN |
denotes |
affected |
| T9765 |
18916-18924 |
NN |
denotes |
Itpr1opt |
| T9766 |
18925-18928 |
NN |
denotes |
Δ18 |
| T9767 |
18924-18925 |
HYPH |
denotes |
/ |
| T9768 |
18934-18935 |
-LRB- |
denotes |
( |
| T9769 |
18994-18999 |
CD |
denotes |
eight |
| T9770 |
18935-18939 |
IN |
denotes |
from |
| T9771 |
18940-18941 |
DT |
denotes |
a |
| T9772 |
18942-18947 |
NN |
denotes |
total |
| T9773 |
18948-18950 |
IN |
denotes |
of |
| T9774 |
18951-18953 |
CD |
denotes |
15 |
| T9775 |
18953-18954 |
: |
denotes |
; |
| T9776 |
18955-18958 |
CD |
denotes |
two |
| T9777 |
18962-18967 |
CD |
denotes |
seven |
| T9778 |
18959-18961 |
IN |
denotes |
of |
| T9779 |
18968-18972 |
IN |
denotes |
from |
| T9780 |
18973-18978 |
JJ |
denotes |
first |
| T9781 |
18979-18985 |
NN |
denotes |
mating |
| T9782 |
18985-18986 |
: |
denotes |
; |
| T9783 |
18987-18990 |
CD |
denotes |
two |
| T9784 |
18991-18993 |
IN |
denotes |
of |
| T9785 |
19000-19004 |
IN |
denotes |
from |
| T9786 |
19005-19008 |
DT |
denotes |
the |
| T9787 |
19016-19022 |
NN |
denotes |
mating |
| T9788 |
19009-19015 |
JJ |
denotes |
second |
| T9789 |
19022-19023 |
-RRB- |
denotes |
) |
| T9790 |
19024-19028 |
IN |
denotes |
with |
| T9791 |
19029-19030 |
DT |
denotes |
a |
| T9792 |
19031-19040 |
NN |
denotes |
phenotype |
| T9793 |
19041-19058 |
JJ |
denotes |
indistinguishable |
| T9794 |
19059-19063 |
IN |
denotes |
from |
| T9795 |
19064-19068 |
DT |
denotes |
that |
| T9796 |
19069-19071 |
IN |
denotes |
of |
| T9797 |
19072-19075 |
DT |
denotes |
the |
| T9798 |
19107-19111 |
NNS |
denotes |
mice |
| T9799 |
19076-19084 |
NN |
denotes |
Itpr1Δ18 |
| T9800 |
19085-19088 |
NN |
denotes |
Δ18 |
| T9801 |
19084-19085 |
HYPH |
denotes |
/ |
| T9802 |
19089-19092 |
CC |
denotes |
and |
| T9803 |
19093-19101 |
NN |
denotes |
Itpr1opt |
| T9804 |
19103-19106 |
NN |
denotes |
opt |
| T9805 |
19102-19103 |
HYPH |
denotes |
/ |
| T9806 |
19111-19112 |
. |
denotes |
. |
| T10116 |
19114-19122 |
NN |
denotes |
Analysis |
| T10117 |
19123-19125 |
IN |
denotes |
of |
| T10118 |
19126-19131 |
NN |
denotes |
Itpr1 |
| T10119 |
19132-19139 |
NN |
denotes |
protein |
| T10120 |
19140-19142 |
IN |
denotes |
in |
| T10121 |
19143-19147 |
NNS |
denotes |
mice |
| T10122 |
19147-19148 |
. |
denotes |
. |
| T10123 |
19148-19270 |
sentence |
denotes |
We performed Western blot analyses using standard techniques with ECL detection kits (Amersham, http://www.amersham.com). |
| T10124 |
19149-19151 |
PRP |
denotes |
We |
| T10125 |
19152-19161 |
VBD |
denotes |
performed |
| T10126 |
19162-19169 |
NNP |
denotes |
Western |
| T10127 |
19170-19174 |
NN |
denotes |
blot |
| T10128 |
19175-19183 |
NNS |
denotes |
analyses |
| T10129 |
19184-19189 |
VBG |
denotes |
using |
| T10130 |
19190-19198 |
JJ |
denotes |
standard |
| T10131 |
19199-19209 |
NNS |
denotes |
techniques |
| T10132 |
19210-19214 |
IN |
denotes |
with |
| T10133 |
19215-19218 |
NN |
denotes |
ECL |
| T10134 |
19229-19233 |
NNS |
denotes |
kits |
| T10135 |
19219-19228 |
NN |
denotes |
detection |
| T10136 |
19234-19235 |
-LRB- |
denotes |
( |
| T10137 |
19235-19243 |
NNP |
denotes |
Amersham |
| T10138 |
19243-19245 |
, |
denotes |
, |
| T10139 |
19245-19268 |
NN |
denotes |
http://www.amersham.com |
| T10140 |
19268-19269 |
-RRB- |
denotes |
) |
| T10141 |
19269-19270 |
. |
denotes |
. |
| T10142 |
19270-19536 |
sentence |
denotes |
Briefly, dissected whole brains from postnatal day 21 littermates were homogenized in a buffer containing 50 mM Tris-HCl, 150 mM NaCl, 1 mM EDTA, 1% Triton X-100, 1% sodium deoxycholate, 0.1% SDS, and a cocktail of protease inhibitors (Roche, http://www.roche.com). |
| T10143 |
19271-19278 |
RB |
denotes |
Briefly |
| T10144 |
19342-19353 |
VBN |
denotes |
homogenized |
| T10145 |
19278-19280 |
, |
denotes |
, |
| T10146 |
19280-19289 |
VBN |
denotes |
dissected |
| T10147 |
19296-19302 |
NNS |
denotes |
brains |
| T10148 |
19290-19295 |
JJ |
denotes |
whole |
| T10149 |
19303-19307 |
IN |
denotes |
from |
| T10150 |
19308-19317 |
JJ |
denotes |
postnatal |
| T10151 |
19318-19321 |
NN |
denotes |
day |
| T10152 |
19325-19336 |
NNS |
denotes |
littermates |
| T10153 |
19322-19324 |
CD |
denotes |
21 |
| T10154 |
19337-19341 |
VBD |
denotes |
were |
| T10155 |
19354-19356 |
IN |
denotes |
in |
| T10156 |
19357-19358 |
DT |
denotes |
a |
| T10157 |
19359-19365 |
NN |
denotes |
buffer |
| T10158 |
19366-19376 |
VBG |
denotes |
containing |
| T10159 |
19377-19379 |
CD |
denotes |
50 |
| T10160 |
19380-19382 |
NN |
denotes |
mM |
| T10161 |
19388-19391 |
NN |
denotes |
HCl |
| T10162 |
19383-19387 |
NN |
denotes |
Tris |
| T10163 |
19387-19388 |
HYPH |
denotes |
- |
| T10164 |
19391-19393 |
, |
denotes |
, |
| T10165 |
19393-19396 |
CD |
denotes |
150 |
| T10166 |
19397-19399 |
NN |
denotes |
mM |
| T10167 |
19400-19404 |
NN |
denotes |
NaCl |
| T10168 |
19404-19406 |
, |
denotes |
, |
| T10169 |
19406-19407 |
CD |
denotes |
1 |
| T10170 |
19408-19410 |
NN |
denotes |
mM |
| T10171 |
19411-19415 |
NN |
denotes |
EDTA |
| T10172 |
19415-19417 |
, |
denotes |
, |
| T10173 |
19417-19418 |
CD |
denotes |
1 |
| T10174 |
19418-19419 |
NN |
denotes |
% |
| T10175 |
19427-19428 |
NN |
denotes |
X |
| T10176 |
19420-19426 |
NN |
denotes |
Triton |
| T10177 |
19428-19429 |
HYPH |
denotes |
- |
| T10178 |
19429-19432 |
CD |
denotes |
100 |
| T10179 |
19432-19434 |
, |
denotes |
, |
| T10180 |
19434-19435 |
CD |
denotes |
1 |
| T10181 |
19435-19436 |
NN |
denotes |
% |
| T10182 |
19444-19456 |
NN |
denotes |
deoxycholate |
| T10183 |
19437-19443 |
NN |
denotes |
sodium |
| T10184 |
19456-19458 |
, |
denotes |
, |
| T10185 |
19458-19461 |
CD |
denotes |
0.1 |
| T10186 |
19461-19462 |
NN |
denotes |
% |
| T10187 |
19463-19466 |
NN |
denotes |
SDS |
| T10188 |
19466-19468 |
, |
denotes |
, |
| T10189 |
19468-19471 |
CC |
denotes |
and |
| T10190 |
19472-19473 |
DT |
denotes |
a |
| T10191 |
19474-19482 |
NN |
denotes |
cocktail |
| T10192 |
19483-19485 |
IN |
denotes |
of |
| T10193 |
19486-19494 |
NN |
denotes |
protease |
| T10194 |
19495-19505 |
NNS |
denotes |
inhibitors |
| T10195 |
19506-19507 |
-LRB- |
denotes |
( |
| T10196 |
19507-19512 |
NNP |
denotes |
Roche |
| T10197 |
19512-19514 |
, |
denotes |
, |
| T10198 |
19514-19534 |
NN |
denotes |
http://www.roche.com |
| T10199 |
19534-19535 |
-RRB- |
denotes |
) |
| T10200 |
19535-19536 |
. |
denotes |
. |
| T10201 |
19536-19727 |
sentence |
denotes |
Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (Novex, http://www.invitrogen.com) for SDS-PAGE and immunoblotting. |
| T10202 |
19537-19548 |
NNS |
denotes |
Homogenates |
| T10203 |
19554-19561 |
VBN |
denotes |
diluted |
| T10204 |
19549-19553 |
VBD |
denotes |
were |
| T10205 |
19562-19575 |
RB |
denotes |
appropriately |
| T10206 |
19575-19577 |
, |
denotes |
, |
| T10207 |
19577-19582 |
VBN |
denotes |
mixed |
| T10208 |
19583-19587 |
IN |
denotes |
with |
| T10209 |
19588-19589 |
CD |
denotes |
4 |
| T10210 |
19607-19613 |
NN |
denotes |
buffer |
| T10211 |
19589-19590 |
SYM |
denotes |
× |
| T10212 |
19591-19599 |
VBG |
denotes |
reducing |
| T10213 |
19600-19606 |
NN |
denotes |
sample |
| T10214 |
19613-19615 |
, |
denotes |
, |
| T10215 |
19615-19618 |
CC |
denotes |
and |
| T10216 |
19619-19625 |
VBN |
denotes |
loaded |
| T10217 |
19626-19630 |
IN |
denotes |
onto |
| T10218 |
19631-19632 |
CD |
denotes |
4 |
| T10219 |
19632-19633 |
NN |
denotes |
% |
| T10220 |
19655-19659 |
NNS |
denotes |
gels |
| T10221 |
19633-19634 |
SYM |
denotes |
– |
| T10222 |
19636-19637 |
NN |
denotes |
% |
| T10223 |
19634-19636 |
CD |
denotes |
12 |
| T10224 |
19638-19645 |
NN |
denotes |
precast |
| T10225 |
19646-19654 |
NN |
denotes |
gradient |
| T10226 |
19660-19661 |
-LRB- |
denotes |
( |
| T10227 |
19661-19666 |
NNP |
denotes |
Novex |
| T10228 |
19666-19668 |
, |
denotes |
, |
| T10229 |
19668-19693 |
NN |
denotes |
http://www.invitrogen.com |
| T10230 |
19693-19694 |
-RRB- |
denotes |
) |
| T10231 |
19695-19698 |
IN |
denotes |
for |
| T10232 |
19699-19702 |
NN |
denotes |
SDS |
| T10233 |
19703-19707 |
NN |
denotes |
PAGE |
| T10234 |
19702-19703 |
HYPH |
denotes |
- |
| T10235 |
19708-19711 |
CC |
denotes |
and |
| T10236 |
19712-19726 |
NN |
denotes |
immunoblotting |
| T10237 |
19726-19727 |
. |
denotes |
. |
| T10238 |
19727-19823 |
sentence |
denotes |
The antibodies to Itpr1 (1:2,000) and Actb (1:5,000) were used as recommended by manufacturers. |
| T10239 |
19728-19731 |
DT |
denotes |
The |
| T10240 |
19732-19742 |
NNS |
denotes |
antibodies |
| T10241 |
19786-19790 |
VBN |
denotes |
used |
| T10242 |
19743-19745 |
IN |
denotes |
to |
| T10243 |
19746-19751 |
NN |
denotes |
Itpr1 |
| T10244 |
19752-19753 |
-LRB- |
denotes |
( |
| T10245 |
19753-19754 |
CD |
denotes |
1 |
| T10246 |
19754-19755 |
SYM |
denotes |
: |
| T10247 |
19755-19760 |
CD |
denotes |
2,000 |
| T10248 |
19760-19761 |
-RRB- |
denotes |
) |
| T10249 |
19762-19765 |
CC |
denotes |
and |
| T10250 |
19766-19770 |
NN |
denotes |
Actb |
| T10251 |
19771-19772 |
-LRB- |
denotes |
( |
| T10252 |
19772-19773 |
CD |
denotes |
1 |
| T10253 |
19773-19774 |
SYM |
denotes |
: |
| T10254 |
19774-19779 |
CD |
denotes |
5,000 |
| T10255 |
19779-19780 |
-RRB- |
denotes |
) |
| T10256 |
19781-19785 |
VBD |
denotes |
were |
| T10257 |
19791-19793 |
IN |
denotes |
as |
| T10258 |
19794-19805 |
VBN |
denotes |
recommended |
| T10259 |
19806-19808 |
IN |
denotes |
by |
| T10260 |
19809-19822 |
NNS |
denotes |
manufacturers |
| T10261 |
19822-19823 |
. |
denotes |
. |
| T10935 |
19825-19845 |
NN |
denotes |
Immunohistochemistry |
| T10936 |
19845-19846 |
. |
denotes |
. |
| T10937 |
19846-19976 |
sentence |
denotes |
Brains were isolated from 21-d-old mice, perfused with 4% paraformaldehyde in PBS, and post-fixed overnight in the same fixative. |
| T10938 |
19847-19853 |
NNS |
denotes |
Brains |
| T10939 |
19859-19867 |
VBN |
denotes |
isolated |
| T10940 |
19854-19858 |
VBD |
denotes |
were |
| T10941 |
19868-19872 |
IN |
denotes |
from |
| T10942 |
19873-19875 |
CD |
denotes |
21 |
| T10943 |
19876-19877 |
NN |
denotes |
d |
| T10944 |
19875-19876 |
HYPH |
denotes |
- |
| T10945 |
19878-19881 |
JJ |
denotes |
old |
| T10946 |
19877-19878 |
HYPH |
denotes |
- |
| T10947 |
19882-19886 |
NNS |
denotes |
mice |
| T10948 |
19886-19888 |
, |
denotes |
, |
| T10949 |
19888-19896 |
VBN |
denotes |
perfused |
| T10950 |
19897-19901 |
IN |
denotes |
with |
| T10951 |
19902-19903 |
CD |
denotes |
4 |
| T10952 |
19903-19904 |
NN |
denotes |
% |
| T10953 |
19905-19921 |
NN |
denotes |
paraformaldehyde |
| T10954 |
19922-19924 |
IN |
denotes |
in |
| T10955 |
19925-19928 |
NN |
denotes |
PBS |
| T10956 |
19928-19930 |
, |
denotes |
, |
| T10957 |
19930-19933 |
CC |
denotes |
and |
| T10958 |
19934-19944 |
VBN |
denotes |
post-fixed |
| T10959 |
19945-19954 |
RB |
denotes |
overnight |
| T10960 |
19955-19957 |
IN |
denotes |
in |
| T10961 |
19958-19961 |
DT |
denotes |
the |
| T10962 |
19967-19975 |
NN |
denotes |
fixative |
| T10963 |
19962-19966 |
JJ |
denotes |
same |
| T10964 |
19975-19976 |
. |
denotes |
. |
| T10965 |
19976-20138 |
sentence |
denotes |
Brains were embedded in gelatin, and 35-μm sagittal sections were cut using a sliding microtome (NeuroScience Associates, http://www.neuroscienceassociates.com). |
| T10966 |
19977-19983 |
NNS |
denotes |
Brains |
| T10967 |
19989-19997 |
VBN |
denotes |
embedded |
| T10968 |
19984-19988 |
VBD |
denotes |
were |
| T10969 |
19998-20000 |
IN |
denotes |
in |
| T10970 |
20001-20008 |
NN |
denotes |
gelatin |
| T10971 |
20008-20010 |
, |
denotes |
, |
| T10972 |
20010-20013 |
CC |
denotes |
and |
| T10973 |
20014-20016 |
CD |
denotes |
35 |
| T10974 |
20017-20019 |
NN |
denotes |
μm |
| T10975 |
20016-20017 |
HYPH |
denotes |
- |
| T10976 |
20029-20037 |
NNS |
denotes |
sections |
| T10977 |
20020-20028 |
JJ |
denotes |
sagittal |
| T10978 |
20043-20046 |
VBN |
denotes |
cut |
| T10979 |
20038-20042 |
VBD |
denotes |
were |
| T10980 |
20047-20052 |
VBG |
denotes |
using |
| T10981 |
20053-20054 |
DT |
denotes |
a |
| T10982 |
20063-20072 |
NN |
denotes |
microtome |
| T10983 |
20055-20062 |
VBG |
denotes |
sliding |
| T10984 |
20073-20074 |
-LRB- |
denotes |
( |
| T10985 |
20087-20097 |
NNP |
denotes |
Associates |
| T10986 |
20074-20086 |
NNP |
denotes |
NeuroScience |
| T10987 |
20097-20099 |
, |
denotes |
, |
| T10988 |
20099-20136 |
NN |
denotes |
http://www.neuroscienceassociates.com |
| T10989 |
20136-20137 |
-RRB- |
denotes |
) |
| T10990 |
20137-20138 |
. |
denotes |
. |
| T10991 |
20138-20239 |
sentence |
denotes |
Sections from wild-type, heterozygote, and homozygous brains were placed in the MultiBrain template. |
| T10992 |
20139-20147 |
NNS |
denotes |
Sections |
| T10993 |
20205-20211 |
VBN |
denotes |
placed |
| T10994 |
20148-20152 |
IN |
denotes |
from |
| T10995 |
20153-20157 |
JJ |
denotes |
wild |
| T10996 |
20158-20162 |
NN |
denotes |
type |
| T10997 |
20157-20158 |
HYPH |
denotes |
- |
| T10998 |
20193-20199 |
NNS |
denotes |
brains |
| T10999 |
20162-20164 |
, |
denotes |
, |
| T11000 |
20164-20176 |
NN |
denotes |
heterozygote |
| T11001 |
20176-20178 |
, |
denotes |
, |
| T11002 |
20178-20181 |
CC |
denotes |
and |
| T11003 |
20182-20192 |
JJ |
denotes |
homozygous |
| T11004 |
20200-20204 |
VBD |
denotes |
were |
| T11005 |
20212-20214 |
IN |
denotes |
in |
| T11006 |
20215-20218 |
DT |
denotes |
the |
| T11007 |
20230-20238 |
NN |
denotes |
template |
| T11008 |
20219-20229 |
NN |
denotes |
MultiBrain |
| T11009 |
20238-20239 |
. |
denotes |
. |
| T11010 |
20239-20392 |
sentence |
denotes |
Sections were washed in 1× PBS prior to 1 h of incubation in block solution containing 1× PBS with 20% normal goat serum and 0.3% Triton X-100 (pH 7.4). |
| T11011 |
20240-20248 |
NNS |
denotes |
Sections |
| T11012 |
20254-20260 |
VBN |
denotes |
washed |
| T11013 |
20249-20253 |
VBD |
denotes |
were |
| T11014 |
20261-20263 |
IN |
denotes |
in |
| T11015 |
20264-20265 |
CD |
denotes |
1 |
| T11016 |
20267-20270 |
NN |
denotes |
PBS |
| T11017 |
20265-20266 |
SYM |
denotes |
× |
| T11018 |
20271-20276 |
RB |
denotes |
prior |
| T11019 |
20277-20279 |
IN |
denotes |
to |
| T11020 |
20280-20281 |
CD |
denotes |
1 |
| T11021 |
20282-20283 |
NN |
denotes |
h |
| T11022 |
20284-20286 |
IN |
denotes |
of |
| T11023 |
20287-20297 |
NN |
denotes |
incubation |
| T11024 |
20298-20300 |
IN |
denotes |
in |
| T11025 |
20301-20306 |
NN |
denotes |
block |
| T11026 |
20307-20315 |
NN |
denotes |
solution |
| T11027 |
20316-20326 |
VBG |
denotes |
containing |
| T11028 |
20327-20328 |
CD |
denotes |
1 |
| T11029 |
20330-20333 |
NN |
denotes |
PBS |
| T11030 |
20328-20329 |
SYM |
denotes |
× |
| T11031 |
20334-20338 |
IN |
denotes |
with |
| T11032 |
20339-20341 |
CD |
denotes |
20 |
| T11033 |
20341-20342 |
NN |
denotes |
% |
| T11034 |
20355-20360 |
NN |
denotes |
serum |
| T11035 |
20343-20349 |
JJ |
denotes |
normal |
| T11036 |
20350-20354 |
NN |
denotes |
goat |
| T11037 |
20361-20364 |
CC |
denotes |
and |
| T11038 |
20365-20368 |
CD |
denotes |
0.3 |
| T11039 |
20368-20369 |
NN |
denotes |
% |
| T11040 |
20377-20378 |
NN |
denotes |
X |
| T11041 |
20370-20376 |
NN |
denotes |
Triton |
| T11042 |
20378-20379 |
HYPH |
denotes |
- |
| T11043 |
20379-20382 |
CD |
denotes |
100 |
| T11044 |
20383-20384 |
-LRB- |
denotes |
( |
| T11045 |
20384-20386 |
NN |
denotes |
pH |
| T11046 |
20387-20390 |
CD |
denotes |
7.4 |
| T11047 |
20390-20391 |
-RRB- |
denotes |
) |
| T11048 |
20391-20392 |
. |
denotes |
. |
| T11049 |
20392-20678 |
sentence |
denotes |
Sections were incubated overnight at 4 °C in primary antibodies: affinity purified polyclonal Itpr1 antibody (1:2,000, Chemicon International, http://www.chemicon.com) and monoclonal anti-Calb1 antibody (1:6,000, Sigma-Aldrich, http://www.sigmaaldrich.com) diluted in carrier solution. |
| T11050 |
20393-20401 |
NNS |
denotes |
Sections |
| T11051 |
20407-20416 |
VBN |
denotes |
incubated |
| T11052 |
20402-20406 |
VBD |
denotes |
were |
| T11053 |
20417-20426 |
RB |
denotes |
overnight |
| T11054 |
20427-20429 |
IN |
denotes |
at |
| T11055 |
20430-20431 |
CD |
denotes |
4 |
| T11056 |
20432-20434 |
NN |
denotes |
°C |
| T11057 |
20435-20437 |
IN |
denotes |
in |
| T11058 |
20438-20445 |
JJ |
denotes |
primary |
| T11059 |
20446-20456 |
NNS |
denotes |
antibodies |
| T11060 |
20456-20458 |
: |
denotes |
: |
| T11061 |
20458-20466 |
NN |
denotes |
affinity |
| T11062 |
20493-20501 |
NN |
denotes |
antibody |
| T11063 |
20467-20475 |
VBN |
denotes |
purified |
| T11064 |
20476-20486 |
JJ |
denotes |
polyclonal |
| T11065 |
20487-20492 |
NN |
denotes |
Itpr1 |
| T11066 |
20502-20503 |
-LRB- |
denotes |
( |
| T11067 |
20521-20534 |
NNP |
denotes |
International |
| T11068 |
20503-20504 |
CD |
denotes |
1 |
| T11069 |
20504-20505 |
SYM |
denotes |
: |
| T11070 |
20505-20510 |
CD |
denotes |
2,000 |
| T11071 |
20510-20512 |
, |
denotes |
, |
| T11072 |
20512-20520 |
NNP |
denotes |
Chemicon |
| T11073 |
20534-20536 |
, |
denotes |
, |
| T11074 |
20536-20559 |
NN |
denotes |
http://www.chemicon.com |
| T11075 |
20559-20560 |
-RRB- |
denotes |
) |
| T11076 |
20561-20564 |
CC |
denotes |
and |
| T11077 |
20565-20575 |
JJ |
denotes |
monoclonal |
| T11078 |
20587-20595 |
NN |
denotes |
antibody |
| T11079 |
20576-20586 |
JJ |
denotes |
anti-Calb1 |
| T11080 |
20596-20597 |
-LRB- |
denotes |
( |
| T11081 |
20612-20619 |
NNP |
denotes |
Aldrich |
| T11082 |
20597-20598 |
CD |
denotes |
1 |
| T11083 |
20598-20599 |
SYM |
denotes |
: |
| T11084 |
20599-20604 |
CD |
denotes |
6,000 |
| T11085 |
20604-20606 |
, |
denotes |
, |
| T11086 |
20606-20611 |
NNP |
denotes |
Sigma |
| T11087 |
20611-20612 |
HYPH |
denotes |
- |
| T11088 |
20619-20621 |
, |
denotes |
, |
| T11089 |
20621-20648 |
NN |
denotes |
http://www.sigmaaldrich.com |
| T11090 |
20648-20649 |
-RRB- |
denotes |
) |
| T11091 |
20650-20657 |
VBN |
denotes |
diluted |
| T11092 |
20658-20660 |
IN |
denotes |
in |
| T11093 |
20661-20668 |
NN |
denotes |
carrier |
| T11094 |
20669-20677 |
NN |
denotes |
solution |
| T11095 |
20677-20678 |
. |
denotes |
. |
| T11096 |
20678-20948 |
sentence |
denotes |
Following extensive washes (in 6.0 ml of PBS, three times), sections were incubated with appropriate secondary antibodies (Alexa Fluor 555 goat anti-rabbit IgG and Alexa Fluor 488 goat anti-mouse IgG [Invitrogen, http://www.invitrogen.com]) for 1 h at room temperature. |
| T11097 |
20679-20688 |
VBG |
denotes |
Following |
| T11098 |
20753-20762 |
VBN |
denotes |
incubated |
| T11099 |
20689-20698 |
JJ |
denotes |
extensive |
| T11100 |
20699-20705 |
NNS |
denotes |
washes |
| T11101 |
20706-20707 |
-LRB- |
denotes |
( |
| T11102 |
20707-20709 |
IN |
denotes |
in |
| T11103 |
20710-20713 |
CD |
denotes |
6.0 |
| T11104 |
20714-20716 |
NN |
denotes |
ml |
| T11105 |
20717-20719 |
IN |
denotes |
of |
| T11106 |
20720-20723 |
NN |
denotes |
PBS |
| T11107 |
20723-20725 |
, |
denotes |
, |
| T11108 |
20731-20736 |
NNS |
denotes |
times |
| T11109 |
20725-20730 |
CD |
denotes |
three |
| T11110 |
20736-20737 |
-RRB- |
denotes |
) |
| T11111 |
20737-20739 |
, |
denotes |
, |
| T11112 |
20739-20747 |
NNS |
denotes |
sections |
| T11113 |
20748-20752 |
VBD |
denotes |
were |
| T11114 |
20763-20767 |
IN |
denotes |
with |
| T11115 |
20768-20779 |
JJ |
denotes |
appropriate |
| T11116 |
20790-20800 |
NNS |
denotes |
antibodies |
| T11117 |
20780-20789 |
JJ |
denotes |
secondary |
| T11118 |
20801-20802 |
-LRB- |
denotes |
( |
| T11119 |
20835-20838 |
NN |
denotes |
IgG |
| T11120 |
20802-20807 |
NNP |
denotes |
Alexa |
| T11121 |
20808-20813 |
NNP |
denotes |
Fluor |
| T11122 |
20814-20817 |
CD |
denotes |
555 |
| T11123 |
20818-20822 |
NN |
denotes |
goat |
| T11124 |
20823-20834 |
JJ |
denotes |
anti-rabbit |
| T11125 |
20839-20842 |
CC |
denotes |
and |
| T11126 |
20843-20848 |
NNP |
denotes |
Alexa |
| T11127 |
20849-20854 |
NNP |
denotes |
Fluor |
| T11128 |
20875-20878 |
NN |
denotes |
IgG |
| T11129 |
20855-20858 |
CD |
denotes |
488 |
| T11130 |
20859-20863 |
NN |
denotes |
goat |
| T11131 |
20864-20874 |
JJ |
denotes |
anti-mouse |
| T11132 |
20879-20880 |
-LRB- |
denotes |
[ |
| T11133 |
20880-20890 |
NNP |
denotes |
Invitrogen |
| T11134 |
20890-20892 |
, |
denotes |
, |
| T11135 |
20892-20917 |
NN |
denotes |
http://www.invitrogen.com |
| T11136 |
20917-20918 |
-RRB- |
denotes |
] |
| T11137 |
20918-20919 |
-RRB- |
denotes |
) |
| T11138 |
20920-20923 |
IN |
denotes |
for |
| T11139 |
20924-20925 |
CD |
denotes |
1 |
| T11140 |
20926-20927 |
NN |
denotes |
h |
| T11141 |
20928-20930 |
IN |
denotes |
at |
| T11142 |
20931-20935 |
NN |
denotes |
room |
| T11143 |
20936-20947 |
NN |
denotes |
temperature |
| T11144 |
20947-20948 |
. |
denotes |
. |
| T11145 |
20948-21107 |
sentence |
denotes |
Sections were washed and mounted on glass slides in a buffered medium containing Mowiol (Calbiochem, http://www.emdbiosciences.com) as described earlier [14]. |
| T11146 |
20949-20957 |
NNS |
denotes |
Sections |
| T11147 |
20963-20969 |
VBN |
denotes |
washed |
| T11148 |
20958-20962 |
VBD |
denotes |
were |
| T11149 |
20970-20973 |
CC |
denotes |
and |
| T11150 |
20974-20981 |
VBN |
denotes |
mounted |
| T11151 |
20982-20984 |
IN |
denotes |
on |
| T11152 |
20985-20990 |
NN |
denotes |
glass |
| T11153 |
20991-20997 |
NNS |
denotes |
slides |
| T11154 |
20998-21000 |
IN |
denotes |
in |
| T11155 |
21001-21002 |
DT |
denotes |
a |
| T11156 |
21012-21018 |
NN |
denotes |
medium |
| T11157 |
21003-21011 |
VBN |
denotes |
buffered |
| T11158 |
21019-21029 |
VBG |
denotes |
containing |
| T11159 |
21030-21036 |
NN |
denotes |
Mowiol |
| T11160 |
21037-21038 |
-LRB- |
denotes |
( |
| T11161 |
21038-21048 |
NNP |
denotes |
Calbiochem |
| T11162 |
21048-21050 |
, |
denotes |
, |
| T11163 |
21050-21079 |
NN |
denotes |
http://www.emdbiosciences.com |
| T11164 |
21079-21080 |
-RRB- |
denotes |
) |
| T11165 |
21081-21083 |
IN |
denotes |
as |
| T11166 |
21084-21093 |
VBN |
denotes |
described |
| T11167 |
21094-21101 |
RBR |
denotes |
earlier |
| T11168 |
21102-21103 |
-LRB- |
denotes |
[ |
| T11169 |
21103-21105 |
CD |
denotes |
14 |
| T11170 |
21105-21106 |
-RRB- |
denotes |
] |
| T11171 |
21106-21107 |
. |
denotes |
. |
| T11172 |
21107-21211 |
sentence |
denotes |
Sections were imaged using a laser scanning confocal microscope (LSM 510; Zeiss, http://www.zeiss.com). |
| T11173 |
21108-21116 |
NNS |
denotes |
Sections |
| T11174 |
21122-21128 |
VBN |
denotes |
imaged |
| T11175 |
21117-21121 |
VBD |
denotes |
were |
| T11176 |
21129-21134 |
VBG |
denotes |
using |
| T11177 |
21135-21136 |
DT |
denotes |
a |
| T11178 |
21161-21171 |
NN |
denotes |
microscope |
| T11179 |
21137-21142 |
NN |
denotes |
laser |
| T11180 |
21143-21151 |
VBG |
denotes |
scanning |
| T11181 |
21152-21160 |
JJ |
denotes |
confocal |
| T11182 |
21172-21173 |
-LRB- |
denotes |
( |
| T11183 |
21182-21187 |
NNP |
denotes |
Zeiss |
| T11184 |
21173-21176 |
NN |
denotes |
LSM |
| T11185 |
21177-21180 |
CD |
denotes |
510 |
| T11186 |
21180-21181 |
: |
denotes |
; |
| T11187 |
21187-21189 |
, |
denotes |
, |
| T11188 |
21189-21209 |
NN |
denotes |
http://www.zeiss.com |
| T11189 |
21209-21210 |
-RRB- |
denotes |
) |
| T11190 |
21210-21211 |
. |
denotes |
. |
| T11191 |
21211-21370 |
sentence |
denotes |
Imaging parameters (pinhole, detector gain, laser power) were optimized, and were kept constant for the wild-type, heterozygous, and homozygous mutant brains. |
| T11192 |
21212-21219 |
NN |
denotes |
Imaging |
| T11193 |
21220-21230 |
NNS |
denotes |
parameters |
| T11194 |
21274-21283 |
VBN |
denotes |
optimized |
| T11195 |
21231-21232 |
-LRB- |
denotes |
( |
| T11196 |
21232-21239 |
NN |
denotes |
pinhole |
| T11197 |
21239-21241 |
, |
denotes |
, |
| T11198 |
21241-21249 |
NN |
denotes |
detector |
| T11199 |
21250-21254 |
NN |
denotes |
gain |
| T11200 |
21254-21256 |
, |
denotes |
, |
| T11201 |
21256-21261 |
NN |
denotes |
laser |
| T11202 |
21262-21267 |
NN |
denotes |
power |
| T11203 |
21267-21268 |
-RRB- |
denotes |
) |
| T11204 |
21269-21273 |
VBD |
denotes |
were |
| T11205 |
21283-21285 |
, |
denotes |
, |
| T11206 |
21285-21288 |
CC |
denotes |
and |
| T11207 |
21289-21293 |
VBD |
denotes |
were |
| T11208 |
21294-21298 |
VBN |
denotes |
kept |
| T11209 |
21299-21307 |
JJ |
denotes |
constant |
| T11210 |
21308-21311 |
IN |
denotes |
for |
| T11211 |
21312-21315 |
DT |
denotes |
the |
| T11212 |
21363-21369 |
NNS |
denotes |
brains |
| T11213 |
21316-21320 |
JJ |
denotes |
wild |
| T11214 |
21321-21325 |
NN |
denotes |
type |
| T11215 |
21320-21321 |
HYPH |
denotes |
- |
| T11216 |
21325-21327 |
, |
denotes |
, |
| T11217 |
21327-21339 |
JJ |
denotes |
heterozygous |
| T11218 |
21339-21341 |
, |
denotes |
, |
| T11219 |
21341-21344 |
CC |
denotes |
and |
| T11220 |
21345-21355 |
JJ |
denotes |
homozygous |
| T11221 |
21356-21362 |
NN |
denotes |
mutant |
| T11222 |
21369-21370 |
. |
denotes |
. |
| T11223 |
21370-21457 |
sentence |
denotes |
Specificity of the Itpr1 antibodies was verified by preabsorption control experiments. |
| T11224 |
21371-21382 |
NN |
denotes |
Specificity |
| T11225 |
21411-21419 |
VBN |
denotes |
verified |
| T11226 |
21383-21385 |
IN |
denotes |
of |
| T11227 |
21386-21389 |
DT |
denotes |
the |
| T11228 |
21396-21406 |
NNS |
denotes |
antibodies |
| T11229 |
21390-21395 |
NN |
denotes |
Itpr1 |
| T11230 |
21407-21410 |
VBD |
denotes |
was |
| T11231 |
21420-21422 |
IN |
denotes |
by |
| T11232 |
21423-21436 |
NN |
denotes |
preabsorption |
| T11233 |
21445-21456 |
NNS |
denotes |
experiments |
| T11234 |
21437-21444 |
NN |
denotes |
control |
| T11235 |
21456-21457 |
. |
denotes |
. |
| T11236 |
21457-21537 |
sentence |
denotes |
Antibody dilutions were incubated for 24 h at 4 °C with the immunizing peptide. |
| T11237 |
21458-21466 |
NN |
denotes |
Antibody |
| T11238 |
21467-21476 |
NNS |
denotes |
dilutions |
| T11239 |
21482-21491 |
VBN |
denotes |
incubated |
| T11240 |
21477-21481 |
VBD |
denotes |
were |
| T11241 |
21492-21495 |
IN |
denotes |
for |
| T11242 |
21496-21498 |
CD |
denotes |
24 |
| T11243 |
21499-21500 |
NN |
denotes |
h |
| T11244 |
21501-21503 |
IN |
denotes |
at |
| T11245 |
21504-21505 |
CD |
denotes |
4 |
| T11246 |
21506-21508 |
NN |
denotes |
°C |
| T11247 |
21509-21513 |
IN |
denotes |
with |
| T11248 |
21514-21517 |
DT |
denotes |
the |
| T11249 |
21529-21536 |
NN |
denotes |
peptide |
| T11250 |
21518-21528 |
VBG |
denotes |
immunizing |
| T11251 |
21536-21537 |
. |
denotes |
. |
| T11252 |
21537-21634 |
sentence |
denotes |
Tissue sections were incubated with the preabsorbed antibodies and processed as described above. |
| T11253 |
21538-21544 |
NN |
denotes |
Tissue |
| T11254 |
21545-21553 |
NNS |
denotes |
sections |
| T11255 |
21559-21568 |
VBN |
denotes |
incubated |
| T11256 |
21554-21558 |
VBD |
denotes |
were |
| T11257 |
21569-21573 |
IN |
denotes |
with |
| T11258 |
21574-21577 |
DT |
denotes |
the |
| T11259 |
21590-21600 |
NNS |
denotes |
antibodies |
| T11260 |
21578-21589 |
VBN |
denotes |
preabsorbed |
| T11261 |
21601-21604 |
CC |
denotes |
and |
| T11262 |
21605-21614 |
VBN |
denotes |
processed |
| T11263 |
21615-21617 |
IN |
denotes |
as |
| T11264 |
21618-21627 |
VBN |
denotes |
described |
| T11265 |
21628-21633 |
RB |
denotes |
above |
| T11266 |
21633-21634 |
. |
denotes |
. |
| T11267 |
21634-21707 |
sentence |
denotes |
Under these conditions, no staining above autofluorescence was detected. |
| T11268 |
21635-21640 |
IN |
denotes |
Under |
| T11269 |
21698-21706 |
VBN |
denotes |
detected |
| T11270 |
21641-21646 |
DT |
denotes |
these |
| T11271 |
21647-21657 |
NNS |
denotes |
conditions |
| T11272 |
21657-21659 |
, |
denotes |
, |
| T11273 |
21659-21661 |
DT |
denotes |
no |
| T11274 |
21662-21670 |
NN |
denotes |
staining |
| T11275 |
21671-21676 |
IN |
denotes |
above |
| T11276 |
21677-21693 |
NN |
denotes |
autofluorescence |
| T11277 |
21694-21697 |
VBD |
denotes |
was |
| T11278 |
21706-21707 |
. |
denotes |
. |
| T16337 |
14262-14270 |
NN |
denotes |
antibody |
| T12755 |
21709-21717 |
NN |
denotes |
Analysis |
| T12756 |
21718-21720 |
IN |
denotes |
of |
| T12757 |
21721-21726 |
NN |
denotes |
ITPR1 |
| T12758 |
21727-21729 |
IN |
denotes |
in |
| T12759 |
21730-21735 |
NN |
denotes |
SCA15 |
| T12760 |
21736-21744 |
NNS |
denotes |
patients |
| T12761 |
21744-21745 |
. |
denotes |
. |
| T12762 |
21745-21827 |
sentence |
denotes |
DNA was extracted from EBV immortalized lymphocytes, derived from family members. |
| T12763 |
21746-21749 |
NN |
denotes |
DNA |
| T12764 |
21754-21763 |
VBN |
denotes |
extracted |
| T12765 |
21750-21753 |
VBD |
denotes |
was |
| T12766 |
21764-21768 |
IN |
denotes |
from |
| T12767 |
21769-21772 |
NN |
denotes |
EBV |
| T12768 |
21786-21797 |
NNS |
denotes |
lymphocytes |
| T12769 |
21773-21785 |
VBN |
denotes |
immortalized |
| T12770 |
21797-21799 |
, |
denotes |
, |
| T12771 |
21799-21806 |
VBN |
denotes |
derived |
| T12772 |
21807-21811 |
IN |
denotes |
from |
| T12773 |
21812-21818 |
NN |
denotes |
family |
| T12774 |
21819-21826 |
NNS |
denotes |
members |
| T12775 |
21826-21827 |
. |
denotes |
. |
| T12776 |
21827-22033 |
sentence |
denotes |
The coding exons and at least 50 bp of flanking introns of ITPR1 were PCR amplified and sequenced using dye-terminator sequencing (BigDye version 3.1; Applied Biosystems, http://www.appliedbiosystems.com). |
| T12777 |
21828-21831 |
DT |
denotes |
The |
| T12778 |
21839-21844 |
NNS |
denotes |
exons |
| T12779 |
21832-21838 |
VBG |
denotes |
coding |
| T12780 |
21902-21911 |
VBN |
denotes |
amplified |
| T12781 |
21845-21848 |
CC |
denotes |
and |
| T12782 |
21849-21851 |
RB |
denotes |
at |
| T12783 |
21858-21860 |
CD |
denotes |
50 |
| T12784 |
21852-21857 |
RBS |
denotes |
least |
| T12785 |
21861-21863 |
NN |
denotes |
bp |
| T12786 |
21864-21866 |
IN |
denotes |
of |
| T12787 |
21867-21875 |
VBG |
denotes |
flanking |
| T12788 |
21876-21883 |
NNS |
denotes |
introns |
| T12789 |
21884-21886 |
IN |
denotes |
of |
| T12790 |
21887-21892 |
NN |
denotes |
ITPR1 |
| T12791 |
21893-21897 |
VBD |
denotes |
were |
| T12792 |
21898-21901 |
NN |
denotes |
PCR |
| T12793 |
21912-21915 |
CC |
denotes |
and |
| T12794 |
21916-21925 |
VBN |
denotes |
sequenced |
| T12795 |
21926-21931 |
VBG |
denotes |
using |
| T12796 |
21932-21935 |
NN |
denotes |
dye |
| T12797 |
21936-21946 |
NN |
denotes |
terminator |
| T12798 |
21935-21936 |
HYPH |
denotes |
- |
| T12799 |
21947-21957 |
NN |
denotes |
sequencing |
| T12800 |
21958-21959 |
-LRB- |
denotes |
( |
| T12801 |
21987-21997 |
NNP |
denotes |
Biosystems |
| T12802 |
21959-21965 |
NNP |
denotes |
BigDye |
| T12803 |
21966-21973 |
NN |
denotes |
version |
| T12804 |
21974-21977 |
CD |
denotes |
3.1 |
| T12805 |
21977-21978 |
: |
denotes |
; |
| T12806 |
21979-21986 |
NNP |
denotes |
Applied |
| T12807 |
21997-21999 |
, |
denotes |
, |
| T12808 |
21999-22031 |
NN |
denotes |
http://www.appliedbiosystems.com |
| T12809 |
22031-22032 |
-RRB- |
denotes |
) |
| T12810 |
22032-22033 |
. |
denotes |
. |
| T12811 |
22033-22158 |
sentence |
denotes |
Sequence reactions were run on an ABI3730XP automated sequencer as per the manufacturer's instructions (Applied Biosystems). |
| T12812 |
22034-22042 |
NN |
denotes |
Sequence |
| T12813 |
22043-22052 |
NNS |
denotes |
reactions |
| T12814 |
22058-22061 |
VBN |
denotes |
run |
| T12815 |
22053-22057 |
VBD |
denotes |
were |
| T12816 |
22062-22064 |
IN |
denotes |
on |
| T12817 |
22065-22067 |
DT |
denotes |
an |
| T12818 |
22088-22097 |
NN |
denotes |
sequencer |
| T12819 |
22068-22077 |
NN |
denotes |
ABI3730XP |
| T12820 |
22078-22087 |
VBN |
denotes |
automated |
| T12821 |
22098-22100 |
IN |
denotes |
as |
| T12822 |
22101-22104 |
IN |
denotes |
per |
| T12823 |
22105-22108 |
DT |
denotes |
the |
| T12824 |
22109-22121 |
NN |
denotes |
manufacturer |
| T12825 |
22124-22136 |
NNS |
denotes |
instructions |
| T12826 |
22121-22123 |
POS |
denotes |
's |
| T12827 |
22137-22138 |
-LRB- |
denotes |
( |
| T12828 |
22146-22156 |
NNP |
denotes |
Biosystems |
| T12829 |
22138-22145 |
NNP |
denotes |
Applied |
| T12830 |
22156-22157 |
-RRB- |
denotes |
) |
| T12831 |
22157-22158 |
. |
denotes |
. |
| T12832 |
22158-22282 |
sentence |
denotes |
This analysis was performed in all three affected family members for whom genomic DNA was available (members 6, 7, and 19). |
| T12833 |
22159-22163 |
DT |
denotes |
This |
| T12834 |
22164-22172 |
NN |
denotes |
analysis |
| T12835 |
22177-22186 |
VBN |
denotes |
performed |
| T12836 |
22173-22176 |
VBD |
denotes |
was |
| T12837 |
22187-22189 |
IN |
denotes |
in |
| T12838 |
22190-22193 |
DT |
denotes |
all |
| T12839 |
22216-22223 |
NNS |
denotes |
members |
| T12840 |
22194-22199 |
CD |
denotes |
three |
| T12841 |
22200-22208 |
VBN |
denotes |
affected |
| T12842 |
22209-22215 |
NN |
denotes |
family |
| T12843 |
22224-22227 |
IN |
denotes |
for |
| T12844 |
22245-22248 |
VBD |
denotes |
was |
| T12845 |
22228-22232 |
WP |
denotes |
whom |
| T12846 |
22233-22240 |
JJ |
denotes |
genomic |
| T12847 |
22241-22244 |
NN |
denotes |
DNA |
| T12848 |
22249-22258 |
JJ |
denotes |
available |
| T12849 |
22259-22260 |
-LRB- |
denotes |
( |
| T12850 |
22268-22269 |
CD |
denotes |
6 |
| T12851 |
22260-22267 |
NNS |
denotes |
members |
| T12852 |
22269-22271 |
, |
denotes |
, |
| T12853 |
22271-22272 |
CD |
denotes |
7 |
| T12854 |
22272-22274 |
, |
denotes |
, |
| T12855 |
22274-22277 |
CC |
denotes |
and |
| T12856 |
22278-22280 |
CD |
denotes |
19 |
| T12857 |
22280-22281 |
-RRB- |
denotes |
) |
| T12858 |
22281-22282 |
. |
denotes |
. |
| T12859 |
22282-22342 |
sentence |
denotes |
Primer sequences and conditions are available upon request. |
| T12860 |
22283-22289 |
NN |
denotes |
Primer |
| T12861 |
22290-22299 |
NNS |
denotes |
sequences |
| T12862 |
22315-22318 |
VBP |
denotes |
are |
| T12863 |
22300-22303 |
CC |
denotes |
and |
| T12864 |
22304-22314 |
NNS |
denotes |
conditions |
| T12865 |
22319-22328 |
JJ |
denotes |
available |
| T12866 |
22329-22333 |
IN |
denotes |
upon |
| T12867 |
22334-22341 |
NN |
denotes |
request |
| T12868 |
22341-22342 |
. |
denotes |
. |
| T12869 |
22342-22439 |
sentence |
denotes |
Sequence data were analyzed using Sequencher (Gene Codes Corporation, http://www.genecodes.com). |
| T12870 |
22343-22351 |
NN |
denotes |
Sequence |
| T12871 |
22352-22356 |
NNS |
denotes |
data |
| T12872 |
22362-22370 |
VBN |
denotes |
analyzed |
| T12873 |
22357-22361 |
VBD |
denotes |
were |
| T12874 |
22371-22376 |
VBG |
denotes |
using |
| T12875 |
22377-22387 |
NNP |
denotes |
Sequencher |
| T12876 |
22388-22389 |
-LRB- |
denotes |
( |
| T12877 |
22400-22411 |
NNP |
denotes |
Corporation |
| T12878 |
22389-22393 |
NNP |
denotes |
Gene |
| T12879 |
22394-22399 |
NNPS |
denotes |
Codes |
| T12880 |
22411-22413 |
, |
denotes |
, |
| T12881 |
22413-22437 |
NN |
denotes |
http://www.genecodes.com |
| T12882 |
22437-22438 |
-RRB- |
denotes |
) |
| T12883 |
22438-22439 |
. |
denotes |
. |
| T12884 |
22439-22600 |
sentence |
denotes |
Genome-wide SNP genotyping was performed using Infinium HumanHap550 SNP genotyping chips as per the manufacturer's protocol (Illumina, http://www.illumina.com). |
| T12885 |
22440-22446 |
NN |
denotes |
Genome |
| T12886 |
22447-22451 |
JJ |
denotes |
wide |
| T12887 |
22446-22447 |
HYPH |
denotes |
- |
| T12888 |
22456-22466 |
NN |
denotes |
genotyping |
| T12889 |
22452-22455 |
NN |
denotes |
SNP |
| T12890 |
22471-22480 |
VBN |
denotes |
performed |
| T12891 |
22467-22470 |
VBD |
denotes |
was |
| T12892 |
22481-22486 |
VBG |
denotes |
using |
| T12893 |
22487-22495 |
NNP |
denotes |
Infinium |
| T12894 |
22508-22511 |
NN |
denotes |
SNP |
| T12895 |
22496-22507 |
NN |
denotes |
HumanHap550 |
| T12896 |
22523-22528 |
NNS |
denotes |
chips |
| T12897 |
22512-22522 |
NN |
denotes |
genotyping |
| T12898 |
22529-22531 |
IN |
denotes |
as |
| T12899 |
22532-22535 |
IN |
denotes |
per |
| T12900 |
22536-22539 |
DT |
denotes |
the |
| T12901 |
22540-22552 |
NN |
denotes |
manufacturer |
| T12902 |
22555-22563 |
NN |
denotes |
protocol |
| T12903 |
22552-22554 |
POS |
denotes |
's |
| T12904 |
22564-22565 |
-LRB- |
denotes |
( |
| T12905 |
22565-22573 |
NNP |
denotes |
Illumina |
| T12906 |
22573-22575 |
, |
denotes |
, |
| T12907 |
22575-22598 |
NN |
denotes |
http://www.illumina.com |
| T12908 |
22598-22599 |
-RRB- |
denotes |
) |
| T12909 |
22599-22600 |
. |
denotes |
. |
| T12910 |
22600-22641 |
sentence |
denotes |
This product assays 555,352 unique SNPs. |
| T12911 |
22601-22605 |
DT |
denotes |
This |
| T12912 |
22606-22613 |
NN |
denotes |
product |
| T12913 |
22614-22620 |
VBZ |
denotes |
assays |
| T12914 |
22621-22628 |
CD |
denotes |
555,352 |
| T12915 |
22636-22640 |
NNS |
denotes |
SNPs |
| T12916 |
22629-22635 |
JJ |
denotes |
unique |
| T12917 |
22640-22641 |
. |
denotes |
. |
| T12918 |
22641-22730 |
sentence |
denotes |
Data were collected using the Illumina BeadStation scanner and data collection software. |
| T12919 |
22642-22646 |
NNS |
denotes |
Data |
| T12920 |
22652-22661 |
VBN |
denotes |
collected |
| T12921 |
22647-22651 |
VBD |
denotes |
were |
| T12922 |
22662-22667 |
VBG |
denotes |
using |
| T12923 |
22668-22671 |
DT |
denotes |
the |
| T12924 |
22693-22700 |
NN |
denotes |
scanner |
| T12925 |
22672-22680 |
NNP |
denotes |
Illumina |
| T12926 |
22681-22692 |
NNP |
denotes |
BeadStation |
| T12927 |
22701-22704 |
CC |
denotes |
and |
| T12928 |
22705-22709 |
NNS |
denotes |
data |
| T12929 |
22710-22720 |
NN |
denotes |
collection |
| T12930 |
22721-22729 |
NN |
denotes |
software |
| T12931 |
22729-22730 |
. |
denotes |
. |
| T12932 |
22730-22929 |
sentence |
denotes |
Genotypes were produced using the genotyping module of BeadStudio (version 2.3.25; Illumina), and log R ratio and B allele frequency were visualized using the genome viewer tool within this package. |
| T12933 |
22731-22740 |
NNS |
denotes |
Genotypes |
| T12934 |
22746-22754 |
VBN |
denotes |
produced |
| T12935 |
22741-22745 |
VBD |
denotes |
were |
| T12936 |
22755-22760 |
VBG |
denotes |
using |
| T12937 |
22761-22764 |
DT |
denotes |
the |
| T12938 |
22776-22782 |
NN |
denotes |
module |
| T12939 |
22765-22775 |
NN |
denotes |
genotyping |
| T12940 |
22783-22785 |
IN |
denotes |
of |
| T12941 |
22786-22796 |
NNP |
denotes |
BeadStudio |
| T12942 |
22797-22798 |
-LRB- |
denotes |
( |
| T12943 |
22798-22805 |
NN |
denotes |
version |
| T12944 |
22806-22812 |
CD |
denotes |
2.3.25 |
| T12945 |
22812-22813 |
: |
denotes |
; |
| T12946 |
22814-22822 |
NNP |
denotes |
Illumina |
| T12947 |
22822-22823 |
-RRB- |
denotes |
) |
| T12948 |
22823-22825 |
, |
denotes |
, |
| T12949 |
22825-22828 |
CC |
denotes |
and |
| T12950 |
22829-22832 |
NN |
denotes |
log |
| T12951 |
22833-22834 |
NN |
denotes |
R |
| T12952 |
22835-22840 |
NN |
denotes |
ratio |
| T12953 |
22869-22879 |
VBN |
denotes |
visualized |
| T12954 |
22841-22844 |
CC |
denotes |
and |
| T12955 |
22845-22846 |
NN |
denotes |
B |
| T12956 |
22847-22853 |
NN |
denotes |
allele |
| T12957 |
22854-22863 |
NN |
denotes |
frequency |
| T12958 |
22864-22868 |
VBD |
denotes |
were |
| T12959 |
22880-22885 |
VBG |
denotes |
using |
| T12960 |
22886-22889 |
DT |
denotes |
the |
| T12961 |
22904-22908 |
NN |
denotes |
tool |
| T12962 |
22890-22896 |
NN |
denotes |
genome |
| T12963 |
22897-22903 |
JJR |
denotes |
viewer |
| T12964 |
22909-22915 |
IN |
denotes |
within |
| T12965 |
22916-22920 |
DT |
denotes |
this |
| T12966 |
22921-22928 |
NN |
denotes |
package |
| T12967 |
22928-22929 |
. |
denotes |
. |
| T12968 |
22929-23266 |
sentence |
denotes |
In order to rule out the possibility that the observed deletion within ITPR1 was a benign copy number variant we examined log R ratio and B allele frequency metrics of HumanHap550 genotyping data at this locus from 577 individuals of Northern European descent from North America and Europe, produced by us as a part of an ongoing study. |
| T12969 |
22930-22932 |
IN |
denotes |
In |
| T12970 |
23043-23051 |
VBD |
denotes |
examined |
| T12971 |
22933-22938 |
NN |
denotes |
order |
| T12972 |
22939-22941 |
TO |
denotes |
to |
| T12973 |
22942-22946 |
VB |
denotes |
rule |
| T12974 |
22947-22950 |
RP |
denotes |
out |
| T12975 |
22951-22954 |
DT |
denotes |
the |
| T12976 |
22955-22966 |
NN |
denotes |
possibility |
| T12977 |
22967-22971 |
IN |
denotes |
that |
| T12978 |
23007-23010 |
VBD |
denotes |
was |
| T12979 |
22972-22975 |
DT |
denotes |
the |
| T12980 |
22985-22993 |
NN |
denotes |
deletion |
| T12981 |
22976-22984 |
VBN |
denotes |
observed |
| T12982 |
22994-23000 |
IN |
denotes |
within |
| T12983 |
23001-23006 |
NN |
denotes |
ITPR1 |
| T12984 |
23011-23012 |
DT |
denotes |
a |
| T12985 |
23032-23039 |
NN |
denotes |
variant |
| T12986 |
23013-23019 |
JJ |
denotes |
benign |
| T12987 |
23020-23024 |
NN |
denotes |
copy |
| T12988 |
23025-23031 |
NN |
denotes |
number |
| T12989 |
23040-23042 |
PRP |
denotes |
we |
| T12990 |
23052-23055 |
NN |
denotes |
log |
| T12991 |
23056-23057 |
NN |
denotes |
R |
| T12992 |
23058-23063 |
NN |
denotes |
ratio |
| T12993 |
23087-23094 |
NNS |
denotes |
metrics |
| T12994 |
23064-23067 |
CC |
denotes |
and |
| T12995 |
23068-23069 |
NN |
denotes |
B |
| T12996 |
23070-23076 |
NN |
denotes |
allele |
| T12997 |
23077-23086 |
NN |
denotes |
frequency |
| T12998 |
23095-23097 |
IN |
denotes |
of |
| T12999 |
23098-23109 |
NN |
denotes |
HumanHap550 |
| T13000 |
23121-23125 |
NNS |
denotes |
data |
| T13001 |
23110-23120 |
NN |
denotes |
genotyping |
| T13002 |
23126-23128 |
IN |
denotes |
at |
| T13003 |
23129-23133 |
DT |
denotes |
this |
| T13004 |
23134-23139 |
NN |
denotes |
locus |
| T13005 |
23140-23144 |
IN |
denotes |
from |
| T13006 |
23145-23148 |
CD |
denotes |
577 |
| T13007 |
23149-23160 |
NNS |
denotes |
individuals |
| T13008 |
23161-23163 |
IN |
denotes |
of |
| T13009 |
23164-23172 |
JJ |
denotes |
Northern |
| T13010 |
23173-23181 |
JJ |
denotes |
European |
| T13011 |
23182-23189 |
NN |
denotes |
descent |
| T13012 |
23190-23194 |
IN |
denotes |
from |
| T13013 |
23195-23200 |
NNP |
denotes |
North |
| T13014 |
23201-23208 |
NNP |
denotes |
America |
| T13015 |
23209-23212 |
CC |
denotes |
and |
| T13016 |
23213-23219 |
NNP |
denotes |
Europe |
| T13017 |
23219-23221 |
, |
denotes |
, |
| T13018 |
23221-23229 |
VBN |
denotes |
produced |
| T13019 |
23230-23232 |
IN |
denotes |
by |
| T13020 |
23233-23235 |
PRP |
denotes |
us |
| T13021 |
23236-23238 |
IN |
denotes |
as |
| T13022 |
23239-23240 |
DT |
denotes |
a |
| T13023 |
23241-23245 |
NN |
denotes |
part |
| T13024 |
23246-23248 |
IN |
denotes |
of |
| T13025 |
23249-23251 |
DT |
denotes |
an |
| T13026 |
23260-23265 |
NN |
denotes |
study |
| T13027 |
23252-23259 |
JJ |
denotes |
ongoing |
| T13028 |
23265-23266 |
. |
denotes |
. |
| T13029 |
23266-23537 |
sentence |
denotes |
In an attempt to narrow the unknown intervals flanking the deletion observed in family AUS1, we designed primers for 30 PCR amplifications that would generate overlapping fragments across the two bordering regions (primer sequence and conditions available upon request). |
| T13030 |
23267-23269 |
IN |
denotes |
In |
| T13031 |
23363-23371 |
VBD |
denotes |
designed |
| T13032 |
23270-23272 |
DT |
denotes |
an |
| T13033 |
23273-23280 |
NN |
denotes |
attempt |
| T13034 |
23281-23283 |
TO |
denotes |
to |
| T13035 |
23284-23290 |
VB |
denotes |
narrow |
| T13036 |
23291-23294 |
DT |
denotes |
the |
| T13037 |
23303-23312 |
NNS |
denotes |
intervals |
| T13038 |
23295-23302 |
JJ |
denotes |
unknown |
| T13039 |
23313-23321 |
VBG |
denotes |
flanking |
| T13040 |
23322-23325 |
DT |
denotes |
the |
| T13041 |
23326-23334 |
NN |
denotes |
deletion |
| T13042 |
23335-23343 |
VBN |
denotes |
observed |
| T13043 |
23344-23346 |
IN |
denotes |
in |
| T13044 |
23347-23353 |
NN |
denotes |
family |
| T13045 |
23354-23358 |
NN |
denotes |
AUS1 |
| T13046 |
23358-23360 |
, |
denotes |
, |
| T13047 |
23360-23362 |
PRP |
denotes |
we |
| T13048 |
23372-23379 |
NNS |
denotes |
primers |
| T13049 |
23380-23383 |
IN |
denotes |
for |
| T13050 |
23384-23386 |
CD |
denotes |
30 |
| T13051 |
23391-23405 |
NNS |
denotes |
amplifications |
| T13052 |
23387-23390 |
NN |
denotes |
PCR |
| T13053 |
23406-23410 |
WDT |
denotes |
that |
| T13054 |
23417-23425 |
VB |
denotes |
generate |
| T13055 |
23411-23416 |
MD |
denotes |
would |
| T13056 |
23426-23437 |
VBG |
denotes |
overlapping |
| T13057 |
23438-23447 |
NNS |
denotes |
fragments |
| T13058 |
23448-23454 |
IN |
denotes |
across |
| T13059 |
23455-23458 |
DT |
denotes |
the |
| T13060 |
23473-23480 |
NNS |
denotes |
regions |
| T13061 |
23459-23462 |
CD |
denotes |
two |
| T13062 |
23463-23472 |
NN |
denotes |
bordering |
| T13063 |
23481-23482 |
-LRB- |
denotes |
( |
| T13064 |
23489-23497 |
NN |
denotes |
sequence |
| T13065 |
23482-23488 |
NN |
denotes |
primer |
| T13066 |
23498-23501 |
CC |
denotes |
and |
| T13067 |
23502-23512 |
NNS |
denotes |
conditions |
| T13068 |
23513-23522 |
JJ |
denotes |
available |
| T13069 |
23523-23527 |
IN |
denotes |
upon |
| T13070 |
23528-23535 |
NN |
denotes |
request |
| T13071 |
23535-23536 |
-RRB- |
denotes |
) |
| T13072 |
23536-23537 |
. |
denotes |
. |
| T13073 |
23537-23659 |
sentence |
denotes |
There were ten primer pairs in the telomeric flanking region and 20 pairs in the centromeric flanking region (Figure S3). |
| T13074 |
23538-23543 |
EX |
denotes |
There |
| T13075 |
23544-23548 |
VBD |
denotes |
were |
| T13076 |
23549-23552 |
CD |
denotes |
ten |
| T13077 |
23560-23565 |
NNS |
denotes |
pairs |
| T13078 |
23553-23559 |
NN |
denotes |
primer |
| T13079 |
23566-23568 |
IN |
denotes |
in |
| T13080 |
23569-23572 |
DT |
denotes |
the |
| T13081 |
23592-23598 |
NN |
denotes |
region |
| T13082 |
23573-23582 |
JJ |
denotes |
telomeric |
| T13083 |
23583-23591 |
NN |
denotes |
flanking |
| T13084 |
23599-23602 |
CC |
denotes |
and |
| T13085 |
23603-23605 |
CD |
denotes |
20 |
| T13086 |
23606-23611 |
NNS |
denotes |
pairs |
| T13087 |
23612-23614 |
IN |
denotes |
in |
| T13088 |
23615-23618 |
DT |
denotes |
the |
| T13089 |
23640-23646 |
NN |
denotes |
region |
| T13090 |
23619-23630 |
JJ |
denotes |
centromeric |
| T13091 |
23631-23639 |
NN |
denotes |
flanking |
| T13092 |
23647-23648 |
-LRB- |
denotes |
( |
| T13093 |
23655-23657 |
NN |
denotes |
S3 |
| T13094 |
23648-23654 |
NN |
denotes |
Figure |
| T13095 |
23657-23658 |
-RRB- |
denotes |
) |
| T13096 |
23658-23659 |
. |
denotes |
. |
| T13097 |
23659-23831 |
sentence |
denotes |
On average each product was ~750 bp in size, and amplifications were performed using genomic DNA from each of the three affected individuals (family members 6, 7, and 19). |
| T13098 |
23660-23662 |
IN |
denotes |
On |
| T13099 |
23684-23687 |
VBD |
denotes |
was |
| T13100 |
23663-23670 |
JJ |
denotes |
average |
| T13101 |
23671-23675 |
DT |
denotes |
each |
| T13102 |
23676-23683 |
NN |
denotes |
product |
| T13103 |
23688-23689 |
SYM |
denotes |
~ |
| T13104 |
23689-23692 |
CD |
denotes |
750 |
| T13105 |
23693-23695 |
NN |
denotes |
bp |
| T13106 |
23696-23698 |
IN |
denotes |
in |
| T13107 |
23699-23703 |
NN |
denotes |
size |
| T13108 |
23703-23705 |
, |
denotes |
, |
| T13109 |
23705-23708 |
CC |
denotes |
and |
| T13110 |
23709-23723 |
NNS |
denotes |
amplifications |
| T13111 |
23729-23738 |
VBN |
denotes |
performed |
| T13112 |
23724-23728 |
VBD |
denotes |
were |
| T13113 |
23739-23744 |
VBG |
denotes |
using |
| T13114 |
23745-23752 |
JJ |
denotes |
genomic |
| T13115 |
23753-23756 |
NN |
denotes |
DNA |
| T13116 |
23757-23761 |
IN |
denotes |
from |
| T13117 |
23762-23766 |
DT |
denotes |
each |
| T13118 |
23767-23769 |
IN |
denotes |
of |
| T13119 |
23770-23773 |
DT |
denotes |
the |
| T13120 |
23789-23800 |
NNS |
denotes |
individuals |
| T13121 |
23774-23779 |
CD |
denotes |
three |
| T13122 |
23780-23788 |
VBN |
denotes |
affected |
| T13123 |
23801-23802 |
-LRB- |
denotes |
( |
| T13124 |
23817-23818 |
CD |
denotes |
6 |
| T13125 |
23802-23808 |
NN |
denotes |
family |
| T13126 |
23809-23816 |
NNS |
denotes |
members |
| T13127 |
23818-23820 |
, |
denotes |
, |
| T13128 |
23820-23821 |
CD |
denotes |
7 |
| T13129 |
23821-23823 |
, |
denotes |
, |
| T13130 |
23823-23826 |
CC |
denotes |
and |
| T13131 |
23827-23829 |
CD |
denotes |
19 |
| T13132 |
23829-23830 |
-RRB- |
denotes |
) |
| T13133 |
23830-23831 |
. |
denotes |
. |
| T13134 |
23831-24025 |
sentence |
denotes |
Dye-terminator sequencing of each product was performed using the forward and reverse primers designed for amplification; running and analysis of each fragment was performed as described above. |
| T13135 |
23832-23835 |
NN |
denotes |
Dye |
| T13136 |
23836-23846 |
NN |
denotes |
terminator |
| T13137 |
23835-23836 |
HYPH |
denotes |
- |
| T13138 |
23847-23857 |
NN |
denotes |
sequencing |
| T13139 |
23878-23887 |
VBN |
denotes |
performed |
| T13140 |
23858-23860 |
IN |
denotes |
of |
| T13141 |
23861-23865 |
DT |
denotes |
each |
| T13142 |
23866-23873 |
NN |
denotes |
product |
| T13143 |
23874-23877 |
VBD |
denotes |
was |
| T13144 |
23996-24005 |
VBN |
denotes |
performed |
| T13145 |
23888-23893 |
VBG |
denotes |
using |
| T13146 |
23894-23897 |
DT |
denotes |
the |
| T13147 |
23918-23925 |
NNS |
denotes |
primers |
| T13148 |
23898-23905 |
JJ |
denotes |
forward |
| T13149 |
23906-23909 |
CC |
denotes |
and |
| T13150 |
23910-23917 |
JJ |
denotes |
reverse |
| T13151 |
23926-23934 |
VBN |
denotes |
designed |
| T13152 |
23935-23938 |
IN |
denotes |
for |
| T13153 |
23939-23952 |
NN |
denotes |
amplification |
| T13154 |
23952-23953 |
: |
denotes |
; |
| T13155 |
23954-23961 |
VBG |
denotes |
running |
| T13156 |
23966-23974 |
NN |
denotes |
analysis |
| T13157 |
23962-23965 |
CC |
denotes |
and |
| T13158 |
23975-23977 |
IN |
denotes |
of |
| T13159 |
23978-23982 |
DT |
denotes |
each |
| T13160 |
23983-23991 |
NN |
denotes |
fragment |
| T13161 |
23992-23995 |
VBD |
denotes |
was |
| T13162 |
24006-24008 |
IN |
denotes |
as |
| T13163 |
24009-24018 |
VBN |
denotes |
described |
| T13164 |
24019-24024 |
RB |
denotes |
above |
| T13165 |
24024-24025 |
. |
denotes |
. |
| T13166 |
24025-24478 |
sentence |
denotes |
Amplification of a fragment from a normal diploid genome was denoted by the presence of a heterozygous polymorphism; amplification of a fragment from a region of the genome harboring a heterozygous genomic deletion was inferred when homozygosity for the major allele and the minor allele were noted among the three affected family members (i.e., this is inconsistent with Mendelian inheritance in related individuals known to share a common haplotype). |
| T13167 |
24026-24039 |
NN |
denotes |
Amplification |
| T13168 |
24087-24094 |
VBN |
denotes |
denoted |
| T13169 |
24040-24042 |
IN |
denotes |
of |
| T13170 |
24043-24044 |
DT |
denotes |
a |
| T13171 |
24045-24053 |
NN |
denotes |
fragment |
| T13172 |
24054-24058 |
IN |
denotes |
from |
| T13173 |
24059-24060 |
DT |
denotes |
a |
| T13174 |
24076-24082 |
NN |
denotes |
genome |
| T13175 |
24061-24067 |
JJ |
denotes |
normal |
| T13176 |
24068-24075 |
JJ |
denotes |
diploid |
| T13177 |
24083-24086 |
VBD |
denotes |
was |
| T13178 |
24245-24253 |
VBN |
denotes |
inferred |
| T13179 |
24095-24097 |
IN |
denotes |
by |
| T13180 |
24098-24101 |
DT |
denotes |
the |
| T13181 |
24102-24110 |
NN |
denotes |
presence |
| T13182 |
24111-24113 |
IN |
denotes |
of |
| T13183 |
24114-24115 |
DT |
denotes |
a |
| T13184 |
24129-24141 |
NN |
denotes |
polymorphism |
| T13185 |
24116-24128 |
JJ |
denotes |
heterozygous |
| T13186 |
24141-24142 |
: |
denotes |
; |
| T13187 |
24143-24156 |
NN |
denotes |
amplification |
| T13188 |
24157-24159 |
IN |
denotes |
of |
| T13189 |
24160-24161 |
DT |
denotes |
a |
| T13190 |
24162-24170 |
NN |
denotes |
fragment |
| T13191 |
24171-24175 |
IN |
denotes |
from |
| T13192 |
24176-24177 |
DT |
denotes |
a |
| T13193 |
24178-24184 |
NN |
denotes |
region |
| T13194 |
24185-24187 |
IN |
denotes |
of |
| T13195 |
24188-24191 |
DT |
denotes |
the |
| T13196 |
24192-24198 |
NN |
denotes |
genome |
| T13197 |
24199-24208 |
VBG |
denotes |
harboring |
| T13198 |
24209-24210 |
DT |
denotes |
a |
| T13199 |
24232-24240 |
NN |
denotes |
deletion |
| T13200 |
24211-24223 |
JJ |
denotes |
heterozygous |
| T13201 |
24224-24231 |
JJ |
denotes |
genomic |
| T13202 |
24241-24244 |
VBD |
denotes |
was |
| T13203 |
24254-24258 |
WRB |
denotes |
when |
| T13204 |
24319-24324 |
VBN |
denotes |
noted |
| T13205 |
24259-24271 |
NN |
denotes |
homozygosity |
| T13206 |
24272-24275 |
IN |
denotes |
for |
| T13207 |
24276-24279 |
DT |
denotes |
the |
| T13208 |
24286-24292 |
NN |
denotes |
allele |
| T13209 |
24280-24285 |
JJ |
denotes |
major |
| T13210 |
24293-24296 |
CC |
denotes |
and |
| T13211 |
24297-24300 |
DT |
denotes |
the |
| T13212 |
24307-24313 |
NN |
denotes |
allele |
| T13213 |
24301-24306 |
JJ |
denotes |
minor |
| T13214 |
24314-24318 |
VBD |
denotes |
were |
| T13215 |
24325-24330 |
IN |
denotes |
among |
| T13216 |
24331-24334 |
DT |
denotes |
the |
| T13217 |
24357-24364 |
NNS |
denotes |
members |
| T13218 |
24335-24340 |
CD |
denotes |
three |
| T13219 |
24341-24349 |
VBN |
denotes |
affected |
| T13220 |
24350-24356 |
NN |
denotes |
family |
| T13221 |
24365-24366 |
-LRB- |
denotes |
( |
| T13222 |
24377-24379 |
VBZ |
denotes |
is |
| T13223 |
24366-24370 |
FW |
denotes |
i.e. |
| T13224 |
24370-24372 |
, |
denotes |
, |
| T13225 |
24372-24376 |
DT |
denotes |
this |
| T13226 |
24380-24392 |
JJ |
denotes |
inconsistent |
| T13227 |
24393-24397 |
IN |
denotes |
with |
| T13228 |
24398-24407 |
JJ |
denotes |
Mendelian |
| T13229 |
24408-24419 |
NN |
denotes |
inheritance |
| T13230 |
24420-24422 |
IN |
denotes |
in |
| T13231 |
24423-24430 |
JJ |
denotes |
related |
| T13232 |
24431-24442 |
NNS |
denotes |
individuals |
| T13233 |
24443-24448 |
VBN |
denotes |
known |
| T13234 |
24449-24451 |
TO |
denotes |
to |
| T13235 |
24452-24457 |
VB |
denotes |
share |
| T13236 |
24458-24459 |
DT |
denotes |
a |
| T13237 |
24467-24476 |
NN |
denotes |
haplotype |
| T13238 |
24460-24466 |
JJ |
denotes |
common |
| T13239 |
24476-24477 |
-RRB- |
denotes |
) |
| T13240 |
24477-24478 |
. |
denotes |
. |
| T13241 |
24478-24667 |
sentence |
denotes |
Using the data from the experiments described above we were able to limit the size of unknown regions flanking the deletion to ~4 kb on the telomeric side and 7 kb on the centromeric side. |
| T13242 |
24479-24484 |
VBG |
denotes |
Using |
| T13243 |
24534-24538 |
VBD |
denotes |
were |
| T13244 |
24485-24488 |
DT |
denotes |
the |
| T13245 |
24489-24493 |
NNS |
denotes |
data |
| T13246 |
24494-24498 |
IN |
denotes |
from |
| T13247 |
24499-24502 |
DT |
denotes |
the |
| T13248 |
24503-24514 |
NNS |
denotes |
experiments |
| T13249 |
24515-24524 |
VBN |
denotes |
described |
| T13250 |
24525-24530 |
RB |
denotes |
above |
| T13251 |
24531-24533 |
PRP |
denotes |
we |
| T13252 |
24539-24543 |
JJ |
denotes |
able |
| T13253 |
24544-24546 |
TO |
denotes |
to |
| T13254 |
24547-24552 |
VB |
denotes |
limit |
| T13255 |
24553-24556 |
DT |
denotes |
the |
| T13256 |
24557-24561 |
NN |
denotes |
size |
| T13257 |
24562-24564 |
IN |
denotes |
of |
| T13258 |
24565-24572 |
JJ |
denotes |
unknown |
| T13259 |
24573-24580 |
NNS |
denotes |
regions |
| T13260 |
24581-24589 |
VBG |
denotes |
flanking |
| T13261 |
24590-24593 |
DT |
denotes |
the |
| T13262 |
24594-24602 |
NN |
denotes |
deletion |
| T13263 |
24603-24605 |
IN |
denotes |
to |
| T13264 |
24606-24607 |
SYM |
denotes |
~ |
| T13265 |
24607-24608 |
CD |
denotes |
4 |
| T13266 |
24609-24611 |
NN |
denotes |
kb |
| T13267 |
24612-24614 |
IN |
denotes |
on |
| T13268 |
24615-24618 |
DT |
denotes |
the |
| T13269 |
24629-24633 |
NN |
denotes |
side |
| T13270 |
24619-24628 |
JJ |
denotes |
telomeric |
| T13271 |
24634-24637 |
CC |
denotes |
and |
| T13272 |
24638-24639 |
CD |
denotes |
7 |
| T13273 |
24640-24642 |
NN |
denotes |
kb |
| T13274 |
24643-24645 |
IN |
denotes |
on |
| T13275 |
24646-24649 |
DT |
denotes |
the |
| T13276 |
24662-24666 |
NN |
denotes |
side |
| T13277 |
24650-24661 |
JJ |
denotes |
centromeric |
| T13278 |
24666-24667 |
. |
denotes |
. |
| T13279 |
24667-25011 |
sentence |
denotes |
All combinations of forward primers from the newly defined region flanking the deletion on the telomeric side with reverse primers from the newly defined region flanking the deletion on the centromeric side were used in PCR amplification reactions performed with DNA from the three affected family members and single unaffected family members. |
| T13280 |
24668-24671 |
DT |
denotes |
All |
| T13281 |
24672-24684 |
NNS |
denotes |
combinations |
| T13282 |
24880-24884 |
VBN |
denotes |
used |
| T13283 |
24685-24687 |
IN |
denotes |
of |
| T13284 |
24688-24695 |
JJ |
denotes |
forward |
| T13285 |
24696-24703 |
NNS |
denotes |
primers |
| T13286 |
24704-24708 |
IN |
denotes |
from |
| T13287 |
24709-24712 |
DT |
denotes |
the |
| T13288 |
24727-24733 |
NN |
denotes |
region |
| T13289 |
24713-24718 |
RB |
denotes |
newly |
| T13290 |
24719-24726 |
VBN |
denotes |
defined |
| T13291 |
24734-24742 |
VBG |
denotes |
flanking |
| T13292 |
24743-24746 |
DT |
denotes |
the |
| T13293 |
24747-24755 |
NN |
denotes |
deletion |
| T13294 |
24756-24758 |
IN |
denotes |
on |
| T13295 |
24759-24762 |
DT |
denotes |
the |
| T13296 |
24773-24777 |
NN |
denotes |
side |
| T13297 |
24763-24772 |
JJ |
denotes |
telomeric |
| T13298 |
24778-24782 |
IN |
denotes |
with |
| T13299 |
24783-24790 |
JJ |
denotes |
reverse |
| T13300 |
24791-24798 |
NNS |
denotes |
primers |
| T13301 |
24799-24803 |
IN |
denotes |
from |
| T13302 |
24804-24807 |
DT |
denotes |
the |
| T13303 |
24822-24828 |
NN |
denotes |
region |
| T13304 |
24808-24813 |
RB |
denotes |
newly |
| T13305 |
24814-24821 |
VBN |
denotes |
defined |
| T13306 |
24829-24837 |
VBG |
denotes |
flanking |
| T13307 |
24838-24841 |
DT |
denotes |
the |
| T13308 |
24842-24850 |
NN |
denotes |
deletion |
| T13309 |
24851-24853 |
IN |
denotes |
on |
| T13310 |
24854-24857 |
DT |
denotes |
the |
| T13311 |
24870-24874 |
NN |
denotes |
side |
| T13312 |
24858-24869 |
JJ |
denotes |
centromeric |
| T13313 |
24875-24879 |
VBD |
denotes |
were |
| T13314 |
24885-24887 |
IN |
denotes |
in |
| T13315 |
24888-24891 |
NN |
denotes |
PCR |
| T13316 |
24892-24905 |
NN |
denotes |
amplification |
| T13317 |
24906-24915 |
NNS |
denotes |
reactions |
| T13318 |
24916-24925 |
VBN |
denotes |
performed |
| T13319 |
24926-24930 |
IN |
denotes |
with |
| T13320 |
24931-24934 |
NN |
denotes |
DNA |
| T13321 |
24935-24939 |
IN |
denotes |
from |
| T13322 |
24940-24943 |
DT |
denotes |
the |
| T13323 |
24966-24973 |
NNS |
denotes |
members |
| T13324 |
24944-24949 |
CD |
denotes |
three |
| T13325 |
24950-24958 |
VBN |
denotes |
affected |
| T13326 |
24959-24965 |
NN |
denotes |
family |
| T13327 |
24974-24977 |
CC |
denotes |
and |
| T13328 |
24978-24984 |
JJ |
denotes |
single |
| T13329 |
25003-25010 |
NNS |
denotes |
members |
| T13330 |
24985-24995 |
JJ |
denotes |
unaffected |
| T13331 |
24996-25002 |
NN |
denotes |
family |
| T13332 |
25010-25011 |
. |
denotes |
. |
| T13333 |
25011-25127 |
sentence |
denotes |
This experiment was performed in an attempt to amplify across the deleted fragment and define the exact breakpoint. |
| T13334 |
25012-25016 |
DT |
denotes |
This |
| T13335 |
25017-25027 |
NN |
denotes |
experiment |
| T13336 |
25032-25041 |
VBN |
denotes |
performed |
| T13337 |
25028-25031 |
VBD |
denotes |
was |
| T13338 |
25042-25044 |
IN |
denotes |
in |
| T13339 |
25045-25047 |
DT |
denotes |
an |
| T13340 |
25048-25055 |
NN |
denotes |
attempt |
| T13341 |
25056-25058 |
TO |
denotes |
to |
| T13342 |
25059-25066 |
VB |
denotes |
amplify |
| T13343 |
25067-25073 |
IN |
denotes |
across |
| T13344 |
25074-25077 |
DT |
denotes |
the |
| T13345 |
25086-25094 |
NN |
denotes |
fragment |
| T13346 |
25078-25085 |
VBN |
denotes |
deleted |
| T13347 |
25095-25098 |
CC |
denotes |
and |
| T13348 |
25099-25105 |
VB |
denotes |
define |
| T13349 |
25106-25109 |
DT |
denotes |
the |
| T13350 |
25116-25126 |
NN |
denotes |
breakpoint |
| T13351 |
25110-25115 |
JJ |
denotes |
exact |
| T13352 |
25126-25127 |
. |
denotes |
. |
| T13353 |
25127-25335 |
sentence |
denotes |
A single fragment was obtained from the third forward primer from the telomeric side (T3f 5′-TGAATGCTCAATTTTCCAGC-3′) with the 11th reverse primer from the centromeric side (C11r 5′-GGGAAAATGGATAGAGGGTG-3′). |
| T13354 |
25128-25129 |
DT |
denotes |
A |
| T13355 |
25137-25145 |
NN |
denotes |
fragment |
| T13356 |
25130-25136 |
JJ |
denotes |
single |
| T13357 |
25150-25158 |
VBN |
denotes |
obtained |
| T13358 |
25146-25149 |
VBD |
denotes |
was |
| T13359 |
25159-25163 |
IN |
denotes |
from |
| T13360 |
25164-25167 |
DT |
denotes |
the |
| T13361 |
25182-25188 |
NN |
denotes |
primer |
| T13362 |
25168-25173 |
JJ |
denotes |
third |
| T13363 |
25174-25181 |
JJ |
denotes |
forward |
| T13364 |
25189-25193 |
IN |
denotes |
from |
| T13365 |
25194-25197 |
DT |
denotes |
the |
| T13366 |
25208-25212 |
NN |
denotes |
side |
| T13367 |
25198-25207 |
JJ |
denotes |
telomeric |
| T13368 |
25213-25214 |
-LRB- |
denotes |
( |
| T13369 |
25221-25241 |
NN |
denotes |
TGAATGCTCAATTTTCCAGC |
| T13370 |
25214-25217 |
NN |
denotes |
T3f |
| T13371 |
25218-25219 |
CD |
denotes |
5 |
| T13372 |
25219-25220 |
SYM |
denotes |
′ |
| T13373 |
25220-25221 |
HYPH |
denotes |
- |
| T13374 |
25241-25242 |
HYPH |
denotes |
- |
| T13375 |
25242-25243 |
CD |
denotes |
3 |
| T13376 |
25243-25244 |
SYM |
denotes |
′ |
| T13377 |
25244-25245 |
-RRB- |
denotes |
) |
| T13378 |
25246-25250 |
IN |
denotes |
with |
| T13379 |
25251-25254 |
DT |
denotes |
the |
| T13380 |
25268-25274 |
NN |
denotes |
primer |
| T13381 |
25255-25259 |
JJ |
denotes |
11th |
| T13382 |
25260-25267 |
JJ |
denotes |
reverse |
| T13383 |
25275-25279 |
IN |
denotes |
from |
| T13384 |
25280-25283 |
DT |
denotes |
the |
| T13385 |
25296-25300 |
NN |
denotes |
side |
| T13386 |
25284-25295 |
JJ |
denotes |
centromeric |
| T13387 |
25301-25302 |
-LRB- |
denotes |
( |
| T13388 |
25310-25330 |
NN |
denotes |
GGGAAAATGGATAGAGGGTG |
| T13389 |
25302-25306 |
NN |
denotes |
C11r |
| T13390 |
25307-25308 |
CD |
denotes |
5 |
| T13391 |
25308-25309 |
SYM |
denotes |
′ |
| T13392 |
25309-25310 |
HYPH |
denotes |
- |
| T13393 |
25330-25331 |
HYPH |
denotes |
- |
| T13394 |
25331-25332 |
CD |
denotes |
3 |
| T13395 |
25332-25333 |
SYM |
denotes |
′ |
| T13396 |
25333-25334 |
-RRB- |
denotes |
) |
| T13397 |
25334-25335 |
. |
denotes |
. |
| T13398 |
25335-25462 |
sentence |
denotes |
The fragment, which is 953 bp in size, was sequenced as described above and compared to the current build of the human genome. |
| T13399 |
25336-25339 |
DT |
denotes |
The |
| T13400 |
25340-25348 |
NN |
denotes |
fragment |
| T13401 |
25379-25388 |
VBN |
denotes |
sequenced |
| T13402 |
25348-25350 |
, |
denotes |
, |
| T13403 |
25350-25355 |
WDT |
denotes |
which |
| T13404 |
25356-25358 |
VBZ |
denotes |
is |
| T13405 |
25359-25362 |
CD |
denotes |
953 |
| T13406 |
25363-25365 |
NN |
denotes |
bp |
| T13407 |
25366-25368 |
IN |
denotes |
in |
| T13408 |
25369-25373 |
NN |
denotes |
size |
| T13409 |
25373-25375 |
, |
denotes |
, |
| T13410 |
25375-25378 |
VBD |
denotes |
was |
| T13411 |
25389-25391 |
IN |
denotes |
as |
| T13412 |
25392-25401 |
VBN |
denotes |
described |
| T13413 |
25402-25407 |
RB |
denotes |
above |
| T13414 |
25408-25411 |
CC |
denotes |
and |
| T13415 |
25412-25420 |
VBN |
denotes |
compared |
| T13416 |
25421-25423 |
IN |
denotes |
to |
| T13417 |
25424-25427 |
DT |
denotes |
the |
| T13418 |
25436-25441 |
NN |
denotes |
build |
| T13419 |
25428-25435 |
JJ |
denotes |
current |
| T13420 |
25442-25444 |
IN |
denotes |
of |
| T13421 |
25445-25448 |
DT |
denotes |
the |
| T13422 |
25455-25461 |
NN |
denotes |
genome |
| T13423 |
25449-25454 |
JJ |
denotes |
human |
| T13424 |
25461-25462 |
. |
denotes |
. |
| T13425 |
25462-25857 |
sentence |
denotes |
A similar series of experiments was performed to identify the deletion breakpoints in families H27 and H33; we were able to amplify a 369-bp PCR product across the breakpoint found in affected members of family H27 using primer pair H27-11F 5′-GACCTCAAGAAGGCATGAATAC-3′ and H27-3R 5′-ATGGTGGCCAGGTACACAAG-3′ (Figure S4), but to date we have been unable to identify the breakpoint in family H33. |
| T13426 |
25463-25464 |
DT |
denotes |
A |
| T13427 |
25473-25479 |
NN |
denotes |
series |
| T13428 |
25465-25472 |
JJ |
denotes |
similar |
| T13429 |
25499-25508 |
VBN |
denotes |
performed |
| T13430 |
25480-25482 |
IN |
denotes |
of |
| T13431 |
25483-25494 |
NNS |
denotes |
experiments |
| T13432 |
25495-25498 |
VBD |
denotes |
was |
| T13433 |
25574-25578 |
VBD |
denotes |
were |
| T13434 |
25509-25511 |
TO |
denotes |
to |
| T13435 |
25512-25520 |
VB |
denotes |
identify |
| T13436 |
25521-25524 |
DT |
denotes |
the |
| T13437 |
25534-25545 |
NNS |
denotes |
breakpoints |
| T13438 |
25525-25533 |
NN |
denotes |
deletion |
| T13439 |
25546-25548 |
IN |
denotes |
in |
| T13440 |
25549-25557 |
NNS |
denotes |
families |
| T13441 |
25558-25561 |
NN |
denotes |
H27 |
| T13442 |
25562-25565 |
CC |
denotes |
and |
| T13443 |
25566-25569 |
NN |
denotes |
H33 |
| T13444 |
25569-25570 |
: |
denotes |
; |
| T13445 |
25571-25573 |
PRP |
denotes |
we |
| T13446 |
25579-25583 |
JJ |
denotes |
able |
| T13447 |
25584-25586 |
TO |
denotes |
to |
| T13448 |
25587-25594 |
VB |
denotes |
amplify |
| T13449 |
25595-25596 |
DT |
denotes |
a |
| T13450 |
25608-25615 |
NN |
denotes |
product |
| T13451 |
25597-25600 |
CD |
denotes |
369 |
| T13452 |
25601-25603 |
NN |
denotes |
bp |
| T13453 |
25600-25601 |
HYPH |
denotes |
- |
| T13454 |
25604-25607 |
NN |
denotes |
PCR |
| T13455 |
25616-25622 |
IN |
denotes |
across |
| T13456 |
25623-25626 |
DT |
denotes |
the |
| T13457 |
25627-25637 |
NN |
denotes |
breakpoint |
| T13458 |
25638-25643 |
VBN |
denotes |
found |
| T13459 |
25644-25646 |
IN |
denotes |
in |
| T13460 |
25647-25655 |
VBN |
denotes |
affected |
| T13461 |
25656-25663 |
NNS |
denotes |
members |
| T13462 |
25664-25666 |
IN |
denotes |
of |
| T13463 |
25667-25673 |
NN |
denotes |
family |
| T13464 |
25674-25677 |
NN |
denotes |
H27 |
| T13465 |
25678-25683 |
VBG |
denotes |
using |
| T13466 |
25684-25690 |
NN |
denotes |
primer |
| T13467 |
25691-25695 |
NN |
denotes |
pair |
| T13468 |
25696-25699 |
NN |
denotes |
H27 |
| T13469 |
25700-25703 |
NN |
denotes |
11F |
| T13470 |
25699-25700 |
HYPH |
denotes |
- |
| T13471 |
25707-25729 |
NN |
denotes |
GACCTCAAGAAGGCATGAATAC |
| T13472 |
25704-25705 |
CD |
denotes |
5 |
| T13473 |
25705-25706 |
SYM |
denotes |
′ |
| T13474 |
25706-25707 |
HYPH |
denotes |
- |
| T13475 |
25729-25730 |
HYPH |
denotes |
- |
| T13476 |
25730-25731 |
CD |
denotes |
3 |
| T13477 |
25731-25732 |
SYM |
denotes |
′ |
| T13478 |
25733-25736 |
CC |
denotes |
and |
| T13479 |
25737-25740 |
NN |
denotes |
H27 |
| T13480 |
25741-25743 |
NN |
denotes |
3R |
| T13481 |
25740-25741 |
HYPH |
denotes |
- |
| T13482 |
25747-25767 |
NN |
denotes |
ATGGTGGCCAGGTACACAAG |
| T13483 |
25744-25745 |
CD |
denotes |
5 |
| T13484 |
25745-25746 |
SYM |
denotes |
′ |
| T13485 |
25746-25747 |
HYPH |
denotes |
- |
| T13486 |
25767-25768 |
HYPH |
denotes |
- |
| T13487 |
25768-25769 |
CD |
denotes |
3 |
| T13488 |
25769-25770 |
SYM |
denotes |
′ |
| T13489 |
25771-25772 |
-LRB- |
denotes |
( |
| T13490 |
25779-25781 |
NN |
denotes |
S4 |
| T13491 |
25772-25778 |
NN |
denotes |
Figure |
| T13492 |
25781-25782 |
-RRB- |
denotes |
) |
| T13493 |
25782-25784 |
, |
denotes |
, |
| T13494 |
25784-25787 |
CC |
denotes |
but |
| T13495 |
25788-25790 |
IN |
denotes |
to |
| T13496 |
25804-25808 |
VBN |
denotes |
been |
| T13497 |
25791-25795 |
NN |
denotes |
date |
| T13498 |
25796-25798 |
PRP |
denotes |
we |
| T13499 |
25799-25803 |
VBP |
denotes |
have |
| T13500 |
25809-25815 |
JJ |
denotes |
unable |
| T13501 |
25816-25818 |
TO |
denotes |
to |
| T13502 |
25819-25827 |
VB |
denotes |
identify |
| T13503 |
25828-25831 |
DT |
denotes |
the |
| T13504 |
25832-25842 |
NN |
denotes |
breakpoint |
| T13505 |
25843-25845 |
IN |
denotes |
in |
| T13506 |
25846-25852 |
NN |
denotes |
family |
| T13507 |
25853-25856 |
NN |
denotes |
H33 |
| T13508 |
25856-25857 |
. |
denotes |
. |
| T13807 |
25859-25866 |
NNP |
denotes |
Western |
| T13808 |
25867-25871 |
NN |
denotes |
blot |
| T13809 |
25872-25880 |
NN |
denotes |
analysis |
| T13810 |
25881-25883 |
IN |
denotes |
in |
| T13811 |
25884-25889 |
NN |
denotes |
SCA15 |
| T13812 |
25890-25898 |
NNS |
denotes |
patients |
| T13813 |
25898-25899 |
. |
denotes |
. |
| T13814 |
25899-26129 |
sentence |
denotes |
EBV immortalized lymphoblasts from three affected family members who carry the deletion and one family member without the mutation were used as a readily accessible source of protein; all samples came from members of family AUS1. |
| T13815 |
25900-25903 |
NN |
denotes |
EBV |
| T13816 |
25917-25929 |
NNS |
denotes |
lymphoblasts |
| T13817 |
25904-25916 |
VBN |
denotes |
immortalized |
| T13818 |
26036-26040 |
VBN |
denotes |
used |
| T13819 |
25930-25934 |
IN |
denotes |
from |
| T13820 |
25935-25940 |
CD |
denotes |
three |
| T13821 |
25957-25964 |
NNS |
denotes |
members |
| T13822 |
25941-25949 |
VBN |
denotes |
affected |
| T13823 |
25950-25956 |
NN |
denotes |
family |
| T13824 |
25965-25968 |
WP |
denotes |
who |
| T13825 |
25969-25974 |
VBP |
denotes |
carry |
| T13826 |
25975-25978 |
DT |
denotes |
the |
| T13827 |
25979-25987 |
NN |
denotes |
deletion |
| T13828 |
25988-25991 |
CC |
denotes |
and |
| T13829 |
25992-25995 |
CD |
denotes |
one |
| T13830 |
26003-26009 |
NN |
denotes |
member |
| T13831 |
25996-26002 |
NN |
denotes |
family |
| T13832 |
26010-26017 |
IN |
denotes |
without |
| T13833 |
26018-26021 |
DT |
denotes |
the |
| T13834 |
26022-26030 |
NN |
denotes |
mutation |
| T13835 |
26031-26035 |
VBD |
denotes |
were |
| T13836 |
26096-26100 |
VBD |
denotes |
came |
| T13837 |
26041-26043 |
IN |
denotes |
as |
| T13838 |
26044-26045 |
DT |
denotes |
a |
| T13839 |
26065-26071 |
NN |
denotes |
source |
| T13840 |
26046-26053 |
RB |
denotes |
readily |
| T13841 |
26054-26064 |
JJ |
denotes |
accessible |
| T13842 |
26072-26074 |
IN |
denotes |
of |
| T13843 |
26075-26082 |
NN |
denotes |
protein |
| T13844 |
26082-26083 |
: |
denotes |
; |
| T13845 |
26084-26087 |
DT |
denotes |
all |
| T13846 |
26088-26095 |
NNS |
denotes |
samples |
| T13847 |
26101-26105 |
IN |
denotes |
from |
| T13848 |
26106-26113 |
NNS |
denotes |
members |
| T13849 |
26114-26116 |
IN |
denotes |
of |
| T13850 |
26117-26123 |
NN |
denotes |
family |
| T13851 |
26124-26128 |
NN |
denotes |
AUS1 |
| T13852 |
26128-26129 |
. |
denotes |
. |
| T13853 |
26129-26295 |
sentence |
denotes |
Protein extraction was performed using lysis buffer containing 1× TBS, 1% Triton X-100, and a cocktail of protease inhibitors (Roche) with overnight lysis at −80 °C. |
| T13854 |
26130-26137 |
NN |
denotes |
Protein |
| T13855 |
26138-26148 |
NN |
denotes |
extraction |
| T13856 |
26153-26162 |
VBN |
denotes |
performed |
| T13857 |
26149-26152 |
VBD |
denotes |
was |
| T13858 |
26163-26168 |
VBG |
denotes |
using |
| T13859 |
26169-26174 |
NN |
denotes |
lysis |
| T13860 |
26175-26181 |
NN |
denotes |
buffer |
| T13861 |
26182-26192 |
VBG |
denotes |
containing |
| T13862 |
26193-26194 |
CD |
denotes |
1 |
| T13863 |
26196-26199 |
NN |
denotes |
TBS |
| T13864 |
26194-26195 |
SYM |
denotes |
× |
| T13865 |
26199-26201 |
, |
denotes |
, |
| T13866 |
26201-26202 |
CD |
denotes |
1 |
| T13867 |
26202-26203 |
NN |
denotes |
% |
| T13868 |
26211-26212 |
NN |
denotes |
X |
| T13869 |
26204-26210 |
NN |
denotes |
Triton |
| T13870 |
26212-26213 |
HYPH |
denotes |
- |
| T13871 |
26213-26216 |
CD |
denotes |
100 |
| T13872 |
26216-26218 |
, |
denotes |
, |
| T13873 |
26218-26221 |
CC |
denotes |
and |
| T13874 |
26222-26223 |
DT |
denotes |
a |
| T13875 |
26224-26232 |
NN |
denotes |
cocktail |
| T13876 |
26233-26235 |
IN |
denotes |
of |
| T13877 |
26236-26244 |
NN |
denotes |
protease |
| T13878 |
26245-26255 |
NNS |
denotes |
inhibitors |
| T13879 |
26256-26257 |
-LRB- |
denotes |
( |
| T13880 |
26257-26262 |
NNP |
denotes |
Roche |
| T13881 |
26262-26263 |
-RRB- |
denotes |
) |
| T13882 |
26264-26268 |
IN |
denotes |
with |
| T13883 |
26269-26278 |
JJ |
denotes |
overnight |
| T13884 |
26279-26284 |
NN |
denotes |
lysis |
| T13885 |
26285-26287 |
IN |
denotes |
at |
| T13886 |
26288-26289 |
SYM |
denotes |
− |
| T13887 |
26289-26291 |
CD |
denotes |
80 |
| T13888 |
26292-26294 |
NN |
denotes |
°C |
| T13889 |
26294-26295 |
. |
denotes |
. |
| T13890 |
26295-26472 |
sentence |
denotes |
Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (NuPAGE, Invitrogen) for SDS-PAGE and immunoblotting. |
| T13891 |
26296-26307 |
NNS |
denotes |
Homogenates |
| T13892 |
26313-26320 |
VBN |
denotes |
diluted |
| T13893 |
26308-26312 |
VBD |
denotes |
were |
| T13894 |
26321-26334 |
RB |
denotes |
appropriately |
| T13895 |
26334-26336 |
, |
denotes |
, |
| T13896 |
26336-26341 |
VBN |
denotes |
mixed |
| T13897 |
26342-26346 |
IN |
denotes |
with |
| T13898 |
26347-26348 |
CD |
denotes |
4 |
| T13899 |
26366-26372 |
NN |
denotes |
buffer |
| T13900 |
26348-26349 |
SYM |
denotes |
× |
| T13901 |
26350-26358 |
VBG |
denotes |
reducing |
| T13902 |
26359-26365 |
NN |
denotes |
sample |
| T13903 |
26372-26374 |
, |
denotes |
, |
| T13904 |
26374-26377 |
CC |
denotes |
and |
| T13905 |
26378-26384 |
VBN |
denotes |
loaded |
| T13906 |
26385-26389 |
IN |
denotes |
onto |
| T13907 |
26390-26391 |
CD |
denotes |
4 |
| T13908 |
26391-26392 |
NN |
denotes |
% |
| T13909 |
26414-26418 |
NNS |
denotes |
gels |
| T13910 |
26392-26393 |
SYM |
denotes |
– |
| T13911 |
26395-26396 |
NN |
denotes |
% |
| T13912 |
26393-26395 |
CD |
denotes |
12 |
| T13913 |
26397-26404 |
JJ |
denotes |
precast |
| T13914 |
26405-26413 |
NN |
denotes |
gradient |
| T13915 |
26419-26420 |
-LRB- |
denotes |
( |
| T13916 |
26420-26426 |
NN |
denotes |
NuPAGE |
| T13917 |
26426-26428 |
, |
denotes |
, |
| T13918 |
26428-26438 |
NNP |
denotes |
Invitrogen |
| T13919 |
26438-26439 |
-RRB- |
denotes |
) |
| T13920 |
26440-26443 |
IN |
denotes |
for |
| T13921 |
26444-26447 |
NN |
denotes |
SDS |
| T13922 |
26448-26452 |
NN |
denotes |
PAGE |
| T13923 |
26447-26448 |
HYPH |
denotes |
- |
| T13924 |
26453-26456 |
CC |
denotes |
and |
| T13925 |
26457-26471 |
NN |
denotes |
immunoblotting |
| T13926 |
26471-26472 |
. |
denotes |
. |
| T13927 |
26472-26568 |
sentence |
denotes |
The antibodies to ITPR1 (1:1,000) and ACTB (1:5,000) were used as recommended by manufacturers. |
| T13928 |
26473-26476 |
DT |
denotes |
The |
| T13929 |
26477-26487 |
NNS |
denotes |
antibodies |
| T13930 |
26531-26535 |
VBN |
denotes |
used |
| T13931 |
26488-26490 |
IN |
denotes |
to |
| T13932 |
26491-26496 |
NN |
denotes |
ITPR1 |
| T13933 |
26497-26498 |
-LRB- |
denotes |
( |
| T13934 |
26498-26499 |
CD |
denotes |
1 |
| T13935 |
26499-26500 |
SYM |
denotes |
: |
| T13936 |
26500-26505 |
CD |
denotes |
1,000 |
| T13937 |
26505-26506 |
-RRB- |
denotes |
) |
| T13938 |
26507-26510 |
CC |
denotes |
and |
| T13939 |
26511-26515 |
NN |
denotes |
ACTB |
| T13940 |
26516-26517 |
-LRB- |
denotes |
( |
| T13941 |
26517-26518 |
CD |
denotes |
1 |
| T13942 |
26518-26519 |
SYM |
denotes |
: |
| T13943 |
26519-26524 |
CD |
denotes |
5,000 |
| T13944 |
26524-26525 |
-RRB- |
denotes |
) |
| T13945 |
26526-26530 |
VBD |
denotes |
were |
| T13946 |
26536-26538 |
IN |
denotes |
as |
| T13947 |
26539-26550 |
VBN |
denotes |
recommended |
| T13948 |
26551-26553 |
IN |
denotes |
by |
| T13949 |
26554-26567 |
NNS |
denotes |
manufacturers |
| T13950 |
26567-26568 |
. |
denotes |
. |
| T14399 |
3947-3967 |
NN |
denotes |
Immunohistochemistry |
| T14400 |
3968-3971 |
CC |
denotes |
and |
| T14401 |
3972-3979 |
NNP |
denotes |
Western |
| T14402 |
3980-3984 |
NN |
denotes |
Blot |
| T14403 |
3985-3993 |
NN |
denotes |
Analysis |
| T14404 |
3994-3996 |
IN |
denotes |
of |
| T14405 |
3997-4002 |
NN |
denotes |
ITPR1 |
| T14406 |
4011-4017 |
NNS |
denotes |
Levels |
| T14407 |
4003-4010 |
NN |
denotes |
Protein |
| T14408 |
4018-4020 |
IN |
denotes |
in |
| T14409 |
4021-4026 |
NN |
denotes |
Mouse |
| T14410 |
4027-4037 |
NN |
denotes |
Cerebellum |
| T14411 |
4037-4236 |
sentence |
denotes |
(A–F) Immunohistochemistry of cerebellum from a wild-type mouse (A and D), a mouse heterozygous for the Itpr1 18-bp deletion (B and E), and a mouse homozygous for the 18-bp Itpr1 deletion (C and F). |
| T14412 |
4038-4039 |
-LRB- |
denotes |
( |
| T14413 |
4039-4040 |
LS |
denotes |
A |
| T14414 |
4044-4064 |
NN |
denotes |
Immunohistochemistry |
| T14415 |
4040-4041 |
SYM |
denotes |
– |
| T14416 |
4041-4042 |
LS |
denotes |
F |
| T14417 |
4042-4043 |
-RRB- |
denotes |
) |
| T14418 |
4065-4067 |
IN |
denotes |
of |
| T14419 |
4068-4078 |
NN |
denotes |
cerebellum |
| T14420 |
4079-4083 |
IN |
denotes |
from |
| T14421 |
4084-4085 |
DT |
denotes |
a |
| T14422 |
4096-4101 |
NN |
denotes |
mouse |
| T14423 |
4086-4090 |
JJ |
denotes |
wild |
| T14424 |
4091-4095 |
NN |
denotes |
type |
| T14425 |
4090-4091 |
HYPH |
denotes |
- |
| T14426 |
4102-4103 |
-LRB- |
denotes |
( |
| T14427 |
4103-4104 |
NN |
denotes |
A |
| T14428 |
4105-4108 |
CC |
denotes |
and |
| T14429 |
4109-4110 |
NN |
denotes |
D |
| T14430 |
4110-4111 |
-RRB- |
denotes |
) |
| T14431 |
4111-4113 |
, |
denotes |
, |
| T14432 |
4113-4114 |
DT |
denotes |
a |
| T14433 |
4115-4120 |
NN |
denotes |
mouse |
| T14434 |
4121-4133 |
JJ |
denotes |
heterozygous |
| T14435 |
4134-4137 |
IN |
denotes |
for |
| T14436 |
4138-4141 |
DT |
denotes |
the |
| T14437 |
4154-4162 |
NN |
denotes |
deletion |
| T14438 |
4142-4147 |
NN |
denotes |
Itpr1 |
| T14439 |
4148-4150 |
CD |
denotes |
18 |
| T14440 |
4151-4153 |
NN |
denotes |
bp |
| T14441 |
4150-4151 |
HYPH |
denotes |
- |
| T14442 |
4163-4164 |
-LRB- |
denotes |
( |
| T14443 |
4164-4165 |
NN |
denotes |
B |
| T14444 |
4166-4169 |
CC |
denotes |
and |
| T14445 |
4170-4171 |
NN |
denotes |
E |
| T14446 |
4171-4172 |
-RRB- |
denotes |
) |
| T14447 |
4172-4174 |
, |
denotes |
, |
| T14448 |
4174-4177 |
CC |
denotes |
and |
| T14449 |
4178-4179 |
DT |
denotes |
a |
| T14450 |
4180-4185 |
NN |
denotes |
mouse |
| T14451 |
4186-4196 |
JJ |
denotes |
homozygous |
| T14452 |
4197-4200 |
IN |
denotes |
for |
| T14453 |
4201-4204 |
DT |
denotes |
the |
| T14454 |
4217-4225 |
NN |
denotes |
deletion |
| T14455 |
4205-4207 |
CD |
denotes |
18 |
| T14456 |
4208-4210 |
NN |
denotes |
bp |
| T14457 |
4207-4208 |
HYPH |
denotes |
- |
| T14458 |
4211-4216 |
NN |
denotes |
Itpr1 |
| T14459 |
4226-4227 |
-LRB- |
denotes |
( |
| T14460 |
4227-4228 |
NN |
denotes |
C |
| T14461 |
4229-4232 |
CC |
denotes |
and |
| T14462 |
4233-4234 |
NN |
denotes |
F |
| T14463 |
4234-4235 |
-RRB- |
denotes |
) |
| T14464 |
4235-4236 |
. |
denotes |
. |
| T14465 |
4236-4433 |
sentence |
denotes |
(A–C) Immunohistochemistry using polyclonal Itpr1 anti-rabbit antibody (1:2,000; Alexa Fluor 555); (D–F) immunohistochemistry using monoclonal Calb1 anti-mouse antibody (1:6,000; Alexa Fluor 488). |
| T14466 |
4237-4238 |
-LRB- |
denotes |
( |
| T14467 |
4238-4239 |
LS |
denotes |
A |
| T14468 |
4243-4263 |
NN |
denotes |
Immunohistochemistry |
| T14469 |
4239-4240 |
SYM |
denotes |
– |
| T14470 |
4240-4241 |
LS |
denotes |
C |
| T14471 |
4241-4242 |
-RRB- |
denotes |
) |
| T14472 |
4264-4269 |
VBG |
denotes |
using |
| T14473 |
4270-4280 |
JJ |
denotes |
polyclonal |
| T14474 |
4299-4307 |
NN |
denotes |
antibody |
| T14475 |
4281-4286 |
NN |
denotes |
Itpr1 |
| T14476 |
4287-4298 |
JJ |
denotes |
anti-rabbit |
| T14477 |
4308-4309 |
-LRB- |
denotes |
( |
| T14478 |
4324-4329 |
NNP |
denotes |
Fluor |
| T14479 |
4309-4310 |
CD |
denotes |
1 |
| T14480 |
4310-4311 |
SYM |
denotes |
: |
| T14481 |
4311-4316 |
CD |
denotes |
2,000 |
| T14482 |
4316-4317 |
: |
denotes |
; |
| T14483 |
4318-4323 |
NNP |
denotes |
Alexa |
| T14484 |
4330-4333 |
CD |
denotes |
555 |
| T14485 |
4333-4334 |
-RRB- |
denotes |
) |
| T14486 |
4334-4335 |
: |
denotes |
; |
| T14487 |
4336-4337 |
-LRB- |
denotes |
( |
| T14488 |
4337-4338 |
LS |
denotes |
D |
| T14489 |
4342-4362 |
NN |
denotes |
immunohistochemistry |
| T14490 |
4338-4339 |
SYM |
denotes |
– |
| T14491 |
4339-4340 |
LS |
denotes |
F |
| T14492 |
4340-4341 |
-RRB- |
denotes |
) |
| T14493 |
4363-4368 |
VBG |
denotes |
using |
| T14494 |
4369-4379 |
JJ |
denotes |
monoclonal |
| T14495 |
4397-4405 |
NN |
denotes |
antibody |
| T14496 |
4380-4385 |
NN |
denotes |
Calb1 |
| T14497 |
4386-4396 |
JJ |
denotes |
anti-mouse |
| T14498 |
4406-4407 |
-LRB- |
denotes |
( |
| T14499 |
4422-4427 |
NNP |
denotes |
Fluor |
| T14500 |
4407-4408 |
CD |
denotes |
1 |
| T14501 |
4408-4409 |
SYM |
denotes |
: |
| T14502 |
4409-4414 |
CD |
denotes |
6,000 |
| T14503 |
4414-4415 |
: |
denotes |
; |
| T14504 |
4416-4421 |
NNP |
denotes |
Alexa |
| T14505 |
4428-4431 |
CD |
denotes |
488 |
| T14506 |
4431-4432 |
-RRB- |
denotes |
) |
| T14507 |
4432-4433 |
. |
denotes |
. |
| T14508 |
4433-4459 |
sentence |
denotes |
Scale bars denote 100 μm. |
| T14509 |
4434-4439 |
NN |
denotes |
Scale |
| T14510 |
4440-4444 |
NNS |
denotes |
bars |
| T14511 |
4445-4451 |
VBP |
denotes |
denote |
| T14512 |
4452-4455 |
CD |
denotes |
100 |
| T14513 |
4456-4458 |
NN |
denotes |
μm |
| T14514 |
4458-4459 |
. |
denotes |
. |
| T14515 |
4459-4533 |
sentence |
denotes |
As previously described, Iptr1 is highly expressed in the Purkinje cells. |
| T14516 |
4460-4462 |
IN |
denotes |
As |
| T14517 |
4474-4483 |
VBN |
denotes |
described |
| T14518 |
4463-4473 |
RB |
denotes |
previously |
| T14519 |
4501-4510 |
VBN |
denotes |
expressed |
| T14520 |
4483-4485 |
, |
denotes |
, |
| T14521 |
4485-4490 |
NN |
denotes |
Iptr1 |
| T14522 |
4491-4493 |
VBZ |
denotes |
is |
| T14523 |
4494-4500 |
RB |
denotes |
highly |
| T14524 |
4511-4513 |
IN |
denotes |
in |
| T14525 |
4514-4517 |
DT |
denotes |
the |
| T14526 |
4527-4532 |
NNS |
denotes |
cells |
| T14527 |
4518-4526 |
NNP |
denotes |
Purkinje |
| T14528 |
4532-4533 |
. |
denotes |
. |
| T14529 |
4533-4646 |
sentence |
denotes |
Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice. |
| T14530 |
4534-4541 |
RB |
denotes |
Notably |
| T14531 |
4549-4556 |
VBZ |
denotes |
appears |
| T14532 |
4541-4543 |
, |
denotes |
, |
| T14533 |
4543-4548 |
EX |
denotes |
there |
| T14534 |
4557-4559 |
TO |
denotes |
to |
| T14535 |
4560-4562 |
VB |
denotes |
be |
| T14536 |
4563-4572 |
VBN |
denotes |
decreased |
| T14537 |
4573-4589 |
NN |
denotes |
immunoreactivity |
| T14538 |
4590-4592 |
IN |
denotes |
to |
| T14539 |
4593-4598 |
NN |
denotes |
Itpr1 |
| T14540 |
4599-4601 |
IN |
denotes |
in |
| T14541 |
4602-4605 |
DT |
denotes |
the |
| T14542 |
4641-4645 |
NNS |
denotes |
mice |
| T14543 |
4606-4618 |
JJ |
denotes |
heterozygous |
| T14544 |
4619-4622 |
CC |
denotes |
and |
| T14545 |
4623-4633 |
JJ |
denotes |
homozygous |
| T14546 |
4634-4640 |
NN |
denotes |
mutant |
| T14547 |
4645-4646 |
. |
denotes |
. |
| T14548 |
4646-4897 |
sentence |
denotes |
(G) Western blot performed to examine Itpr1 levels in whole brain from wild-type, Itpr1wt/Δ18, and Itpr1Δ18/Δ18 mice; this clearly shows a reduction of Itpr1 in brain tissue from Itpr1wt/Δ18 mice and a greater reduction of Itpr1 in Itpr1Δ18/Δ18 mice. |
| T14549 |
4647-4648 |
-LRB- |
denotes |
( |
| T14550 |
4648-4649 |
LS |
denotes |
G |
| T14551 |
4778-4783 |
VBZ |
denotes |
shows |
| T14552 |
4649-4650 |
-RRB- |
denotes |
) |
| T14553 |
4651-4658 |
NNP |
denotes |
Western |
| T14554 |
4659-4663 |
NN |
denotes |
blot |
| T14555 |
4664-4673 |
VBN |
denotes |
performed |
| T14556 |
4674-4676 |
TO |
denotes |
to |
| T14557 |
4677-4684 |
VB |
denotes |
examine |
| T14558 |
4685-4690 |
NN |
denotes |
Itpr1 |
| T14559 |
4691-4697 |
NNS |
denotes |
levels |
| T14560 |
4698-4700 |
IN |
denotes |
in |
| T14561 |
4701-4706 |
JJ |
denotes |
whole |
| T14562 |
4707-4712 |
NN |
denotes |
brain |
| T14563 |
4713-4717 |
IN |
denotes |
from |
| T14564 |
4718-4722 |
JJ |
denotes |
wild |
| T14565 |
4723-4727 |
NN |
denotes |
type |
| T14566 |
4722-4723 |
HYPH |
denotes |
- |
| T14567 |
4759-4763 |
NNS |
denotes |
mice |
| T14568 |
4727-4729 |
, |
denotes |
, |
| T14569 |
4729-4736 |
NN |
denotes |
Itpr1wt |
| T14570 |
4737-4740 |
NN |
denotes |
Δ18 |
| T14571 |
4736-4737 |
HYPH |
denotes |
/ |
| T14572 |
4740-4742 |
, |
denotes |
, |
| T14573 |
4742-4745 |
CC |
denotes |
and |
| T14574 |
4746-4754 |
NN |
denotes |
Itpr1Δ18 |
| T14575 |
4755-4758 |
NN |
denotes |
Δ18 |
| T14576 |
4754-4755 |
HYPH |
denotes |
/ |
| T14577 |
4763-4764 |
: |
denotes |
; |
| T14578 |
4765-4769 |
DT |
denotes |
this |
| T14579 |
4770-4777 |
RB |
denotes |
clearly |
| T14580 |
4784-4785 |
DT |
denotes |
a |
| T14581 |
4786-4795 |
NN |
denotes |
reduction |
| T14582 |
4796-4798 |
IN |
denotes |
of |
| T14583 |
4799-4804 |
NN |
denotes |
Itpr1 |
| T14584 |
4805-4807 |
IN |
denotes |
in |
| T14585 |
4808-4813 |
NN |
denotes |
brain |
| T14586 |
4814-4820 |
NN |
denotes |
tissue |
| T14587 |
4821-4825 |
IN |
denotes |
from |
| T14588 |
4826-4833 |
NN |
denotes |
Itpr1wt |
| T14589 |
4834-4837 |
NN |
denotes |
Δ18 |
| T14590 |
4833-4834 |
HYPH |
denotes |
/ |
| T14591 |
4838-4842 |
NNS |
denotes |
mice |
| T14592 |
4843-4846 |
CC |
denotes |
and |
| T14593 |
4847-4848 |
DT |
denotes |
a |
| T14594 |
4857-4866 |
NN |
denotes |
reduction |
| T14595 |
4849-4856 |
JJR |
denotes |
greater |
| T14596 |
4867-4869 |
IN |
denotes |
of |
| T14597 |
4870-4875 |
NN |
denotes |
Itpr1 |
| T14598 |
4876-4878 |
IN |
denotes |
in |
| T14599 |
4879-4887 |
NN |
denotes |
Itpr1Δ18 |
| T14600 |
4888-4891 |
NN |
denotes |
Δ18 |
| T14601 |
4887-4888 |
HYPH |
denotes |
/ |
| T14602 |
4892-4896 |
NNS |
denotes |
mice |
| T14603 |
4896-4897 |
. |
denotes |
. |
| T15069 |
7530-7537 |
NNS |
denotes |
Metrics |
| T15070 |
7538-7545 |
VBN |
denotes |
Derived |
| T15071 |
7546-7550 |
IN |
denotes |
from |
| T15072 |
7551-7559 |
NN |
denotes |
Analysis |
| T15073 |
7560-7562 |
IN |
denotes |
of |
| T15074 |
7563-7566 |
NN |
denotes |
DNA |
| T15075 |
7567-7571 |
IN |
denotes |
from |
| T15076 |
7572-7580 |
VBN |
denotes |
Affected |
| T15077 |
7588-7594 |
NN |
denotes |
Member |
| T15078 |
7581-7587 |
NN |
denotes |
Family |
| T15079 |
7595-7596 |
CD |
denotes |
7 |
| T15080 |
7597-7602 |
VBG |
denotes |
Using |
| T15081 |
7603-7611 |
NNP |
denotes |
Illumina |
| T15082 |
7621-7632 |
NNP |
denotes |
HumanHap550 |
| T15083 |
7612-7620 |
NNP |
denotes |
Infinium |
| T15084 |
7644-7649 |
NNS |
denotes |
Chips |
| T15085 |
7633-7643 |
NN |
denotes |
Genotyping |
| T15086 |
7649-7781 |
sentence |
denotes |
The upper and lower plots are log R ratio and B allele frequency, respectively, at an ~800-kb segment on the p arm of Chromosome 3. |
| T15087 |
7650-7653 |
DT |
denotes |
The |
| T15088 |
7670-7675 |
NNS |
denotes |
plots |
| T15089 |
7654-7659 |
JJ |
denotes |
upper |
| T15090 |
7660-7663 |
CC |
denotes |
and |
| T15091 |
7664-7669 |
JJ |
denotes |
lower |
| T15092 |
7676-7679 |
VBP |
denotes |
are |
| T15093 |
7680-7683 |
NN |
denotes |
log |
| T15094 |
7684-7685 |
NN |
denotes |
R |
| T15095 |
7686-7691 |
NN |
denotes |
ratio |
| T15096 |
7692-7695 |
CC |
denotes |
and |
| T15097 |
7696-7697 |
NN |
denotes |
B |
| T15098 |
7698-7704 |
NN |
denotes |
allele |
| T15099 |
7705-7714 |
NN |
denotes |
frequency |
| T15100 |
7714-7716 |
, |
denotes |
, |
| T15101 |
7716-7728 |
RB |
denotes |
respectively |
| T15102 |
7728-7730 |
, |
denotes |
, |
| T15103 |
7730-7732 |
IN |
denotes |
at |
| T15104 |
7733-7735 |
DT |
denotes |
an |
| T15105 |
7744-7751 |
NN |
denotes |
segment |
| T15106 |
7736-7737 |
SYM |
denotes |
~ |
| T15107 |
7737-7740 |
CD |
denotes |
800 |
| T15108 |
7741-7743 |
NN |
denotes |
kb |
| T15109 |
7740-7741 |
HYPH |
denotes |
- |
| T15110 |
7752-7754 |
IN |
denotes |
on |
| T15111 |
7755-7758 |
DT |
denotes |
the |
| T15112 |
7761-7764 |
NN |
denotes |
arm |
| T15113 |
7759-7760 |
NN |
denotes |
p |
| T15114 |
7765-7767 |
IN |
denotes |
of |
| T15115 |
7768-7778 |
NN |
denotes |
Chromosome |
| T15116 |
7779-7780 |
CD |
denotes |
3 |
| T15117 |
7780-7781 |
. |
denotes |
. |
| T15118 |
7781-7945 |
sentence |
denotes |
Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus. |
| T15119 |
7782-7785 |
NN |
denotes |
Log |
| T15120 |
7786-7787 |
NN |
denotes |
R |
| T15121 |
7788-7793 |
NN |
denotes |
ratio |
| T15122 |
7794-7796 |
VBZ |
denotes |
is |
| T15123 |
7797-7800 |
DT |
denotes |
the |
| T15124 |
7801-7806 |
NN |
denotes |
ratio |
| T15125 |
7807-7809 |
IN |
denotes |
of |
| T15126 |
7810-7820 |
VBN |
denotes |
normalized |
| T15127 |
7831-7832 |
NN |
denotes |
R |
| T15128 |
7820-7822 |
, |
denotes |
, |
| T15129 |
7822-7830 |
VBN |
denotes |
observed |
| T15130 |
7833-7835 |
IN |
denotes |
to |
| T15131 |
7836-7844 |
VBN |
denotes |
expected |
| T15132 |
7845-7846 |
NN |
denotes |
R |
| T15133 |
7847-7850 |
IN |
denotes |
for |
| T15134 |
7851-7855 |
DT |
denotes |
each |
| T15135 |
7856-7859 |
NN |
denotes |
SNP |
| T15136 |
7860-7861 |
-LRB- |
denotes |
( |
| T15137 |
7870-7872 |
VBZ |
denotes |
is |
| T15138 |
7861-7865 |
DT |
denotes |
each |
| T15139 |
7866-7869 |
NN |
denotes |
SNP |
| T15140 |
7873-7874 |
DT |
denotes |
a |
| T15141 |
7880-7883 |
NN |
denotes |
dot |
| T15142 |
7875-7879 |
JJ |
denotes |
blue |
| T15143 |
7883-7884 |
-RRB- |
denotes |
) |
| T15144 |
7885-7888 |
CC |
denotes |
and |
| T15145 |
7889-7893 |
RB |
denotes |
thus |
| T15146 |
7894-7900 |
VBZ |
denotes |
serves |
| T15147 |
7901-7903 |
IN |
denotes |
as |
| T15148 |
7904-7905 |
DT |
denotes |
a |
| T15149 |
7906-7915 |
NN |
denotes |
surrogate |
| T15150 |
7916-7918 |
IN |
denotes |
of |
| T15151 |
7919-7923 |
NN |
denotes |
copy |
| T15152 |
7924-7930 |
NN |
denotes |
number |
| T15153 |
7931-7933 |
IN |
denotes |
at |
| T15154 |
7934-7938 |
DT |
denotes |
each |
| T15155 |
7939-7944 |
NN |
denotes |
locus |
| T15156 |
7944-7945 |
. |
denotes |
. |
| T15157 |
7945-8083 |
sentence |
denotes |
B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot). |
| T15158 |
7946-7947 |
NN |
denotes |
B |
| T15159 |
7948-7954 |
NN |
denotes |
allele |
| T15160 |
7955-7964 |
NN |
denotes |
frequency |
| T15161 |
7965-7967 |
VBZ |
denotes |
is |
| T15162 |
7968-7969 |
DT |
denotes |
a |
| T15163 |
7970-7977 |
NN |
denotes |
measure |
| T15164 |
7978-7980 |
IN |
denotes |
of |
| T15165 |
7981-7984 |
DT |
denotes |
the |
| T15166 |
7985-7991 |
NN |
denotes |
number |
| T15167 |
7992-7994 |
IN |
denotes |
of |
| T15168 |
7995-8000 |
NNS |
denotes |
times |
| T15169 |
8001-8004 |
DT |
denotes |
the |
| T15170 |
8012-8019 |
NNS |
denotes |
alleles |
| T15171 |
8005-8006 |
NN |
denotes |
A |
| T15172 |
8007-8009 |
CC |
denotes |
or |
| T15173 |
8010-8011 |
NN |
denotes |
B |
| T15174 |
8024-8032 |
VBN |
denotes |
detected |
| T15175 |
8020-8023 |
VBP |
denotes |
are |
| T15176 |
8033-8035 |
IN |
denotes |
at |
| T15177 |
8036-8040 |
DT |
denotes |
each |
| T15178 |
8041-8046 |
NN |
denotes |
locus |
| T15179 |
8047-8048 |
-LRB- |
denotes |
( |
| T15180 |
8060-8067 |
VBN |
denotes |
denoted |
| T15181 |
8048-8052 |
DT |
denotes |
each |
| T15182 |
8053-8056 |
NN |
denotes |
SNP |
| T15183 |
8057-8059 |
VBZ |
denotes |
is |
| T15184 |
8068-8070 |
IN |
denotes |
by |
| T15185 |
8071-8072 |
DT |
denotes |
a |
| T15186 |
8078-8081 |
NN |
denotes |
dot |
| T15187 |
8073-8077 |
JJ |
denotes |
blue |
| T15188 |
8081-8082 |
-RRB- |
denotes |
) |
| T15189 |
8082-8083 |
. |
denotes |
. |
| T15190 |
8083-8301 |
sentence |
denotes |
Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes. |
| T15191 |
8084-8088 |
RB |
denotes |
Thus |
| T15192 |
8196-8199 |
VBP |
denotes |
are |
| T15193 |
8088-8090 |
, |
denotes |
, |
| T15194 |
8090-8094 |
NNS |
denotes |
SNPs |
| T15195 |
8128-8131 |
VBP |
denotes |
are |
| T15196 |
8095-8099 |
IN |
denotes |
with |
| T15197 |
8100-8101 |
DT |
denotes |
a |
| T15198 |
8111-8120 |
NN |
denotes |
frequency |
| T15199 |
8102-8103 |
NN |
denotes |
B |
| T15200 |
8104-8110 |
NN |
denotes |
allele |
| T15201 |
8121-8123 |
IN |
denotes |
of |
| T15202 |
8124-8127 |
CD |
denotes |
one |
| T15203 |
8132-8140 |
JJ |
denotes |
apparent |
| T15204 |
8145-8156 |
NNS |
denotes |
homozygotes |
| T15205 |
8141-8142 |
NN |
denotes |
B |
| T15206 |
8143-8144 |
NN |
denotes |
B |
| T15207 |
8142-8143 |
HYPH |
denotes |
/ |
| T15208 |
8156-8158 |
, |
denotes |
, |
| T15209 |
8158-8162 |
NNS |
denotes |
SNPs |
| T15210 |
8163-8167 |
IN |
denotes |
with |
| T15211 |
8168-8169 |
DT |
denotes |
a |
| T15212 |
8179-8188 |
NN |
denotes |
frequency |
| T15213 |
8170-8171 |
NN |
denotes |
B |
| T15214 |
8172-8178 |
NN |
denotes |
allele |
| T15215 |
8189-8191 |
IN |
denotes |
of |
| T15216 |
8192-8195 |
CD |
denotes |
0.5 |
| T15217 |
8200-8208 |
JJ |
denotes |
apparent |
| T15218 |
8213-8226 |
NNS |
denotes |
heterozygotes |
| T15219 |
8209-8210 |
NN |
denotes |
A |
| T15220 |
8211-8212 |
NN |
denotes |
B |
| T15221 |
8210-8211 |
HYPH |
denotes |
/ |
| T15222 |
8226-8228 |
, |
denotes |
, |
| T15223 |
8228-8231 |
CC |
denotes |
and |
| T15224 |
8232-8237 |
DT |
denotes |
those |
| T15225 |
8272-8275 |
VBP |
denotes |
are |
| T15226 |
8238-8242 |
IN |
denotes |
with |
| T15227 |
8243-8244 |
DT |
denotes |
a |
| T15228 |
8254-8263 |
NN |
denotes |
frequency |
| T15229 |
8245-8246 |
NN |
denotes |
B |
| T15230 |
8247-8253 |
NN |
denotes |
allele |
| T15231 |
8264-8266 |
IN |
denotes |
of |
| T15232 |
8267-8271 |
CD |
denotes |
zero |
| T15233 |
8276-8284 |
JJ |
denotes |
apparent |
| T15234 |
8289-8300 |
NNS |
denotes |
homozygotes |
| T15235 |
8285-8286 |
NN |
denotes |
A |
| T15236 |
8287-8288 |
NN |
denotes |
A |
| T15237 |
8286-8287 |
HYPH |
denotes |
/ |
| T15238 |
8300-8301 |
. |
denotes |
. |
| T15239 |
8301-8437 |
sentence |
denotes |
Clearly, these plots show a contiguous region ~200 kb long with decreased copy number and apparent homozygosity (bounded by a red box). |
| T15240 |
8302-8309 |
RB |
denotes |
Clearly |
| T15241 |
8323-8327 |
VBP |
denotes |
show |
| T15242 |
8309-8311 |
, |
denotes |
, |
| T15243 |
8311-8316 |
DT |
denotes |
these |
| T15244 |
8317-8322 |
NNS |
denotes |
plots |
| T15245 |
8328-8329 |
DT |
denotes |
a |
| T15246 |
8341-8347 |
NN |
denotes |
region |
| T15247 |
8330-8340 |
JJ |
denotes |
contiguous |
| T15248 |
8348-8349 |
SYM |
denotes |
~ |
| T15249 |
8349-8352 |
CD |
denotes |
200 |
| T15250 |
8353-8355 |
NN |
denotes |
kb |
| T15251 |
8356-8360 |
JJ |
denotes |
long |
| T15252 |
8361-8365 |
IN |
denotes |
with |
| T15253 |
8366-8375 |
VBN |
denotes |
decreased |
| T15254 |
8381-8387 |
NN |
denotes |
number |
| T15255 |
8376-8380 |
NN |
denotes |
copy |
| T15256 |
8388-8391 |
CC |
denotes |
and |
| T15257 |
8392-8400 |
JJ |
denotes |
apparent |
| T15258 |
8401-8413 |
NN |
denotes |
homozygosity |
| T15259 |
8414-8415 |
-LRB- |
denotes |
( |
| T15260 |
8415-8422 |
VBN |
denotes |
bounded |
| T15261 |
8423-8425 |
IN |
denotes |
by |
| T15262 |
8426-8427 |
DT |
denotes |
a |
| T15263 |
8432-8435 |
NN |
denotes |
box |
| T15264 |
8428-8431 |
JJ |
denotes |
red |
| T15265 |
8435-8436 |
-RRB- |
denotes |
) |
| T15266 |
8436-8437 |
. |
denotes |
. |
| T15267 |
8437-8533 |
sentence |
denotes |
As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15]. |
| T15268 |
8438-8440 |
IN |
denotes |
As |
| T15269 |
8449-8461 |
VBN |
denotes |
demonstrated |
| T15270 |
8441-8443 |
PRP |
denotes |
we |
| T15271 |
8444-8448 |
VBP |
denotes |
have |
| T15272 |
8479-8481 |
VBZ |
denotes |
is |
| T15273 |
8462-8472 |
RB |
denotes |
previously |
| T15274 |
8472-8474 |
, |
denotes |
, |
| T15275 |
8474-8478 |
DT |
denotes |
this |
| T15276 |
8482-8492 |
JJ |
denotes |
indicative |
| T15277 |
8493-8495 |
IN |
denotes |
of |
| T15278 |
8496-8497 |
DT |
denotes |
a |
| T15279 |
8519-8527 |
NN |
denotes |
deletion |
| T15280 |
8498-8510 |
JJ |
denotes |
heterozygous |
| T15281 |
8511-8518 |
JJ |
denotes |
genomic |
| T15282 |
8528-8529 |
-LRB- |
denotes |
[ |
| T15283 |
8529-8531 |
CD |
denotes |
15 |
| T15284 |
8531-8532 |
-RRB- |
denotes |
] |
| T15285 |
8532-8533 |
. |
denotes |
. |
| T15286 |
8533-8633 |
sentence |
denotes |
Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1. |
| T15287 |
8534-8539 |
IN |
denotes |
Below |
| T15288 |
8552-8554 |
VBZ |
denotes |
is |
| T15289 |
8540-8545 |
DT |
denotes |
these |
| T15290 |
8546-8551 |
NNS |
denotes |
plots |
| T15291 |
8555-8556 |
DT |
denotes |
a |
| T15292 |
8557-8566 |
NN |
denotes |
schematic |
| T15293 |
8567-8569 |
IN |
denotes |
of |
| T15294 |
8570-8573 |
DT |
denotes |
the |
| T15295 |
8584-8589 |
NNS |
denotes |
genes |
| T15296 |
8574-8577 |
CD |
denotes |
two |
| T15297 |
8578-8583 |
VBN |
denotes |
known |
| T15298 |
8590-8598 |
VBN |
denotes |
affected |
| T15299 |
8599-8601 |
IN |
denotes |
by |
| T15300 |
8602-8606 |
DT |
denotes |
this |
| T15301 |
8607-8615 |
NN |
denotes |
deletion |
| T15302 |
8615-8617 |
, |
denotes |
, |
| T15303 |
8617-8622 |
NN |
denotes |
ITPR1 |
| T15304 |
8623-8626 |
CC |
denotes |
and |
| T15305 |
8627-8632 |
NN |
denotes |
SUMF1 |
| T15306 |
8632-8633 |
. |
denotes |
. |
| T16338 |
14271-14278 |
IN |
denotes |
against |
| T15781 |
8644-8652 |
NN |
denotes |
Mutation |
| T15782 |
8653-8661 |
NN |
denotes |
Analysis |
| T15783 |
8662-8664 |
IN |
denotes |
in |
| T15784 |
8665-8668 |
DT |
denotes |
the |
| T15785 |
8686-8692 |
NN |
denotes |
Family |
| T15786 |
8669-8679 |
JJ |
denotes |
Australian |
| T15787 |
8680-8685 |
NN |
denotes |
SCA15 |
| T15788 |
8692-8719 |
sentence |
denotes |
(Top) Pedigree of kindred. |
| T15789 |
8693-8694 |
-LRB- |
denotes |
( |
| T15790 |
8694-8697 |
NN |
denotes |
Top |
| T15791 |
8699-8707 |
NN |
denotes |
Pedigree |
| T15792 |
8697-8698 |
-RRB- |
denotes |
) |
| T15793 |
8708-8710 |
IN |
denotes |
of |
| T15794 |
8711-8718 |
NN |
denotes |
kindred |
| T15795 |
8718-8719 |
. |
denotes |
. |
| T15796 |
8719-8888 |
sentence |
denotes |
Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier. |
| T15797 |
8720-8726 |
VBN |
denotes |
Filled |
| T15798 |
8727-8734 |
NNS |
denotes |
symbols |
| T15799 |
8735-8741 |
VBP |
denotes |
denote |
| T15800 |
8863-8870 |
VBZ |
denotes |
denotes |
| T15801 |
8742-8750 |
VBN |
denotes |
affected |
| T15802 |
8751-8762 |
NNS |
denotes |
individuals |
| T15803 |
8762-8763 |
: |
denotes |
; |
| T15804 |
8764-8768 |
JJ |
denotes |
open |
| T15805 |
8769-8776 |
NNS |
denotes |
symbols |
| T15806 |
8789-8800 |
NNS |
denotes |
individuals |
| T15807 |
8776-8778 |
, |
denotes |
, |
| T15808 |
8778-8788 |
JJ |
denotes |
unaffected |
| T15809 |
8800-8801 |
: |
denotes |
; |
| T15810 |
8802-8806 |
JJ |
denotes |
grey |
| T15811 |
8807-8813 |
NN |
denotes |
symbol |
| T15812 |
8814-8821 |
VBZ |
denotes |
denotes |
| T15813 |
8822-8829 |
JJ |
denotes |
unknown |
| T15814 |
8838-8844 |
NN |
denotes |
status |
| T15815 |
8830-8837 |
NN |
denotes |
disease |
| T15816 |
8844-8845 |
: |
denotes |
; |
| T15817 |
8846-8851 |
NN |
denotes |
bulls |
| T15818 |
8852-8855 |
NN |
denotes |
eye |
| T15819 |
8851-8852 |
HYPH |
denotes |
- |
| T15820 |
8856-8862 |
NN |
denotes |
symbol |
| T15821 |
8871-8879 |
JJ |
denotes |
obligate |
| T15822 |
8880-8887 |
NN |
denotes |
carrier |
| T15823 |
8887-8888 |
. |
denotes |
. |
| T15824 |
8888-8962 |
sentence |
denotes |
w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion. |
| T15825 |
8889-8890 |
NN |
denotes |
w |
| T15826 |
8891-8892 |
NN |
denotes |
w |
| T15827 |
8890-8891 |
HYPH |
denotes |
/ |
| T15828 |
8892-8894 |
, |
denotes |
, |
| T15829 |
8894-8898 |
JJ |
denotes |
wild |
| T15830 |
8899-8903 |
NN |
denotes |
type |
| T15831 |
8898-8899 |
HYPH |
denotes |
- |
| T15832 |
8904-8906 |
IN |
denotes |
at |
| T15833 |
8907-8912 |
NN |
denotes |
ITPR1 |
| T15834 |
8912-8913 |
: |
denotes |
; |
| T15835 |
8914-8915 |
NN |
denotes |
w |
| T15836 |
8916-8917 |
NN |
denotes |
m |
| T15837 |
8915-8916 |
HYPH |
denotes |
/ |
| T15838 |
8917-8919 |
, |
denotes |
, |
| T15839 |
8919-8931 |
JJ |
denotes |
heterozygous |
| T15840 |
8932-8939 |
NN |
denotes |
carrier |
| T15841 |
8940-8942 |
IN |
denotes |
of |
| T15842 |
8943-8946 |
DT |
denotes |
the |
| T15843 |
8953-8961 |
NN |
denotes |
deletion |
| T15844 |
8947-8952 |
NN |
denotes |
ITPR1 |
| T15845 |
8961-8962 |
. |
denotes |
. |
| T15846 |
8962-9110 |
sentence |
denotes |
(Middle) Schematic of primer pairs used to narrow the unknown regions between known deleted sequence and known diploid sequence at the SCA15 locus. |
| T15847 |
8963-8964 |
-LRB- |
denotes |
( |
| T15848 |
8964-8970 |
NN |
denotes |
Middle |
| T15849 |
8972-8981 |
JJ |
denotes |
Schematic |
| T15850 |
8970-8971 |
-RRB- |
denotes |
) |
| T15851 |
8982-8984 |
IN |
denotes |
of |
| T15852 |
8985-8991 |
NN |
denotes |
primer |
| T15853 |
8992-8997 |
NNS |
denotes |
pairs |
| T15854 |
8998-9002 |
VBN |
denotes |
used |
| T15855 |
9003-9005 |
TO |
denotes |
to |
| T15856 |
9006-9012 |
VB |
denotes |
narrow |
| T15857 |
9013-9016 |
DT |
denotes |
the |
| T15858 |
9025-9032 |
NNS |
denotes |
regions |
| T15859 |
9017-9024 |
JJ |
denotes |
unknown |
| T15860 |
9033-9040 |
IN |
denotes |
between |
| T15861 |
9041-9046 |
VBN |
denotes |
known |
| T15862 |
9055-9063 |
NN |
denotes |
sequence |
| T15863 |
9047-9054 |
VBN |
denotes |
deleted |
| T15864 |
9064-9067 |
CC |
denotes |
and |
| T15865 |
9068-9073 |
VBN |
denotes |
known |
| T15866 |
9082-9090 |
NN |
denotes |
sequence |
| T15867 |
9074-9081 |
JJ |
denotes |
diploid |
| T15868 |
9091-9093 |
IN |
denotes |
at |
| T15869 |
9094-9097 |
DT |
denotes |
the |
| T15870 |
9104-9109 |
NN |
denotes |
locus |
| T15871 |
9098-9103 |
NN |
denotes |
SCA15 |
| T15872 |
9109-9110 |
. |
denotes |
. |
| T15873 |
9110-9335 |
sentence |
denotes |
Nine primer pairs (T1–T9) were used to amplify across the unknown region telomeric to the known deleted region; 19 primer pairs (C1–C19) were used to amplify across the unknown region centromeric to the known deleted region. |
| T15874 |
9111-9115 |
CD |
denotes |
Nine |
| T15875 |
9123-9128 |
NNS |
denotes |
pairs |
| T15876 |
9116-9122 |
NN |
denotes |
primer |
| T15877 |
9142-9146 |
VBN |
denotes |
used |
| T15878 |
9129-9130 |
-LRB- |
denotes |
( |
| T15879 |
9130-9132 |
NN |
denotes |
T1 |
| T15880 |
9132-9133 |
SYM |
denotes |
– |
| T15881 |
9133-9135 |
NN |
denotes |
T9 |
| T15882 |
9135-9136 |
-RRB- |
denotes |
) |
| T15883 |
9137-9141 |
VBD |
denotes |
were |
| T15884 |
9253-9257 |
VBN |
denotes |
used |
| T15885 |
9147-9149 |
TO |
denotes |
to |
| T15886 |
9150-9157 |
VB |
denotes |
amplify |
| T15887 |
9158-9164 |
IN |
denotes |
across |
| T15888 |
9165-9168 |
DT |
denotes |
the |
| T15889 |
9177-9183 |
NN |
denotes |
region |
| T15890 |
9169-9176 |
JJ |
denotes |
unknown |
| T15891 |
9184-9193 |
JJ |
denotes |
telomeric |
| T15892 |
9194-9196 |
IN |
denotes |
to |
| T15893 |
9197-9200 |
DT |
denotes |
the |
| T15894 |
9215-9221 |
NN |
denotes |
region |
| T15895 |
9201-9206 |
VBN |
denotes |
known |
| T15896 |
9207-9214 |
VBN |
denotes |
deleted |
| T15897 |
9221-9222 |
: |
denotes |
; |
| T15898 |
9223-9225 |
CD |
denotes |
19 |
| T15899 |
9233-9238 |
NNS |
denotes |
pairs |
| T15900 |
9226-9232 |
NN |
denotes |
primer |
| T15901 |
9239-9240 |
-LRB- |
denotes |
( |
| T15902 |
9240-9242 |
NN |
denotes |
C1 |
| T15903 |
9242-9243 |
SYM |
denotes |
– |
| T15904 |
9243-9246 |
NN |
denotes |
C19 |
| T15905 |
9246-9247 |
-RRB- |
denotes |
) |
| T15906 |
9248-9252 |
VBD |
denotes |
were |
| T15907 |
9258-9260 |
TO |
denotes |
to |
| T15908 |
9261-9268 |
VB |
denotes |
amplify |
| T15909 |
9269-9275 |
IN |
denotes |
across |
| T15910 |
9276-9279 |
DT |
denotes |
the |
| T15911 |
9288-9294 |
NN |
denotes |
region |
| T15912 |
9280-9287 |
JJ |
denotes |
unknown |
| T15913 |
9295-9306 |
JJ |
denotes |
centromeric |
| T15914 |
9307-9309 |
IN |
denotes |
to |
| T15915 |
9310-9313 |
DT |
denotes |
the |
| T15916 |
9328-9334 |
NN |
denotes |
region |
| T15917 |
9314-9319 |
VBN |
denotes |
known |
| T15918 |
9320-9327 |
VBN |
denotes |
deleted |
| T15919 |
9334-9335 |
. |
denotes |
. |
| T15920 |
9335-9399 |
sentence |
denotes |
All PCRs were carried out in the three affected family members. |
| T15921 |
9336-9339 |
DT |
denotes |
All |
| T15922 |
9340-9344 |
NNS |
denotes |
PCRs |
| T15923 |
9350-9357 |
VBN |
denotes |
carried |
| T15924 |
9345-9349 |
VBD |
denotes |
were |
| T15925 |
9358-9361 |
RP |
denotes |
out |
| T15926 |
9362-9364 |
IN |
denotes |
in |
| T15927 |
9365-9368 |
DT |
denotes |
the |
| T15928 |
9391-9398 |
NNS |
denotes |
members |
| T15929 |
9369-9374 |
CD |
denotes |
three |
| T15930 |
9375-9383 |
VBN |
denotes |
affected |
| T15931 |
9384-9390 |
NN |
denotes |
family |
| T15932 |
9398-9399 |
. |
denotes |
. |
| T15933 |
9399-9642 |
sentence |
denotes |
Analysis of these data narrowed the unknown region, and ultimately we were able to use primer T3f and C11r to amplify across the deletion breakpoint in the three affected family members, producing a fragment of 953 bp in affected individuals. |
| T15934 |
9400-9408 |
NN |
denotes |
Analysis |
| T15935 |
9423-9431 |
VBD |
denotes |
narrowed |
| T15936 |
9409-9411 |
IN |
denotes |
of |
| T15937 |
9412-9417 |
DT |
denotes |
these |
| T15938 |
9418-9422 |
NNS |
denotes |
data |
| T15939 |
9432-9435 |
DT |
denotes |
the |
| T15940 |
9444-9450 |
NN |
denotes |
region |
| T15941 |
9436-9443 |
JJ |
denotes |
unknown |
| T15942 |
9450-9452 |
, |
denotes |
, |
| T15943 |
9452-9455 |
CC |
denotes |
and |
| T15944 |
9456-9466 |
RB |
denotes |
ultimately |
| T15945 |
9470-9474 |
VBD |
denotes |
were |
| T15946 |
9467-9469 |
PRP |
denotes |
we |
| T15947 |
9475-9479 |
JJ |
denotes |
able |
| T15948 |
9480-9482 |
TO |
denotes |
to |
| T15949 |
9483-9486 |
VB |
denotes |
use |
| T15950 |
9487-9493 |
NN |
denotes |
primer |
| T15951 |
9494-9497 |
NN |
denotes |
T3f |
| T15952 |
9498-9501 |
CC |
denotes |
and |
| T15953 |
9502-9506 |
NN |
denotes |
C11r |
| T15954 |
9507-9509 |
TO |
denotes |
to |
| T15955 |
9510-9517 |
VB |
denotes |
amplify |
| T15956 |
9518-9524 |
IN |
denotes |
across |
| T15957 |
9525-9528 |
DT |
denotes |
the |
| T15958 |
9538-9548 |
NN |
denotes |
breakpoint |
| T15959 |
9529-9537 |
NN |
denotes |
deletion |
| T15960 |
9549-9551 |
IN |
denotes |
in |
| T15961 |
9552-9555 |
DT |
denotes |
the |
| T15962 |
9578-9585 |
NNS |
denotes |
members |
| T15963 |
9556-9561 |
CD |
denotes |
three |
| T15964 |
9562-9570 |
VBN |
denotes |
affected |
| T15965 |
9571-9577 |
NN |
denotes |
family |
| T15966 |
9585-9587 |
, |
denotes |
, |
| T15967 |
9587-9596 |
VBG |
denotes |
producing |
| T15968 |
9597-9598 |
DT |
denotes |
a |
| T15969 |
9599-9607 |
NN |
denotes |
fragment |
| T15970 |
9608-9610 |
IN |
denotes |
of |
| T15971 |
9611-9614 |
CD |
denotes |
953 |
| T15972 |
9615-9617 |
NN |
denotes |
bp |
| T15973 |
9618-9620 |
IN |
denotes |
in |
| T15974 |
9621-9629 |
VBN |
denotes |
affected |
| T15975 |
9630-9641 |
NNS |
denotes |
individuals |
| T15976 |
9641-9642 |
. |
denotes |
. |
| T15977 |
9642-9898 |
sentence |
denotes |
(Bottom) Gel showing amplification product using primer pair T3f and C11r from affected pedigree members 6, 7, and 19; in pedigree member 23, with unknown disease affection status; in a neurologically normal control (C); and in a no template control (NC). |
| T15978 |
9643-9644 |
-LRB- |
denotes |
( |
| T15979 |
9644-9650 |
NN |
denotes |
Bottom |
| T15980 |
9652-9655 |
NN |
denotes |
Gel |
| T15981 |
9650-9651 |
-RRB- |
denotes |
) |
| T15982 |
9656-9663 |
VBG |
denotes |
showing |
| T15983 |
9664-9677 |
NN |
denotes |
amplification |
| T15984 |
9678-9685 |
NN |
denotes |
product |
| T15985 |
9686-9691 |
VBG |
denotes |
using |
| T15986 |
9692-9698 |
NN |
denotes |
primer |
| T15987 |
9699-9703 |
NN |
denotes |
pair |
| T15988 |
9704-9707 |
NN |
denotes |
T3f |
| T15989 |
9708-9711 |
CC |
denotes |
and |
| T15990 |
9712-9716 |
NN |
denotes |
C11r |
| T15991 |
9717-9721 |
IN |
denotes |
from |
| T15992 |
9722-9730 |
VBN |
denotes |
affected |
| T15993 |
9748-9749 |
CD |
denotes |
6 |
| T15994 |
9731-9739 |
NN |
denotes |
pedigree |
| T15995 |
9740-9747 |
NNS |
denotes |
members |
| T15996 |
9749-9751 |
, |
denotes |
, |
| T15997 |
9751-9752 |
CD |
denotes |
7 |
| T15998 |
9752-9754 |
, |
denotes |
, |
| T15999 |
9754-9757 |
CC |
denotes |
and |
| T16000 |
9758-9760 |
CD |
denotes |
19 |
| T16001 |
9760-9761 |
: |
denotes |
; |
| T16002 |
9762-9764 |
IN |
denotes |
in |
| T16003 |
9765-9773 |
NN |
denotes |
pedigree |
| T16004 |
9774-9780 |
NN |
denotes |
member |
| T16005 |
9781-9783 |
CD |
denotes |
23 |
| T16006 |
9783-9785 |
, |
denotes |
, |
| T16007 |
9785-9789 |
IN |
denotes |
with |
| T16008 |
9790-9797 |
JJ |
denotes |
unknown |
| T16009 |
9816-9822 |
NN |
denotes |
status |
| T16010 |
9798-9805 |
NN |
denotes |
disease |
| T16011 |
9806-9815 |
NN |
denotes |
affection |
| T16012 |
9822-9823 |
: |
denotes |
; |
| T16013 |
9824-9826 |
IN |
denotes |
in |
| T16014 |
9827-9828 |
DT |
denotes |
a |
| T16015 |
9851-9858 |
NN |
denotes |
control |
| T16016 |
9829-9843 |
RB |
denotes |
neurologically |
| T16017 |
9844-9850 |
JJ |
denotes |
normal |
| T16018 |
9859-9860 |
-LRB- |
denotes |
( |
| T16019 |
9860-9861 |
NN |
denotes |
C |
| T16020 |
9861-9862 |
-RRB- |
denotes |
) |
| T16021 |
9862-9863 |
: |
denotes |
; |
| T16022 |
9864-9867 |
CC |
denotes |
and |
| T16023 |
9868-9870 |
IN |
denotes |
in |
| T16024 |
9871-9872 |
DT |
denotes |
a |
| T16025 |
9885-9892 |
NN |
denotes |
control |
| T16026 |
9873-9875 |
DT |
denotes |
no |
| T16027 |
9876-9884 |
NN |
denotes |
template |
| T16028 |
9893-9894 |
-LRB- |
denotes |
( |
| T16029 |
9894-9896 |
NN |
denotes |
NC |
| T16030 |
9896-9897 |
-RRB- |
denotes |
) |
| T16031 |
9897-9898 |
. |
denotes |
. |
| T16245 |
13718-13725 |
NNP |
denotes |
Western |
| T16246 |
13726-13730 |
NN |
denotes |
Blot |
| T16247 |
13731-13739 |
NN |
denotes |
Analysis |
| T16248 |
13740-13742 |
IN |
denotes |
of |
| T16249 |
13743-13748 |
NN |
denotes |
ITPR1 |
| T16250 |
13757-13763 |
NNS |
denotes |
Levels |
| T16251 |
13749-13756 |
NN |
denotes |
Protein |
| T16252 |
13764-13766 |
IN |
denotes |
in |
| T16253 |
13767-13770 |
NN |
denotes |
EBV |
| T16254 |
13784-13796 |
NNS |
denotes |
Lymphoblasts |
| T16255 |
13771-13783 |
VBN |
denotes |
Immortalized |
| T16256 |
13797-13801 |
IN |
denotes |
from |
| T16257 |
13802-13806 |
NN |
denotes |
AUS1 |
| T16258 |
13814-13821 |
NNS |
denotes |
Members |
| T16259 |
13807-13813 |
NN |
denotes |
Family |
| T16260 |
13821-14052 |
sentence |
denotes |
Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the ITPR1 deletion and from an AUS1 family member of unknown disease status who does not carry the deletion. |
| T16261 |
13822-13829 |
NNP |
denotes |
Western |
| T16262 |
13830-13834 |
NN |
denotes |
blot |
| T16263 |
13835-13844 |
VBN |
denotes |
performed |
| T16264 |
13845-13847 |
TO |
denotes |
to |
| T16265 |
13848-13855 |
VB |
denotes |
examine |
| T16266 |
13856-13861 |
NN |
denotes |
ITPR1 |
| T16267 |
13862-13868 |
NNS |
denotes |
levels |
| T16268 |
13869-13871 |
IN |
denotes |
in |
| T16269 |
13872-13875 |
NN |
denotes |
EBV |
| T16270 |
13889-13900 |
NNS |
denotes |
lymphocytes |
| T16271 |
13876-13888 |
VBN |
denotes |
immortalized |
| T16272 |
13901-13905 |
IN |
denotes |
from |
| T16273 |
13906-13910 |
NN |
denotes |
AUS1 |
| T16274 |
13911-13919 |
VBN |
denotes |
affected |
| T16275 |
13927-13934 |
NNS |
denotes |
members |
| T16276 |
13920-13926 |
NN |
denotes |
family |
| T16277 |
13935-13943 |
VBG |
denotes |
carrying |
| T16278 |
13944-13947 |
DT |
denotes |
the |
| T16279 |
13954-13962 |
NN |
denotes |
deletion |
| T16280 |
13948-13953 |
NN |
denotes |
ITPR1 |
| T16281 |
13963-13966 |
CC |
denotes |
and |
| T16282 |
13967-13971 |
IN |
denotes |
from |
| T16283 |
13972-13974 |
DT |
denotes |
an |
| T16284 |
13987-13993 |
NN |
denotes |
member |
| T16285 |
13975-13979 |
NN |
denotes |
AUS1 |
| T16286 |
13980-13986 |
NN |
denotes |
family |
| T16287 |
13994-13996 |
IN |
denotes |
of |
| T16288 |
13997-14004 |
JJ |
denotes |
unknown |
| T16289 |
14013-14019 |
NN |
denotes |
status |
| T16290 |
14005-14012 |
NN |
denotes |
disease |
| T16291 |
14020-14023 |
WP |
denotes |
who |
| T16292 |
14033-14038 |
VB |
denotes |
carry |
| T16293 |
14024-14028 |
VBZ |
denotes |
does |
| T16294 |
14029-14032 |
RB |
denotes |
not |
| T16295 |
14039-14042 |
DT |
denotes |
the |
| T16296 |
14043-14051 |
NN |
denotes |
deletion |
| T16297 |
14051-14052 |
. |
denotes |
. |
| T16298 |
14052-14148 |
sentence |
denotes |
Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels. |
| T16299 |
14053-14060 |
RB |
denotes |
Notably |
| T16300 |
14107-14111 |
VBP |
denotes |
show |
| T16301 |
14061-14064 |
DT |
denotes |
the |
| T16302 |
14065-14072 |
NNS |
denotes |
samples |
| T16303 |
14073-14077 |
IN |
denotes |
from |
| T16304 |
14078-14086 |
NNS |
denotes |
patients |
| T16305 |
14087-14091 |
IN |
denotes |
with |
| T16306 |
14092-14097 |
NN |
denotes |
ITPR1 |
| T16307 |
14098-14106 |
NN |
denotes |
deletion |
| T16308 |
14112-14113 |
DT |
denotes |
a |
| T16309 |
14123-14131 |
NN |
denotes |
decrease |
| T16310 |
14114-14122 |
JJ |
denotes |
dramatic |
| T16311 |
14132-14134 |
IN |
denotes |
in |
| T16312 |
14135-14140 |
NN |
denotes |
ITPR1 |
| T16313 |
14141-14147 |
NNS |
denotes |
levels |
| T16314 |
14147-14148 |
. |
denotes |
. |
| T16315 |
14148-14284 |
sentence |
denotes |
To demonstrate equal loading, these samples were diluted one in five, and the Western blot was repeated using an antibody against ACTB. |
| T16316 |
14149-14151 |
TO |
denotes |
To |
| T16317 |
14152-14163 |
VB |
denotes |
demonstrate |
| T16318 |
14198-14205 |
VBN |
denotes |
diluted |
| T16319 |
14164-14169 |
JJ |
denotes |
equal |
| T16320 |
14170-14177 |
NN |
denotes |
loading |
| T16321 |
14177-14179 |
, |
denotes |
, |
| T16322 |
14179-14184 |
DT |
denotes |
these |
| T16323 |
14185-14192 |
NNS |
denotes |
samples |
| T16324 |
14193-14197 |
VBD |
denotes |
were |
| T16325 |
14206-14209 |
CD |
denotes |
one |
| T16326 |
14210-14212 |
IN |
denotes |
in |
| T16327 |
14213-14217 |
CD |
denotes |
five |
| T16328 |
14217-14219 |
, |
denotes |
, |
| T16329 |
14219-14222 |
CC |
denotes |
and |
| T16330 |
14223-14226 |
DT |
denotes |
the |
| T16331 |
14235-14239 |
NN |
denotes |
blot |
| T16332 |
14227-14234 |
NNP |
denotes |
Western |
| T16333 |
14244-14252 |
VBN |
denotes |
repeated |
| T16334 |
14240-14243 |
VBD |
denotes |
was |
| T16335 |
14253-14258 |
VBG |
denotes |
using |
| T16336 |
14259-14261 |
DT |
denotes |
an |
| T16339 |
14279-14283 |
NN |
denotes |
ACTB |
| T16340 |
14283-14284 |
. |
denotes |
. |
| R242 |
T1474 |
T1475 |
det |
The,use |
| R243 |
T1475 |
T1476 |
nsubj |
use,become |
| R244 |
T1477 |
T1475 |
prep |
of,use |
| R245 |
T1478 |
T1479 |
amod |
forward,genetics |
| R246 |
T1479 |
T1477 |
pobj |
genetics,of |
| R247 |
T1480 |
T1481 |
aux |
to,define |
| R248 |
T1481 |
T1475 |
acl |
define,use |
| R249 |
T1482 |
T1483 |
amod |
novel,loci |
| R250 |
T1483 |
T1481 |
dobj |
loci,define |
| R251 |
T1484 |
T1483 |
prep |
of,loci |
| R252 |
T1485 |
T1484 |
pobj |
interest,of |
| R253 |
T1486 |
T1483 |
prep |
in,loci |
| R254 |
T1487 |
T1488 |
amod |
human,disease |
| R255 |
T1488 |
T1486 |
pobj |
disease,in |
| R256 |
T1489 |
T1476 |
aux |
has,become |
| R257 |
T1490 |
T1491 |
advmod |
increasingly,viable |
| R258 |
T1491 |
T1476 |
acomp |
viable,become |
| R259 |
T1492 |
T1476 |
prep |
with,become |
| R260 |
T1493 |
T1494 |
det |
the,implementation |
| R261 |
T1494 |
T1492 |
pobj |
implementation,with |
| R262 |
T1495 |
T1494 |
prep |
of,implementation |
| R263 |
T1496 |
T1497 |
amod |
large,scale |
| R264 |
T1497 |
T1499 |
compound |
scale,programs |
| R265 |
T1498 |
T1497 |
punct |
-,scale |
| R266 |
T1499 |
T1495 |
pobj |
programs,of |
| R267 |
T1500 |
T1499 |
compound |
mutagenesis,programs |
| R268 |
T1501 |
T1476 |
punct |
.,become |
| R269 |
T1503 |
T1504 |
advmod |
Prior,to |
| R270 |
T1504 |
T1505 |
prep |
to,carried |
| R271 |
T1506 |
T1507 |
det |
these,initiatives |
| R272 |
T1507 |
T1504 |
pobj |
initiatives,to |
| R273 |
T1508 |
T1509 |
det |
this,work |
| R274 |
T1509 |
T1505 |
nsubjpass |
work,carried |
| R275 |
T1510 |
T1505 |
auxpass |
was,carried |
| R276 |
T1511 |
T1505 |
prt |
out,carried |
| R277 |
T1512 |
T1505 |
prep |
in,carried |
| R278 |
T1513 |
T1512 |
amod |
part,in |
| R279 |
T1514 |
T1505 |
prep |
by,carried |
| R280 |
T1515 |
T1516 |
det |
the,investigation |
| R281 |
T1516 |
T1514 |
pobj |
investigation,by |
| R282 |
T1517 |
T1516 |
prep |
of,investigation |
| R283 |
T1518 |
T1519 |
amod |
spontaneous,mutations |
| R284 |
T1519 |
T1517 |
pobj |
mutations,of |
| R285 |
T1520 |
T1521 |
dep |
that,cause |
| R286 |
T1521 |
T1519 |
relcl |
cause,mutations |
| R287 |
T1522 |
T1521 |
dobj |
disorders,cause |
| R288 |
T1523 |
T1521 |
prep |
in,cause |
| R289 |
T1524 |
T1525 |
compound |
mouse,colonies |
| R290 |
T1525 |
T1523 |
pobj |
colonies,in |
| R291 |
T1526 |
T1525 |
compound |
breeding,colonies |
| R292 |
T1527 |
T1505 |
punct |
.,carried |
| R293 |
T1529 |
T1530 |
amod |
Careful,observation |
| R294 |
T1530 |
T1531 |
nsubj |
observation,led |
| R295 |
T1532 |
T1530 |
prep |
of,observation |
| R296 |
T1533 |
T1534 |
det |
these,events |
| R297 |
T1534 |
T1532 |
pobj |
events,of |
| R298 |
T1535 |
T1534 |
amod |
serendipitous,events |
| R299 |
T1536 |
T1531 |
aux |
has,led |
| R300 |
T1537 |
T1531 |
prep |
to,led |
| R301 |
T1538 |
T1539 |
det |
the,establishment |
| R302 |
T1539 |
T1537 |
pobj |
establishment,to |
| R303 |
T1540 |
T1539 |
cc |
and,establishment |
| R304 |
T1541 |
T1539 |
conj |
study,establishment |
| R305 |
T1542 |
T1539 |
prep |
of,establishment |
| R306 |
T1543 |
T1544 |
amod |
many,models |
| R307 |
T1544 |
T1542 |
pobj |
models,of |
| R308 |
T1545 |
T1546 |
advmod |
in,vivo |
| R309 |
T1546 |
T1544 |
amod |
vivo,models |
| R310 |
T1547 |
T1544 |
compound |
disease,models |
| R311 |
T1548 |
T1549 |
punct |
[,3 |
| R312 |
T1549 |
T1531 |
parataxis |
3,led |
| R313 |
T1550 |
T1549 |
punct |
],3 |
| R314 |
T1551 |
T1531 |
punct |
.,led |
| R315 |
T1553 |
T1554 |
prep |
During,noted |
| R316 |
T1555 |
T1556 |
det |
the,generation |
| R317 |
T1556 |
T1553 |
pobj |
generation,During |
| R318 |
T1557 |
T1556 |
prep |
of,generation |
| R319 |
T1558 |
T1559 |
det |
a,line |
| R320 |
T1559 |
T1557 |
pobj |
line,of |
| R321 |
T1560 |
T1559 |
compound |
knockout,line |
| R322 |
T1561 |
T1559 |
prep |
of,line |
| R323 |
T1562 |
T1561 |
pobj |
mice,of |
| R324 |
T1563 |
T1554 |
nsubj |
we,noted |
| R325 |
T1564 |
T1565 |
det |
an,disorder |
| R326 |
T1565 |
T1554 |
dobj |
disorder,noted |
| R327 |
T1566 |
T1565 |
amod |
early,disorder |
| R328 |
T1567 |
T1565 |
compound |
movement,disorder |
| R329 |
T1568 |
T1569 |
dep |
that,inherited |
| R330 |
T1569 |
T1565 |
relcl |
inherited,disorder |
| R331 |
T1570 |
T1569 |
auxpass |
was,inherited |
| R332 |
T1571 |
T1569 |
advmod |
independently,inherited |
| R333 |
T1572 |
T1571 |
prep |
of,independently |
| R334 |
T1573 |
T1574 |
amod |
targeting,vector |
| R335 |
T1574 |
T1575 |
compound |
vector,transmission |
| R336 |
T1575 |
T1572 |
pobj |
transmission,of |
| R337 |
T1576 |
T1554 |
punct |
.,noted |
| R338 |
T1578 |
T1579 |
nsubj |
We,embarked |
| R339 |
T1580 |
T1579 |
prep |
on,embarked |
| R340 |
T1581 |
T1582 |
det |
a,series |
| R341 |
T1582 |
T1580 |
pobj |
series,on |
| R342 |
T1583 |
T1582 |
prep |
of,series |
| R343 |
T1584 |
T1583 |
pobj |
experiments,of |
| R344 |
T1585 |
T1586 |
aux |
to,identify |
| R345 |
T1586 |
T1579 |
advcl |
identify,embarked |
| R346 |
T1587 |
T1588 |
det |
the,lesion |
| R347 |
T1588 |
T1586 |
dobj |
lesion,identify |
| R348 |
T1589 |
T1588 |
amod |
genetic,lesion |
| R349 |
T1590 |
T1588 |
acl |
underlying,lesion |
| R350 |
T1591 |
T1592 |
det |
this,disorder |
| R351 |
T1592 |
T1590 |
dobj |
disorder,underlying |
| R352 |
T1593 |
T1592 |
compound |
movement,disorder |
| R353 |
T1594 |
T1586 |
cc |
and,identify |
| R354 |
T1595 |
T1596 |
aux |
to,identify |
| R355 |
T1596 |
T1586 |
conj |
identify,identify |
| R356 |
T1597 |
T1598 |
det |
a,disease |
| R357 |
T1598 |
T1596 |
dobj |
disease,identify |
| R358 |
T1599 |
T1598 |
amod |
cognate,disease |
| R359 |
T1600 |
T1598 |
cc |
and,disease |
| R360 |
T1601 |
T1602 |
amod |
corresponding,mutation |
| R361 |
T1602 |
T1598 |
conj |
mutation,disease |
| R362 |
T1603 |
T1596 |
prep |
in,identify |
| R363 |
T1604 |
T1603 |
pobj |
humans,in |
| R364 |
T1605 |
T1579 |
punct |
.,embarked |
| R365 |
T1607 |
T1608 |
advmod |
Here,describe |
| R366 |
T1609 |
T1608 |
nsubj |
we,describe |
| R367 |
T1610 |
T1611 |
det |
this,effort |
| R368 |
T1611 |
T1608 |
dobj |
effort,describe |
| R369 |
T1612 |
T1611 |
cc |
and,effort |
| R370 |
T1613 |
T1614 |
det |
the,discovery |
| R371 |
T1614 |
T1611 |
conj |
discovery,effort |
| R372 |
T1615 |
T1614 |
prep |
of,discovery |
| R373 |
T1616 |
T1615 |
pobj |
deletion,of |
| R374 |
T1617 |
T1616 |
prep |
at,deletion |
| R375 |
T1618 |
T1619 |
det |
the,locus |
| R376 |
T1619 |
T1617 |
pobj |
locus,at |
| R377 |
T1620 |
T1619 |
compound |
ITPR1,locus |
| R378 |
T1621 |
T1608 |
prep |
as,describe |
| R379 |
T1622 |
T1623 |
det |
a,cause |
| R380 |
T1623 |
T1621 |
pobj |
cause,as |
| R381 |
T1624 |
T1623 |
prep |
of,cause |
| R382 |
T1625 |
T1626 |
det |
this,disorder |
| R383 |
T1626 |
T1624 |
pobj |
disorder,of |
| R384 |
T1627 |
T1626 |
prep |
in,disorder |
| R385 |
T1628 |
T1627 |
pobj |
mice,in |
| R386 |
T1629 |
T1624 |
cc |
and,of |
| R387 |
T1630 |
T1624 |
conj |
of,of |
| R388 |
T1631 |
T1632 |
amod |
spinocerebellar,ataxia |
| R389 |
T1632 |
T1630 |
pobj |
ataxia,of |
| R390 |
T1633 |
T1632 |
nummod |
15,ataxia |
| R391 |
T1634 |
T1632 |
punct |
(,ataxia |
| R392 |
T1635 |
T1632 |
appos |
SCA15,ataxia |
| R393 |
T1636 |
T1632 |
punct |
),ataxia |
| R394 |
T1637 |
T1632 |
prep |
in,ataxia |
| R395 |
T1638 |
T1637 |
pobj |
humans,in |
| R396 |
T1639 |
T1608 |
punct |
.,describe |
| R406 |
T6363 |
T6364 |
prep |
During,noted |
| R408 |
T6365 |
T6366 |
det |
the,generation |
| R409 |
T6366 |
T6363 |
pobj |
generation,During |
| R410 |
T6474 |
T6473 |
prep |
at,presented |
| R411 |
T6475 |
T6476 |
advmod |
approximately,day |
| R412 |
T6476 |
T6474 |
pobj |
day,at |
| R413 |
T6477 |
T6476 |
amod |
postnatal,day |
| R414 |
T6367 |
T6366 |
prep |
of,generation |
| R415 |
T6368 |
T6369 |
det |
a,line |
| R416 |
T6478 |
T6476 |
nummod |
14,day |
| R417 |
T6369 |
T6367 |
pobj |
line,of |
| R418 |
T6370 |
T6369 |
prep |
of,line |
| R419 |
T6371 |
T6370 |
pobj |
mice,of |
| R420 |
T6479 |
T6473 |
punct |
", ",presented |
| R421 |
T6372 |
T6371 |
prep |
with,mice |
| R422 |
T6373 |
T6372 |
pobj |
knockout,with |
| R423 |
T6374 |
T6373 |
prep |
of,knockout |
| R424 |
T6480 |
T6473 |
cc |
and,presented |
| R425 |
T6375 |
T6376 |
det |
the,gene |
| R426 |
T6376 |
T6374 |
pobj |
gene,of |
| R427 |
T6481 |
T6482 |
compound |
survival,time |
| R428 |
T6377 |
T6376 |
appos |
Park7,gene |
| R429 |
T6378 |
T6364 |
nsubj |
we,noted |
| R430 |
T6379 |
T6380 |
det |
an,disorder |
| R431 |
T6380 |
T6364 |
dobj |
disorder,noted |
| R432 |
T6482 |
T6483 |
nsubj |
time,was |
| R433 |
T6381 |
T6380 |
amod |
early,disorder |
| R434 |
T6382 |
T6380 |
compound |
movement,disorder |
| R435 |
T6383 |
T6384 |
dep |
that,inherited |
| R436 |
T6483 |
T6473 |
conj |
was,presented |
| R437 |
T6384 |
T6380 |
relcl |
inherited,disorder |
| R438 |
T6385 |
T6384 |
auxpass |
was,inherited |
| R439 |
T6386 |
T6384 |
advmod |
independently,inherited |
| R440 |
T6484 |
T6482 |
prep |
without,time |
| R441 |
T6387 |
T6386 |
prep |
of,independently |
| R442 |
T6388 |
T6389 |
compound |
targeting,vector |
| R443 |
T6389 |
T6390 |
compound |
vector,transmission |
| R444 |
T6485 |
T6484 |
pobj |
weaning,without |
| R445 |
T6390 |
T6387 |
pobj |
transmission,of |
| R446 |
T6391 |
T6364 |
punct |
.,noted |
| R447 |
T6393 |
T6394 |
poss |
Our,observations |
| R448 |
T6394 |
T6396 |
nsubj |
observations,suggested |
| R449 |
T6395 |
T6394 |
amod |
initial,observations |
| R450 |
T6397 |
T6398 |
det |
the,mice |
| R451 |
T6398 |
T6400 |
nsubj |
mice,suffered |
| R452 |
T6486 |
T6483 |
prep |
on,was |
| R453 |
T6399 |
T6398 |
amod |
affected,mice |
| R454 |
T6400 |
T6396 |
advcl |
suffered,suggested |
| R455 |
T6401 |
T6400 |
prep |
from,suffered |
| R456 |
T6402 |
T6403 |
det |
an,disorder |
| R457 |
T6487 |
T6486 |
amod |
average,on |
| R458 |
T6403 |
T6401 |
pobj |
disorder,from |
| R459 |
T6404 |
T6405 |
advmod |
apparently,paroxysmal |
| R460 |
T6405 |
T6403 |
amod |
paroxysmal,disorder |
| R461 |
T6488 |
T6489 |
nummod |
4,wk |
| R462 |
T6406 |
T6403 |
compound |
movement,disorder |
| R463 |
T6407 |
T6403 |
punct |
", ",disorder |
| R464 |
T6408 |
T6409 |
advmod |
often,induced |
| R465 |
T6489 |
T6490 |
npadvmod |
wk,after |
| R466 |
T6409 |
T6403 |
acl |
induced,disorder |
| R467 |
T6410 |
T6409 |
prep |
by,induced |
| R468 |
T6411 |
T6410 |
pobj |
touch,by |
| R469 |
T6490 |
T6483 |
prep |
after,was |
| R470 |
T6412 |
T6396 |
punct |
.,suggested |
| R471 |
T6491 |
T6490 |
pobj |
onset,after |
| R472 |
T6414 |
T6415 |
det |
The,movements |
| R473 |
T6492 |
T6483 |
punct |
.,was |
| R474 |
T6415 |
T6417 |
nsubj |
movements,occurred |
| R475 |
T6416 |
T6415 |
amod |
abnormal,movements |
| R476 |
T6494 |
T6495 |
compound |
Breeding,experiments |
| R477 |
T6418 |
T6417 |
advmod |
predominantly,occurred |
| R478 |
T6419 |
T6417 |
prep |
below,occurred |
| R479 |
T6420 |
T6421 |
det |
the,level |
| R480 |
T6495 |
T6496 |
nsubj |
experiments,suggested |
| R481 |
T6421 |
T6419 |
pobj |
level,below |
| R482 |
T6422 |
T6421 |
amod |
cervical,level |
| R483 |
T6423 |
T6417 |
punct |
", ",occurred |
| R484 |
T6497 |
T6498 |
mark |
that,inherited |
| R485 |
T6424 |
T6417 |
cc |
and,occurred |
| R486 |
T6425 |
T6426 |
det |
the,disorder |
| R487 |
T6426 |
T6427 |
nsubj |
disorder,appeared |
| R488 |
T6498 |
T6496 |
ccomp |
inherited,suggested |
| R489 |
T6427 |
T6417 |
conj |
appeared,occurred |
| R490 |
T6428 |
T6427 |
oprd |
progressive,appeared |
| R491 |
T6429 |
T6427 |
punct |
.,appeared |
| R492 |
T6499 |
T6500 |
det |
the,disorder |
| R493 |
T6431 |
T6432 |
prep |
At,likened |
| R494 |
T6500 |
T6498 |
nsubjpass |
disorder,inherited |
| R495 |
T6433 |
T6434 |
amod |
initial,examination |
| R496 |
T6434 |
T6431 |
pobj |
examination,At |
| R497 |
T6435 |
T6432 |
punct |
", ",likened |
| R498 |
T6501 |
T6500 |
amod |
observed,disorder |
| R499 |
T6436 |
T6437 |
det |
a,specialist |
| R500 |
T6437 |
T6432 |
nsubj |
specialist,likened |
| R501 |
T6438 |
T6439 |
amod |
human,disorder |
| R502 |
T6439 |
T6437 |
compound |
disorder,specialist |
| R503 |
T6440 |
T6439 |
compound |
movement,disorder |
| R504 |
T6502 |
T6498 |
auxpass |
was,inherited |
| R505 |
T6441 |
T6442 |
punct |
(,H. |
| R506 |
T6442 |
T6437 |
parataxis |
H.,specialist |
| R507 |
T6443 |
T6442 |
compound |
K.,H. |
| R508 |
T6444 |
T6442 |
compound |
G.,H. |
| R509 |
T6503 |
T6498 |
prep |
in,inherited |
| R510 |
T6445 |
T6442 |
punct |
-,H. |
| R511 |
T6446 |
T6442 |
punct |
),H. |
| R512 |
T6447 |
T6448 |
det |
the,disorder |
| R513 |
T6504 |
T6505 |
det |
an,manner |
| R514 |
T6448 |
T6432 |
dobj |
disorder,likened |
| R515 |
T6449 |
T6432 |
prep |
to,likened |
| R516 |
T6450 |
T6451 |
amod |
episodic,ataxia |
| R517 |
T6505 |
T6503 |
pobj |
manner,in |
| R518 |
T6451 |
T6449 |
pobj |
ataxia,to |
| R519 |
T6452 |
T6451 |
amod |
intermittent,ataxia |
| R520 |
T6453 |
T6451 |
cc |
or,ataxia |
| R521 |
T6506 |
T6505 |
amod |
autosomal,manner |
| R522 |
T6454 |
T6455 |
amod |
kinesiogenic,dystonia |
| R523 |
T6455 |
T6451 |
conj |
dystonia,ataxia |
| R524 |
T6456 |
T6455 |
amod |
paroxysmal,dystonia |
| R525 |
T6507 |
T6505 |
amod |
recessive,manner |
| R526 |
T6457 |
T6432 |
cc |
and,likened |
| R527 |
T6458 |
T6432 |
conj |
predicted,likened |
| R528 |
T6459 |
T6460 |
det |
the,involvement |
| R529 |
T6508 |
T6496 |
punct |
.,suggested |
| R530 |
T6460 |
T6458 |
dobj |
involvement,predicted |
| R531 |
T6461 |
T6460 |
prep |
of,involvement |
| R532 |
T6510 |
T6511 |
aux |
To,map |
| R533 |
T6462 |
T6463 |
det |
an,mutation |
| R534 |
T6463 |
T6461 |
pobj |
mutation,of |
| R535 |
T6464 |
T6463 |
compound |
ion,mutation |
| R536 |
T6465 |
T6463 |
compound |
channel,mutation |
| R537 |
T6466 |
T6460 |
prep |
in,involvement |
| R538 |
T6511 |
T6512 |
advcl |
map,performed |
| R539 |
T6467 |
T6468 |
det |
the,etiology |
| R540 |
T6468 |
T6466 |
pobj |
etiology,in |
| R541 |
T6513 |
T6514 |
det |
the,location |
| R542 |
T6469 |
T6432 |
punct |
.,likened |
| R543 |
T6471 |
T6472 |
amod |
Affected,mice |
| R544 |
T6472 |
T6473 |
nsubj |
mice,presented |
| R545 |
T6514 |
T6511 |
dobj |
location,map |
| R546 |
T6515 |
T6514 |
prep |
of,location |
| R547 |
T6516 |
T6517 |
det |
the,lesion |
| R548 |
T6517 |
T6515 |
pobj |
lesion,of |
| R549 |
T6518 |
T6519 |
npadvmod |
disease,causing |
| R550 |
T6579 |
T6580 |
det |
The,haplotype |
| R551 |
T6519 |
T6517 |
amod |
causing,lesion |
| R552 |
T6580 |
T6582 |
nsubj |
haplotype,suggested |
| R553 |
T6581 |
T6580 |
amod |
linked,haplotype |
| R554 |
T6583 |
T6584 |
det |
the,mutation |
| R555 |
T6584 |
T6585 |
nsubj |
mutation,occurred |
| R556 |
T6520 |
T6519 |
punct |
-,causing |
| R557 |
T6585 |
T6582 |
advcl |
occurred,suggested |
| R558 |
T6586 |
T6585 |
aux |
had,occurred |
| R559 |
T6521 |
T6512 |
punct |
", ",performed |
| R560 |
T6587 |
T6585 |
prep |
on,occurred |
| R561 |
T6588 |
T6589 |
det |
the,background |
| R562 |
T6522 |
T6512 |
nsubj |
we,performed |
| R563 |
T6589 |
T6587 |
pobj |
background,on |
| R564 |
T6523 |
T6524 |
npadvmod |
genome,wide |
| R565 |
T6590 |
T6591 |
compound |
129x1,SvJ |
| R566 |
T6591 |
T6589 |
compound |
SvJ,background |
| R567 |
T6524 |
T6526 |
amod |
wide,analysis |
| R568 |
T6592 |
T6591 |
punct |
/,SvJ |
| R569 |
T6593 |
T6594 |
punct |
(,S1 |
| R570 |
T6594 |
T6582 |
parataxis |
S1,suggested |
| R571 |
T6525 |
T6524 |
punct |
-,wide |
| R572 |
T6595 |
T6594 |
compound |
Figure,S1 |
| R573 |
T6596 |
T6594 |
punct |
),S1 |
| R574 |
T6597 |
T6582 |
punct |
.,suggested |
| R575 |
T6526 |
T6512 |
dobj |
analysis,performed |
| R576 |
T6599 |
T6600 |
compound |
Literature,searches |
| R577 |
T6600 |
T6601 |
nsubj |
searches,revealed |
| R578 |
T6527 |
T6526 |
compound |
linkage,analysis |
| R579 |
T6602 |
T6603 |
mark |
that,displays |
| R580 |
T6528 |
T6512 |
advcl |
using,performed |
| R581 |
T6603 |
T6601 |
ccomp |
displays,revealed |
| R582 |
T6604 |
T6603 |
prep |
among,displays |
| R583 |
T6605 |
T6606 |
compound |
disease,lines |
| R584 |
T6529 |
T6530 |
npadvmod |
strain,specific |
| R585 |
T6606 |
T6604 |
pobj |
lines,among |
| R586 |
T6607 |
T6606 |
acl |
mapped,lines |
| R587 |
T6608 |
T6607 |
prep |
to,mapped |
| R588 |
T6530 |
T6532 |
amod |
specific,polymorphisms |
| R589 |
T6609 |
T6608 |
pobj |
6qE1,to |
| R590 |
T6610 |
T6603 |
punct |
", ",displays |
| R591 |
T6531 |
T6530 |
punct |
-,specific |
| R592 |
T6611 |
T6612 |
det |
the,mutant |
| R593 |
T6612 |
T6603 |
nsubj |
mutant,displays |
| R594 |
T6613 |
T6612 |
amod |
spontaneous,mutant |
| R595 |
T6532 |
T6528 |
dobj |
polymorphisms,using |
| R596 |
T6614 |
T6615 |
compound |
opt,mouse |
| R597 |
T6615 |
T6612 |
appos |
mouse,mutant |
| R598 |
T6616 |
T6617 |
det |
a,presentation |
| R599 |
T6617 |
T6603 |
dobj |
presentation,displays |
| R600 |
T6533 |
T6534 |
amod |
single,nucleotide |
| R601 |
T6618 |
T6619 |
advmod |
strikingly,similar |
| R602 |
T6619 |
T6617 |
amod |
similar,presentation |
| R603 |
T6534 |
T6532 |
compound |
nucleotide,polymorphisms |
| R604 |
T6620 |
T6617 |
prep |
to,presentation |
| R605 |
T6621 |
T6620 |
pobj |
that,to |
| R606 |
T6622 |
T6621 |
acl |
described,that |
| R607 |
T6623 |
T6622 |
advmod |
here,described |
| R608 |
T6535 |
T6532 |
punct |
(,polymorphisms |
| R609 |
T6624 |
T6625 |
punct |
[,1 |
| R610 |
T6625 |
T6601 |
parataxis |
1,revealed |
| R611 |
T6626 |
T6625 |
punct |
],1 |
| R612 |
T6627 |
T6601 |
punct |
.,revealed |
| R613 |
T6536 |
T6532 |
appos |
SNPs,polymorphisms |
| R614 |
T6537 |
T6528 |
punct |
),using |
| R615 |
T6629 |
T6630 |
det |
The,lesion |
| R616 |
T6630 |
T6633 |
nsubj |
lesion,is |
| R617 |
T6631 |
T6630 |
amod |
underlying,lesion |
| R618 |
T6632 |
T6630 |
amod |
genetic,lesion |
| R619 |
T6538 |
T6528 |
prep |
at,using |
| R620 |
T6634 |
T6630 |
acl |
causing,lesion |
| R621 |
T6539 |
T6540 |
nummod |
120,loci |
| R622 |
T6635 |
T6636 |
det |
the,phenotype |
| R623 |
T6636 |
T6634 |
dobj |
phenotype,causing |
| R624 |
T6637 |
T6636 |
compound |
opt,phenotype |
| R625 |
T6540 |
T6538 |
pobj |
loci,at |
| R626 |
T6638 |
T6639 |
det |
a,deletion |
| R627 |
T6639 |
T6633 |
attr |
deletion,is |
| R628 |
T6640 |
T6639 |
amod |
homozygous,deletion |
| R629 |
T6641 |
T6642 |
nmod |
in,frame |
| R630 |
T6541 |
T6528 |
prep |
across,using |
| R631 |
T6642 |
T6639 |
compound |
frame,deletion |
| R632 |
T6643 |
T6642 |
punct |
-,frame |
| R633 |
T6542 |
T6543 |
det |
the,genome |
| R634 |
T6644 |
T6639 |
prep |
of,deletion |
| R635 |
T6645 |
T6646 |
nmod |
exons,43 |
| R636 |
T6646 |
T6644 |
pobj |
43,of |
| R637 |
T6543 |
T6541 |
pobj |
genome,across |
| R638 |
T6647 |
T6646 |
cc |
and,43 |
| R639 |
T6648 |
T6646 |
conj |
44,43 |
| R640 |
T6649 |
T6646 |
prep |
of,43 |
| R641 |
T6544 |
T6543 |
compound |
mouse,genome |
| R642 |
T6650 |
T6651 |
det |
the,Itpr1 |
| R643 |
T6651 |
T6649 |
pobj |
Itpr1,of |
| R644 |
T6652 |
T6651 |
compound |
gene,Itpr1 |
| R645 |
T6545 |
T6512 |
punct |
.,performed |
| R646 |
T6653 |
T6654 |
punct |
(,opt |
| R647 |
T6654 |
T6651 |
parataxis |
opt,Itpr1 |
| R648 |
T6655 |
T6654 |
compound |
Itpr1opt,opt |
| R649 |
T6547 |
T6548 |
nsubj |
Analysis,showed |
| R650 |
T6656 |
T6654 |
punct |
/,opt |
| R651 |
T6657 |
T6654 |
punct |
),opt |
| R652 |
T6658 |
T6646 |
punct |
", ",43 |
| R653 |
T6659 |
T6646 |
acl |
encoding,43 |
| R654 |
T6549 |
T6547 |
prep |
of,Analysis |
| R655 |
T6660 |
T6661 |
nmod |
inositol,receptor |
| R656 |
T6661 |
T6659 |
dobj |
receptor,encoding |
| R657 |
T6662 |
T6663 |
nummod |
1,5 |
| R658 |
T6663 |
T6667 |
nummod |
5,triphosphate |
| R659 |
T6664 |
T6663 |
punct |
",",5 |
| R660 |
T6665 |
T6663 |
nummod |
4,5 |
| R661 |
T6666 |
T6663 |
punct |
",",5 |
| R662 |
T6667 |
T6661 |
compound |
triphosphate,receptor |
| R663 |
T6668 |
T6667 |
punct |
-,triphosphate |
| R664 |
T6550 |
T6551 |
det |
these,data |
| R665 |
T6669 |
T6661 |
nummod |
1,receptor |
| R666 |
T6670 |
T6671 |
punct |
(,Itpr1 |
| R667 |
T6671 |
T6661 |
parataxis |
Itpr1,receptor |
| R668 |
T6551 |
T6549 |
pobj |
data,of |
| R669 |
T6672 |
T6671 |
punct |
),Itpr1 |
| R670 |
T6673 |
T6633 |
punct |
.,is |
| R671 |
T6552 |
T6553 |
det |
a,region |
| R672 |
T6675 |
T6676 |
nsubj |
Sequencing,revealed |
| R673 |
T6553 |
T6548 |
dobj |
region,showed |
| R674 |
T6677 |
T6675 |
prep |
of,Sequencing |
| R675 |
T6554 |
T6553 |
amod |
single,region |
| R676 |
T6678 |
T6679 |
det |
all,exons |
| R677 |
T6679 |
T6677 |
pobj |
exons,of |
| R678 |
T6555 |
T6553 |
amod |
genomic,region |
| R679 |
T6680 |
T6679 |
cc |
and,exons |
| R680 |
T6681 |
T6682 |
compound |
intron,exon |
| R681 |
T6682 |
T6684 |
compound |
exon,boundaries |
| R682 |
T6556 |
T6553 |
prep |
with,region |
| R683 |
T6683 |
T6682 |
punct |
–,exon |
| R684 |
T6557 |
T6558 |
amod |
significant,linkage |
| R685 |
T6558 |
T6556 |
pobj |
linkage,with |
| R686 |
T6684 |
T6679 |
conj |
boundaries,exons |
| R687 |
T6559 |
T6558 |
prep |
to,linkage |
| R688 |
T6685 |
T6684 |
prep |
of,boundaries |
| R689 |
T6686 |
T6685 |
pobj |
Itpr1,of |
| R690 |
T6560 |
T6559 |
pobj |
disease,to |
| R691 |
T6687 |
T6679 |
prep |
in,exons |
| R692 |
T6688 |
T6689 |
amod |
affected,mice |
| R693 |
T6561 |
T6548 |
punct |
", ",showed |
| R694 |
T6689 |
T6687 |
pobj |
mice,in |
| R695 |
T6690 |
T6689 |
prep |
from,mice |
| R696 |
T6562 |
T6548 |
advcl |
providing,showed |
| R697 |
T6691 |
T6692 |
det |
the,study |
| R698 |
T6692 |
T6690 |
pobj |
study,from |
| R699 |
T6693 |
T6692 |
amod |
current,study |
| R700 |
T6563 |
T6564 |
det |
a,score |
| R701 |
T6694 |
T6695 |
det |
a,mutation |
| R702 |
T6695 |
T6676 |
dobj |
mutation,revealed |
| R703 |
T6696 |
T6695 |
amod |
single,mutation |
| R704 |
T6564 |
T6562 |
dobj |
score,providing |
| R705 |
T6697 |
T6695 |
prep |
within,mutation |
| R706 |
T6698 |
T6697 |
pobj |
Itpr1,within |
| R707 |
T6699 |
T6695 |
punct |
: ,mutation |
| R708 |
T6565 |
T6566 |
nummod |
two,point |
| R709 |
T6700 |
T6701 |
det |
a,deletion |
| R710 |
T6701 |
T6695 |
appos |
deletion,mutation |
| R711 |
T6702 |
T6701 |
amod |
novel,deletion |
| R712 |
T6703 |
T6701 |
nmod |
in,deletion |
| R713 |
T6704 |
T6703 |
punct |
-,in |
| R714 |
T6705 |
T6703 |
pobj |
frame,in |
| R715 |
T6566 |
T6564 |
compound |
point,score |
| R716 |
T6706 |
T6701 |
prep |
of,deletion |
| R717 |
T6707 |
T6708 |
nummod |
18,bp |
| R718 |
T6708 |
T6706 |
pobj |
bp,of |
| R719 |
T6567 |
T6566 |
punct |
-,point |
| R720 |
T6709 |
T6701 |
prep |
within,deletion |
| R721 |
T6568 |
T6564 |
compound |
LOD,score |
| R722 |
T6710 |
T6709 |
pobj |
exon,within |
| R723 |
T6711 |
T6710 |
nummod |
36,exon |
| R724 |
T6712 |
T6713 |
punct |
(,Δ18 |
| R725 |
T6713 |
T6701 |
parataxis |
Δ18,deletion |
| R726 |
T6569 |
T6564 |
prep |
of,score |
| R727 |
T6714 |
T6713 |
compound |
Itpr1Δ18,Δ18 |
| R728 |
T6715 |
T6713 |
punct |
/,Δ18 |
| R729 |
T6716 |
T6713 |
punct |
),Δ18 |
| R730 |
T6570 |
T6569 |
pobj |
5.13,of |
| R731 |
T6717 |
T6676 |
punct |
.,revealed |
| R732 |
T6719 |
T6720 |
aux |
To,confirm |
| R733 |
T6571 |
T6564 |
prep |
at,score |
| R734 |
T6720 |
T6721 |
advcl |
confirm,crossed |
| R735 |
T6722 |
T6723 |
det |
the,pathogenicity |
| R736 |
T6572 |
T6573 |
compound |
marker,20.MMHAP85FLG2 |
| R737 |
T6723 |
T6720 |
dobj |
pathogenicity,confirm |
| R738 |
T6724 |
T6723 |
prep |
of,pathogenicity |
| R739 |
T6725 |
T6726 |
det |
this,mutation |
| R740 |
T6573 |
T6571 |
pobj |
20.MMHAP85FLG2,at |
| R741 |
T6726 |
T6724 |
pobj |
mutation,of |
| R742 |
T6727 |
T6721 |
nsubj |
we,crossed |
| R743 |
T6574 |
T6573 |
prep |
on,20.MMHAP85FLG2 |
| R744 |
T6728 |
T6729 |
amod |
heterozygous,mice |
| R745 |
T6729 |
T6721 |
dobj |
mice,crossed |
| R746 |
T6730 |
T6729 |
prep |
from,mice |
| R747 |
T6731 |
T6732 |
det |
the,study |
| R748 |
T6575 |
T6576 |
compound |
Chromosome,6qE1 |
| R749 |
T6732 |
T6730 |
pobj |
study,from |
| R750 |
T6733 |
T6732 |
amod |
current,study |
| R751 |
T6576 |
T6574 |
pobj |
6qE1,on |
| R752 |
T6734 |
T6735 |
punct |
(,Δ18 |
| R753 |
T6735 |
T6730 |
parataxis |
Δ18,from |
| R754 |
T6736 |
T6735 |
compound |
Itpr1wt,Δ18 |
| R755 |
T6737 |
T6735 |
punct |
/,Δ18 |
| R756 |
T6577 |
T6548 |
punct |
.,showed |
| R757 |
T6738 |
T6735 |
punct |
),Δ18 |
| R758 |
T6739 |
T6721 |
prep |
with,crossed |
| R759 |
T6789 |
T6787 |
cc |
and,Δ18 |
| R760 |
T6740 |
T6739 |
pobj |
mice,with |
| R761 |
T6741 |
T6740 |
amod |
heterozygous,mice |
| R762 |
T6742 |
T6741 |
prep |
for,heterozygous |
| R763 |
T6743 |
T6744 |
det |
the,mutation |
| R764 |
T6744 |
T6742 |
pobj |
mutation,for |
| R765 |
T6745 |
T6744 |
compound |
opt,mutation |
| R766 |
T6746 |
T6747 |
punct |
(,opt |
| R767 |
T6747 |
T6740 |
parataxis |
opt,mice |
| R768 |
T6748 |
T6747 |
compound |
Itpr1wt,opt |
| R769 |
T6749 |
T6747 |
punct |
/,opt |
| R770 |
T6790 |
T6791 |
compound |
Itpr1opt,opt |
| R771 |
T6750 |
T6747 |
punct |
),opt |
| R772 |
T6751 |
T6721 |
punct |
.,crossed |
| R773 |
T6791 |
T6787 |
conj |
opt,Δ18 |
| R774 |
T6753 |
T6754 |
nsubj |
This,resulted |
| R775 |
T6755 |
T6754 |
prep |
in,resulted |
| R776 |
T6792 |
T6791 |
punct |
/,opt |
| R777 |
T6756 |
T6757 |
nummod |
two,litters |
| R778 |
T6757 |
T6755 |
pobj |
litters,in |
| R779 |
T6758 |
T6757 |
prep |
of,litters |
| R780 |
T6793 |
T6794 |
punct |
[,1 |
| R781 |
T6759 |
T6758 |
pobj |
mice,of |
| R782 |
T6760 |
T6757 |
prep |
with,litters |
| R783 |
T6761 |
T6762 |
det |
a,total |
| R784 |
T6794 |
T6754 |
parataxis |
1,resulted |
| R785 |
T6762 |
T6760 |
pobj |
total,with |
| R786 |
T6795 |
T6794 |
punct |
],1 |
| R787 |
T6763 |
T6762 |
prep |
of,total |
| R788 |
T6796 |
T6754 |
punct |
.,resulted |
| R789 |
T6764 |
T6765 |
nummod |
four,pups |
| R790 |
T6765 |
T6763 |
pobj |
pups,of |
| R791 |
T6766 |
T6765 |
amod |
affected,pups |
| R792 |
T6798 |
T6799 |
advmod |
Furthermore,was |
| R793 |
T6767 |
T6768 |
compound |
Itpr1opt,Δ18 |
| R794 |
T6768 |
T6765 |
compound |
Δ18,pups |
| R795 |
T6769 |
T6768 |
punct |
/,Δ18 |
| R796 |
T6770 |
T6762 |
punct |
(,total |
| R797 |
T6800 |
T6799 |
punct |
", ",was |
| R798 |
T6771 |
T6762 |
prep |
from,total |
| R799 |
T6772 |
T6773 |
det |
a,total |
| R800 |
T6773 |
T6771 |
pobj |
total,from |
| R801 |
T6801 |
T6802 |
det |
this,phenotype |
| R802 |
T6774 |
T6773 |
prep |
of,total |
| R803 |
T6775 |
T6774 |
pobj |
15,of |
| R804 |
T6776 |
T6762 |
punct |
),total |
| R805 |
T6802 |
T6799 |
nsubj |
phenotype,was |
| R806 |
T6777 |
T6762 |
prep |
with,total |
| R807 |
T6778 |
T6779 |
det |
a,phenotype |
| R808 |
T6779 |
T6777 |
pobj |
phenotype,with |
| R809 |
T6803 |
T6799 |
acomp |
similar,was |
| R810 |
T6780 |
T6779 |
amod |
indistinguishable,phenotype |
| R811 |
T6781 |
T6780 |
prep |
from,indistinguishable |
| R812 |
T6782 |
T6781 |
pobj |
that,from |
| R813 |
T6783 |
T6782 |
prep |
of,that |
| R814 |
T6784 |
T6785 |
det |
the,mice |
| R815 |
T6785 |
T6783 |
pobj |
mice,of |
| R816 |
T6804 |
T6799 |
punct |
", ",was |
| R817 |
T6786 |
T6787 |
nmod |
Itpr1Δ18,Δ18 |
| R818 |
T6787 |
T6785 |
nmod |
Δ18,mice |
| R819 |
T6788 |
T6787 |
punct |
/,Δ18 |
| R820 |
T6805 |
T6806 |
mark |
although,severe |
| R821 |
T6806 |
T6799 |
advcl |
severe,was |
| R822 |
T6807 |
T6806 |
advmod |
less,severe |
| R823 |
T6895 |
T6896 |
det |
the,mouse |
| R824 |
T6808 |
T6799 |
punct |
", ",was |
| R825 |
T6896 |
T6894 |
pobj |
mouse,in |
| R826 |
T6897 |
T6898 |
npadvmod |
Itpr1,deficient |
| R827 |
T6898 |
T6896 |
amod |
deficient,mouse |
| R828 |
T6809 |
T6799 |
prep |
to,was |
| R829 |
T6899 |
T6898 |
punct |
-,deficient |
| R830 |
T6810 |
T6809 |
pobj |
that,to |
| R831 |
T6900 |
T6901 |
punct |
[,4 |
| R832 |
T6901 |
T6896 |
parataxis |
4,mouse |
| R833 |
T6902 |
T6901 |
punct |
],4 |
| R834 |
T6811 |
T6810 |
acl |
described,that |
| R835 |
T6903 |
T6896 |
acl |
generated,mouse |
| R836 |
T6904 |
T6903 |
prep |
by,generated |
| R837 |
T6905 |
T6906 |
compound |
gene,targeting |
| R838 |
T6906 |
T6904 |
pobj |
targeting,by |
| R839 |
T6812 |
T6811 |
prep |
in,described |
| R840 |
T6907 |
T6885 |
punct |
", ",associated |
| R841 |
T6908 |
T6909 |
amod |
decreased,expression |
| R842 |
T6813 |
T6814 |
det |
a,line |
| R843 |
T6909 |
T6885 |
nsubjpass |
expression,associated |
| R844 |
T6910 |
T6909 |
compound |
Itpr1,expression |
| R845 |
T6911 |
T6885 |
auxpass |
is,associated |
| R846 |
T6814 |
T6812 |
pobj |
line,in |
| R847 |
T6912 |
T6885 |
prep |
with,associated |
| R848 |
T6913 |
T6914 |
det |
the,disorder |
| R849 |
T6914 |
T6912 |
pobj |
disorder,with |
| R850 |
T6915 |
T6914 |
amod |
same,disorder |
| R851 |
T6815 |
T6814 |
compound |
mouse,line |
| R852 |
T6916 |
T6914 |
amod |
autosomal,disorder |
| R853 |
T6917 |
T6914 |
amod |
recessive,disorder |
| R854 |
T6816 |
T6814 |
prep |
with,line |
| R855 |
T6918 |
T6914 |
compound |
movement,disorder |
| R856 |
T6919 |
T6920 |
punct |
(,Figure |
| R857 |
T6920 |
T6885 |
parataxis |
Figure,associated |
| R858 |
T6921 |
T6920 |
nummod |
1,Figure |
| R859 |
T6817 |
T6818 |
amod |
targeted,deletion |
| R860 |
T6922 |
T6920 |
punct |
),Figure |
| R861 |
T6923 |
T6885 |
punct |
.,associated |
| R862 |
T6818 |
T6816 |
pobj |
deletion,with |
| R863 |
T6925 |
T6926 |
prep |
Given,sought |
| R864 |
T6927 |
T6928 |
poss |
our,interest |
| R865 |
T6928 |
T6925 |
pobj |
interest,Given |
| R866 |
T6929 |
T6928 |
prep |
in,interest |
| R867 |
T6930 |
T6931 |
amod |
human,disease |
| R868 |
T6819 |
T6818 |
prep |
of,deletion |
| R869 |
T6931 |
T6929 |
pobj |
disease,in |
| R870 |
T6932 |
T6931 |
amod |
neurological,disease |
| R871 |
T6820 |
T6819 |
pobj |
Itpr1,of |
| R872 |
T6821 |
T6820 |
punct |
", ",Itpr1 |
| R873 |
T6933 |
T6926 |
nsubj |
we,sought |
| R874 |
T6934 |
T6935 |
aux |
to,identify |
| R875 |
T6822 |
T6823 |
advmod |
where,described |
| R876 |
T6823 |
T6820 |
relcl |
described,Itpr1 |
| R877 |
T6935 |
T6926 |
xcomp |
identify,sought |
| R878 |
T6824 |
T6823 |
nsubjpass |
ataxia,described |
| R879 |
T6936 |
T6937 |
det |
any,disorders |
| R880 |
T6937 |
T6935 |
dobj |
disorders,identify |
| R881 |
T6825 |
T6823 |
auxpass |
was,described |
| R882 |
T6938 |
T6937 |
amod |
cognate,disorders |
| R883 |
T6939 |
T6937 |
amod |
human,disorders |
| R884 |
T6826 |
T6823 |
prep |
as,described |
| R885 |
T6940 |
T6941 |
advmod |
where,established |
| R886 |
T6827 |
T6828 |
det |
a,feature |
| R887 |
T6941 |
T6937 |
advcl |
established,disorders |
| R888 |
T6942 |
T6941 |
nsubjpass |
linkage,established |
| R889 |
T6943 |
T6941 |
aux |
had,established |
| R890 |
T6828 |
T6826 |
pobj |
feature,as |
| R891 |
T6944 |
T6941 |
auxpass |
been,established |
| R892 |
T6945 |
T6941 |
prep |
to,established |
| R893 |
T6829 |
T6828 |
amod |
prominent,feature |
| R894 |
T6946 |
T6947 |
det |
the,region |
| R895 |
T6947 |
T6945 |
pobj |
region,to |
| R896 |
T6948 |
T6947 |
amod |
syntenic,region |
| R897 |
T6830 |
T6831 |
punct |
[,4 |
| R898 |
T6949 |
T6947 |
prep |
of,region |
| R899 |
T6950 |
T6951 |
det |
the,genome |
| R900 |
T6951 |
T6949 |
pobj |
genome,of |
| R901 |
T6831 |
T6799 |
parataxis |
4,was |
| R902 |
T6952 |
T6951 |
amod |
human,genome |
| R903 |
T6953 |
T6941 |
punct |
", ",established |
| R904 |
T6954 |
T6941 |
cc |
but,established |
| R905 |
T6832 |
T6831 |
punct |
],4 |
| R906 |
T6955 |
T6956 |
advmod |
where,identified |
| R907 |
T6956 |
T6941 |
conj |
identified,established |
| R908 |
T6833 |
T6799 |
punct |
.,was |
| R909 |
T6957 |
T6958 |
det |
no,mutation |
| R910 |
T6958 |
T6956 |
nsubjpass |
mutation,identified |
| R911 |
T6959 |
T6958 |
amod |
causal,mutation |
| R912 |
T6835 |
T6836 |
prep |
As,results |
| R913 |
T6960 |
T6956 |
aux |
had,identified |
| R914 |
T6961 |
T6956 |
auxpass |
been,identified |
| R915 |
T6962 |
T6926 |
punct |
.,sought |
| R916 |
T6837 |
T6835 |
prep |
with,As |
| R917 |
T6964 |
T6965 |
nsubjpass |
SCA15,linked |
| R918 |
T6966 |
T6964 |
punct |
", ",SCA15 |
| R919 |
T6967 |
T6968 |
det |
an,ataxia |
| R920 |
T6968 |
T6964 |
appos |
ataxia,SCA15 |
| R921 |
T6969 |
T6970 |
amod |
adult,onset |
| R922 |
T6970 |
T6968 |
nmod |
onset,ataxia |
| R923 |
T6838 |
T6839 |
det |
the,mice |
| R924 |
T6971 |
T6970 |
punct |
-,onset |
| R925 |
T6972 |
T6973 |
amod |
autosomal,dominant |
| R926 |
T6973 |
T6968 |
amod |
dominant,ataxia |
| R927 |
T6839 |
T6837 |
pobj |
mice,with |
| R928 |
T6974 |
T6968 |
amod |
progressive,ataxia |
| R929 |
T6975 |
T6965 |
auxpass |
is,linked |
| R930 |
T6976 |
T6965 |
prep |
to,linked |
| R931 |
T6840 |
T6841 |
compound |
Itpr1opt,opt |
| R932 |
T6977 |
T6978 |
det |
this,locus |
| R933 |
T6978 |
T6976 |
pobj |
locus,to |
| R934 |
T6841 |
T6839 |
compound |
opt,mice |
| R935 |
T6979 |
T6980 |
punct |
[,5 |
| R936 |
T6980 |
T6965 |
parataxis |
5,linked |
| R937 |
T6842 |
T6841 |
punct |
/,opt |
| R938 |
T6981 |
T6980 |
punct |
],5 |
| R939 |
T6982 |
T6965 |
punct |
.,linked |
| R940 |
T6843 |
T6839 |
punct |
", ",mice |
| R941 |
T6984 |
T6985 |
mark |
Although,ruled |
| R942 |
T6985 |
T6993 |
advcl |
ruled,led |
| R943 |
T6986 |
T6987 |
compound |
missense,mutation |
| R944 |
T6844 |
T6845 |
advmod |
where,predicted |
| R945 |
T6987 |
T6985 |
nsubjpass |
mutation,ruled |
| R946 |
T6988 |
T6987 |
prep |
of,mutation |
| R947 |
T6989 |
T6988 |
pobj |
ITPR1,of |
| R948 |
T6845 |
T6839 |
relcl |
predicted,mice |
| R949 |
T6990 |
T6985 |
aux |
had,ruled |
| R950 |
T6991 |
T6985 |
advmod |
previously,ruled |
| R951 |
T6992 |
T6985 |
auxpass |
been,ruled |
| R952 |
T6846 |
T6847 |
det |
the,deletion |
| R953 |
T6994 |
T6985 |
prt |
out,ruled |
| R954 |
T6995 |
T6996 |
punct |
[,2 |
| R955 |
T6847 |
T6845 |
nsubjpass |
deletion,predicted |
| R956 |
T6996 |
T6985 |
parataxis |
2,ruled |
| R957 |
T6997 |
T6996 |
punct |
],2 |
| R958 |
T6998 |
T6985 |
cc |
and,ruled |
| R959 |
T6848 |
T6847 |
prep |
of,deletion |
| R960 |
T6999 |
T7000 |
det |
the,mode |
| R961 |
T7000 |
T7001 |
nsubj |
mode,was |
| R962 |
T6849 |
T6850 |
nmod |
exons,43 |
| R963 |
T6850 |
T6848 |
pobj |
43,of |
| R964 |
T7001 |
T6985 |
conj |
was,ruled |
| R965 |
T6851 |
T6850 |
cc |
and,43 |
| R966 |
T7002 |
T7000 |
prep |
of,mode |
| R967 |
T7003 |
T7002 |
pobj |
inheritance,of |
| R968 |
T7004 |
T7001 |
acomp |
inconsistent,was |
| R969 |
T7005 |
T7004 |
prep |
with,inconsistent |
| R970 |
T7006 |
T7005 |
pobj |
that,with |
| R971 |
T7007 |
T7006 |
acl |
seen,that |
| R972 |
T6852 |
T6850 |
conj |
44,43 |
| R973 |
T7008 |
T7007 |
prep |
in,seen |
| R974 |
T7009 |
T7010 |
det |
the,mice |
| R975 |
T7010 |
T7008 |
pobj |
mice,in |
| R976 |
T6853 |
T6845 |
auxpass |
is,predicted |
| R977 |
T7011 |
T7010 |
nmod |
Itpr1Δ18,mice |
| R978 |
T7012 |
T7011 |
cc |
and,Itpr1Δ18 |
| R979 |
T7013 |
T7011 |
conj |
Itpr1opt,Itpr1Δ18 |
| R980 |
T6854 |
T6845 |
advmod |
also,predicted |
| R981 |
T7014 |
T6993 |
punct |
", ",led |
| R982 |
T7015 |
T7016 |
det |
the,presence |
| R983 |
T7016 |
T6993 |
nsubj |
presence,led |
| R984 |
T6855 |
T6856 |
aux |
to,leave |
| R985 |
T7017 |
T7016 |
amod |
phenotypic,presence |
| R986 |
T6856 |
T6845 |
xcomp |
leave,predicted |
| R987 |
T6857 |
T6858 |
det |
the,frame |
| R988 |
T7018 |
T7016 |
prep |
of,presence |
| R989 |
T7019 |
T7018 |
pobj |
ataxia,of |
| R990 |
T6858 |
T6856 |
dobj |
frame,leave |
| R991 |
T7020 |
T7016 |
prep |
in,presence |
| R992 |
T7021 |
T7022 |
det |
the,mice |
| R993 |
T6859 |
T6858 |
amod |
translational,frame |
| R994 |
T7022 |
T7020 |
pobj |
mice,in |
| R995 |
T7023 |
T6993 |
dobj |
us,led |
| R996 |
T6860 |
T6858 |
compound |
reading,frame |
| R997 |
T7024 |
T7025 |
aux |
to,reexamine |
| R998 |
T7025 |
T6993 |
xcomp |
reexamine,led |
| R999 |
T7026 |
T7027 |
det |
this,gene |
| R1000 |
T6861 |
T6856 |
oprd |
unaffected,leave |
| R1001 |
T7027 |
T7025 |
dobj |
gene,reexamine |
| R1002 |
T7028 |
T7027 |
compound |
candidate,gene |
| R1003 |
T6862 |
T6836 |
punct |
", ",results |
| R1004 |
T7029 |
T7025 |
prep |
as,reexamine |
| R1005 |
T7030 |
T7031 |
det |
a,cause |
| R1006 |
T7031 |
T7029 |
pobj |
cause,as |
| R1007 |
T6863 |
T6864 |
det |
the,mutation |
| R1008 |
T7032 |
T7031 |
amod |
possible,cause |
| R1009 |
T7033 |
T7031 |
prep |
of,cause |
| R1010 |
T6864 |
T6836 |
nsubj |
mutation,results |
| R1011 |
T7034 |
T7033 |
pobj |
SCA15,of |
| R1012 |
T7035 |
T6993 |
punct |
.,led |
| R1013 |
T6865 |
T6864 |
nmod |
in,mutation |
| R1014 |
T7037 |
T7038 |
nsubj |
We,obtained |
| R1015 |
T7039 |
T7040 |
amod |
genomic,DNA |
| R1016 |
T6866 |
T6865 |
punct |
-,in |
| R1017 |
T7040 |
T7038 |
dobj |
DNA,obtained |
| R1018 |
T7041 |
T7038 |
prep |
from,obtained |
| R1019 |
T7042 |
T7043 |
nummod |
three,members |
| R1020 |
T6867 |
T6865 |
pobj |
frame,in |
| R1021 |
T7043 |
T7041 |
pobj |
members,from |
| R1022 |
T7044 |
T7043 |
amod |
affected,members |
| R1023 |
T7045 |
T7043 |
compound |
family,members |
| R1024 |
T7046 |
T7043 |
cc |
and,members |
| R1025 |
T7047 |
T7048 |
nummod |
one,member |
| R1026 |
T7048 |
T7043 |
conj |
member,members |
| R1027 |
T6868 |
T6869 |
compound |
Itpr1Δ18,Δ18 |
| R1028 |
T7049 |
T7048 |
compound |
family,member |
| R1029 |
T7050 |
T7048 |
prep |
with,member |
| R1030 |
T7051 |
T7052 |
amod |
unknown,status |
| R1031 |
T6869 |
T6864 |
compound |
Δ18,mutation |
| R1032 |
T7052 |
T7050 |
pobj |
status,with |
| R1033 |
T7053 |
T7052 |
compound |
disease,status |
| R1034 |
T7054 |
T7043 |
prep |
from,members |
| R1035 |
T6870 |
T6869 |
punct |
/,Δ18 |
| R1036 |
T7055 |
T7056 |
det |
the,kindred |
| R1037 |
T7056 |
T7054 |
pobj |
kindred,from |
| R1038 |
T6871 |
T6864 |
compound |
deletion,mutation |
| R1039 |
T7057 |
T7058 |
advmod |
originally,used |
| R1040 |
T7058 |
T7056 |
acl |
used,kindred |
| R1041 |
T7059 |
T7060 |
aux |
to,define |
| R1042 |
T6872 |
T6836 |
prep |
in,results |
| R1043 |
T7060 |
T7058 |
advcl |
define,used |
| R1044 |
T7061 |
T7060 |
cc |
and,define |
| R1045 |
T7062 |
T7060 |
conj |
map,define |
| R1046 |
T6873 |
T6874 |
advmod |
markedly,decreased |
| R1047 |
T7063 |
T7062 |
dobj |
SCA15,map |
| R1048 |
T7064 |
T7065 |
punct |
(,AUS1 |
| R1049 |
T7065 |
T7063 |
parataxis |
AUS1,SCA15 |
| R1050 |
T6874 |
T6875 |
amod |
decreased,levels |
| R1051 |
T7066 |
T7065 |
compound |
family,AUS1 |
| R1052 |
T7067 |
T7065 |
punct |
", ",AUS1 |
| R1053 |
T7068 |
T7065 |
prep |
of,AUS1 |
| R1054 |
T6875 |
T6872 |
pobj |
levels,in |
| R1055 |
T7069 |
T7070 |
amod |
Australian,origin |
| R1056 |
T7070 |
T7068 |
pobj |
origin,of |
| R1057 |
T7071 |
T7072 |
advmod |
Anglo,Celtic |
| R1058 |
T6876 |
T6875 |
prep |
of,levels |
| R1059 |
T7072 |
T7070 |
amod |
Celtic,origin |
| R1060 |
T7073 |
T7072 |
punct |
-,Celtic |
| R1061 |
T7074 |
T7065 |
punct |
),AUS1 |
| R1062 |
T6877 |
T6876 |
pobj |
Itpr1,of |
| R1063 |
T7075 |
T7076 |
punct |
[,2 |
| R1064 |
T7076 |
T7038 |
parataxis |
2,obtained |
| R1065 |
T7077 |
T7076 |
punct |
],2 |
| R1066 |
T6878 |
T6836 |
prep |
in,results |
| R1067 |
T7078 |
T7038 |
punct |
.,obtained |
| R1068 |
T6879 |
T6880 |
amod |
cerebellar,cells |
| R1069 |
T7080 |
T7081 |
nsubj |
We,performed |
| R1070 |
T7082 |
T7083 |
nummod |
two,experiments |
| R1071 |
T6880 |
T6878 |
pobj |
cells,in |
| R1072 |
T7083 |
T7081 |
dative |
experiments,performed |
| R1073 |
T7084 |
T7081 |
advmod |
concurrently,performed |
| R1074 |
T7085 |
T7081 |
prep |
in,performed |
| R1075 |
T7086 |
T7087 |
nummod |
three,members |
| R1076 |
T7087 |
T7085 |
pobj |
members,in |
| R1077 |
T7088 |
T7087 |
amod |
affected,members |
| R1078 |
T6881 |
T6880 |
compound |
Purkinje,cells |
| R1079 |
T7089 |
T7087 |
prep |
of,members |
| R1080 |
T7090 |
T7091 |
det |
this,family |
| R1081 |
T7091 |
T7089 |
pobj |
family,of |
| R1082 |
T6882 |
T6836 |
punct |
.,results |
| R1083 |
T7092 |
T7081 |
punct |
: ,performed |
| R1084 |
T7093 |
T7094 |
compound |
sequence,analysis |
| R1085 |
T7094 |
T7081 |
dobj |
analysis,performed |
| R1086 |
T6884 |
T6885 |
prep |
In,associated |
| R1087 |
T7095 |
T7094 |
prep |
of,analysis |
| R1088 |
T7096 |
T7097 |
det |
the,exons |
| R1089 |
T7097 |
T7095 |
pobj |
exons,of |
| R1090 |
T7098 |
T7097 |
amod |
coding,exons |
| R1091 |
T6886 |
T6887 |
det |
these,mutants |
| R1092 |
T7099 |
T7097 |
prep |
of,exons |
| R1093 |
T7100 |
T7099 |
pobj |
ITPR1,of |
| R1094 |
T7101 |
T7094 |
cc |
and,analysis |
| R1095 |
T7102 |
T7103 |
amod |
high,density |
| R1096 |
T6887 |
T6884 |
pobj |
mutants,In |
| R1097 |
T6888 |
T6887 |
nummod |
two,mutants |
| R1098 |
T7103 |
T7105 |
nmod |
density,genotyping |
| R1099 |
T7104 |
T7103 |
punct |
-,density |
| R1100 |
T6889 |
T6887 |
amod |
spontaneous,mutants |
| R1101 |
T7105 |
T7094 |
conj |
genotyping,analysis |
| R1102 |
T7106 |
T7105 |
nmod |
genome,genotyping |
| R1103 |
T6890 |
T6891 |
punct |
[,1 |
| R1104 |
T6891 |
T6887 |
parataxis |
1,mutants |
| R1105 |
T6892 |
T6891 |
punct |
],1 |
| R1106 |
T7107 |
T7106 |
punct |
-,genome |
| R1107 |
T7108 |
T7106 |
amod |
wide,genome |
| R1108 |
T7109 |
T7105 |
compound |
SNP,genotyping |
| R1109 |
T6893 |
T6884 |
cc |
and,In |
| R1110 |
T7110 |
T7081 |
punct |
.,performed |
| R1111 |
T6894 |
T6884 |
conj |
in,In |
| R1112 |
T7112 |
T7113 |
compound |
Sequence,analysis |
| R1113 |
T7113 |
T7114 |
nsubj |
analysis,failed |
| R1114 |
T7213 |
T7212 |
compound |
affection,status |
| R1115 |
T7115 |
T7116 |
aux |
to,show |
| R1116 |
T7116 |
T7114 |
xcomp |
show,failed |
| R1117 |
T7117 |
T7118 |
det |
any,alterations |
| R1118 |
T7118 |
T7116 |
dobj |
alterations,show |
| R1119 |
T7214 |
T7215 |
punct |
(,Figure |
| R1120 |
T7119 |
T7118 |
compound |
coding,alterations |
| R1121 |
T7120 |
T7118 |
acl |
segregating,alterations |
| R1122 |
T7121 |
T7120 |
prep |
with,segregating |
| R1123 |
T7215 |
T7195 |
parataxis |
Figure,was |
| R1124 |
T7122 |
T7121 |
pobj |
disease,with |
| R1125 |
T7123 |
T7122 |
cc |
or,disease |
| R1126 |
T7124 |
T7125 |
det |
any,alterations |
| R1127 |
T7125 |
T7122 |
conj |
alterations,disease |
| R1128 |
T7126 |
T7127 |
dep |
that,were |
| R1129 |
T7216 |
T7215 |
nummod |
3,Figure |
| R1130 |
T7127 |
T7125 |
relcl |
were,alterations |
| R1131 |
T7128 |
T7127 |
acomp |
inconsistent,were |
| R1132 |
T7129 |
T7128 |
prep |
with,inconsistent |
| R1133 |
T7217 |
T7215 |
punct |
),Figure |
| R1134 |
T7130 |
T7131 |
amod |
Mendelian,patterns |
| R1135 |
T7131 |
T7129 |
pobj |
patterns,with |
| R1136 |
T7132 |
T7131 |
prep |
of,patterns |
| R1137 |
T7218 |
T7195 |
punct |
.,was |
| R1138 |
T7133 |
T7132 |
pobj |
inheritance,of |
| R1139 |
T7134 |
T7131 |
prep |
within,patterns |
| R1140 |
T7135 |
T7136 |
det |
the,family |
| R1141 |
T7220 |
T7221 |
det |
The,data |
| R1142 |
T7136 |
T7134 |
pobj |
family,within |
| R1143 |
T7137 |
T7114 |
punct |
.,failed |
| R1144 |
T7139 |
T7140 |
advmod |
However,showed |
| R1145 |
T7221 |
T7223 |
nsubj |
data,showed |
| R1146 |
T7141 |
T7140 |
punct |
", ",showed |
| R1147 |
T7222 |
T7221 |
compound |
SNP,data |
| R1148 |
T7142 |
T7140 |
nsubj |
visualization,showed |
| R1149 |
T7143 |
T7142 |
prep |
of,visualization |
| R1150 |
T7144 |
T7145 |
compound |
log,R |
| R1151 |
T7223 |
T7224 |
ccomp |
showed,allowed |
| R1152 |
T7145 |
T7146 |
compound |
R,ratio |
| R1153 |
T7146 |
T7143 |
pobj |
ratio,of |
| R1154 |
T7147 |
T7146 |
cc |
and,ratio |
| R1155 |
T7225 |
T7226 |
det |
a,deletion |
| R1156 |
T7148 |
T7149 |
compound |
B,allele |
| R1157 |
T7149 |
T7150 |
compound |
allele,metrics |
| R1158 |
T7150 |
T7146 |
conj |
metrics,ratio |
| R1159 |
T7226 |
T7223 |
dobj |
deletion,showed |
| R1160 |
T7151 |
T7150 |
compound |
frequency,metrics |
| R1161 |
T7152 |
T7150 |
prep |
from,metrics |
| R1162 |
T7153 |
T7154 |
det |
the,experiments |
| R1163 |
T7227 |
T7226 |
prep |
of,deletion |
| R1164 |
T7154 |
T7152 |
pobj |
experiments,from |
| R1165 |
T7155 |
T7156 |
npadvmod |
genome,wide |
| R1166 |
T7156 |
T7154 |
amod |
wide,experiments |
| R1167 |
T7228 |
T7227 |
prep |
between,of |
| R1168 |
T7157 |
T7156 |
punct |
-,wide |
| R1169 |
T7158 |
T7154 |
compound |
SNP,experiments |
| R1170 |
T7159 |
T7154 |
compound |
genotyping,experiments |
| R1171 |
T7229 |
T7230 |
nummod |
188,kb |
| R1172 |
T7160 |
T7140 |
advmod |
clearly,showed |
| R1173 |
T7161 |
T7140 |
dobj |
data,showed |
| R1174 |
T7230 |
T7228 |
pobj |
kb,between |
| R1175 |
T7162 |
T7161 |
amod |
consistent,data |
| R1176 |
T7163 |
T7162 |
prep |
with,consistent |
| R1177 |
T7164 |
T7165 |
det |
a,deletion |
| R1178 |
T7165 |
T7163 |
pobj |
deletion,with |
| R1179 |
T7166 |
T7165 |
amod |
heterozygous,deletion |
| R1180 |
T7167 |
T7165 |
amod |
genomic,deletion |
| R1181 |
T7231 |
T7230 |
cc |
and,kb |
| R1182 |
T7168 |
T7165 |
prep |
across,deletion |
| R1183 |
T7169 |
T7170 |
det |
the,third |
| R1184 |
T7170 |
T7168 |
pobj |
third,across |
| R1185 |
T7171 |
T7170 |
amod |
first,third |
| R1186 |
T7232 |
T7233 |
nummod |
210,kb |
| R1187 |
T7172 |
T7170 |
nummod |
one,third |
| R1188 |
T7173 |
T7170 |
punct |
-,third |
| R1189 |
T7174 |
T7170 |
prep |
of,third |
| R1190 |
T7233 |
T7230 |
conj |
kb,kb |
| R1191 |
T7175 |
T7174 |
pobj |
ITPR1,of |
| R1192 |
T7176 |
T7168 |
cc |
and,across |
| R1193 |
T7177 |
T7168 |
conj |
across,across |
| R1194 |
T7234 |
T7230 |
prep |
in,kb |
| R1195 |
T7178 |
T7179 |
det |
the,half |
| R1196 |
T7179 |
T7177 |
pobj |
half,across |
| R1197 |
T7180 |
T7179 |
amod |
first,half |
| R1198 |
T7235 |
T7234 |
pobj |
size,in |
| R1199 |
T7181 |
T7179 |
prep |
of,half |
| R1200 |
T7182 |
T7183 |
det |
a,gene |
| R1201 |
T7183 |
T7181 |
pobj |
gene,of |
| R1202 |
T7236 |
T7224 |
punct |
;,allowed |
| R1203 |
T7184 |
T7183 |
amod |
neighboring,gene |
| R1204 |
T7185 |
T7183 |
punct |
", ",gene |
| R1205 |
T7186 |
T7183 |
appos |
SUMF1,gene |
| R1206 |
T7237 |
T7224 |
nsubj |
examination,allowed |
| R1207 |
T7187 |
T7188 |
punct |
(,Figure |
| R1208 |
T7238 |
T7237 |
prep |
of,examination |
| R1209 |
T7239 |
T7238 |
pobj |
SNPs,of |
| R1210 |
T7188 |
T7140 |
parataxis |
Figure,showed |
| R1211 |
T7240 |
T7239 |
prep |
at,SNPs |
| R1212 |
T7189 |
T7188 |
nummod |
2,Figure |
| R1213 |
T7190 |
T7188 |
punct |
),Figure |
| R1214 |
T7191 |
T7140 |
punct |
.,showed |
| R1215 |
T7241 |
T7242 |
det |
the,regions |
| R1216 |
T7193 |
T7194 |
det |
This,deletion |
| R1217 |
T7242 |
T7240 |
pobj |
regions,at |
| R1218 |
T7194 |
T7195 |
nsubj |
deletion,was |
| R1219 |
T7243 |
T7242 |
amod |
flanking,regions |
| R1220 |
T7196 |
T7195 |
acomp |
apparent,was |
| R1221 |
T7197 |
T7196 |
prep |
in,apparent |
| R1222 |
T7244 |
T7242 |
amod |
unknown,regions |
| R1223 |
T7198 |
T7199 |
det |
all,members |
| R1224 |
T7245 |
T7242 |
prep |
of,regions |
| R1225 |
T7199 |
T7197 |
pobj |
members,in |
| R1226 |
T7200 |
T7199 |
nummod |
three,members |
| R1227 |
T7201 |
T7199 |
amod |
affected,members |
| R1228 |
T7246 |
T7247 |
det |
this,deletion |
| R1229 |
T7202 |
T7199 |
compound |
family,members |
| R1230 |
T7203 |
T7199 |
acl |
studied,members |
| R1231 |
T7204 |
T7196 |
cc |
and,apparent |
| R1232 |
T7205 |
T7196 |
conj |
absent,apparent |
| R1233 |
T7206 |
T7205 |
prep |
from,absent |
| R1234 |
T7207 |
T7208 |
det |
the,member |
| R1235 |
T7247 |
T7245 |
pobj |
deletion,of |
| R1236 |
T7208 |
T7206 |
pobj |
member,from |
| R1237 |
T7209 |
T7208 |
compound |
family,member |
| R1238 |
T7248 |
T7249 |
nsubj |
us,delimit |
| R1239 |
T7210 |
T7208 |
prep |
with,member |
| R1240 |
T7211 |
T7212 |
amod |
unknown,status |
| R1241 |
T7212 |
T7210 |
pobj |
status,with |
| R1242 |
T7249 |
T7224 |
ccomp |
delimit,allowed |
| R1243 |
T7250 |
T7249 |
aux |
to,delimit |
| R1244 |
T7251 |
T7252 |
det |
the,borders |
| R1245 |
T7252 |
T7249 |
dobj |
borders,delimit |
| R1246 |
T7253 |
T7252 |
prep |
of,borders |
| R1247 |
T7319 |
T7317 |
compound |
genotyping,chip |
| R1248 |
T7254 |
T7255 |
det |
the,deletion |
| R1249 |
T7320 |
T7317 |
punct |
", ",chip |
| R1250 |
T7321 |
T7317 |
prep |
from,chip |
| R1251 |
T7255 |
T7253 |
pobj |
deletion,of |
| R1252 |
T7322 |
T7323 |
nummod |
577,individuals |
| R1253 |
T7323 |
T7321 |
pobj |
individuals,from |
| R1254 |
T7256 |
T7249 |
prep |
to,delimit |
| R1255 |
T7324 |
T7323 |
prep |
of,individuals |
| R1256 |
T7325 |
T7326 |
amod |
European,descent |
| R1257 |
T7326 |
T7324 |
pobj |
descent,of |
| R1258 |
T7257 |
T7258 |
nummod |
7.5,kb |
| R1259 |
T7327 |
T7328 |
dep |
who,were |
| R1260 |
T7328 |
T7323 |
relcl |
were,individuals |
| R1261 |
T7329 |
T7330 |
preconj |
either,controls |
| R1262 |
T7258 |
T7256 |
pobj |
kb,to |
| R1263 |
T7330 |
T7328 |
attr |
controls,were |
| R1264 |
T7331 |
T7330 |
cc |
or,controls |
| R1265 |
T7332 |
T7330 |
conj |
individuals,controls |
| R1266 |
T7259 |
T7258 |
prep |
on,kb |
| R1267 |
T7333 |
T7332 |
prep |
with,individuals |
| R1268 |
T7334 |
T7335 |
det |
an,disorder |
| R1269 |
T7260 |
T7261 |
det |
the,side |
| R1270 |
T7335 |
T7333 |
pobj |
disorder,with |
| R1271 |
T7336 |
T7335 |
amod |
unrelated,disorder |
| R1272 |
T7337 |
T7335 |
amod |
neurological,disorder |
| R1273 |
T7261 |
T7259 |
pobj |
side,on |
| R1274 |
T7338 |
T7292 |
punct |
.,analyzed |
| R1275 |
T7262 |
T7261 |
amod |
telomeric,side |
| R1276 |
T7340 |
T7341 |
nsubj |
We,failed |
| R1277 |
T7341 |
T7342 |
ccomp |
failed,identify |
| R1278 |
T7263 |
T7261 |
prep |
of,side |
| R1279 |
T7343 |
T7344 |
aux |
to,find |
| R1280 |
T7344 |
T7341 |
xcomp |
find,failed |
| R1281 |
T7345 |
T7346 |
det |
any,deletions |
| R1282 |
T7346 |
T7344 |
dobj |
deletions,find |
| R1283 |
T7347 |
T7346 |
acl |
affecting,deletions |
| R1284 |
T7264 |
T7265 |
det |
the,deletion |
| R1285 |
T7348 |
T7349 |
det |
the,sequence |
| R1286 |
T7349 |
T7347 |
dobj |
sequence,affecting |
| R1287 |
T7350 |
T7349 |
compound |
coding,sequence |
| R1288 |
T7265 |
T7263 |
pobj |
deletion,of |
| R1289 |
T7351 |
T7349 |
prep |
of,sequence |
| R1290 |
T7352 |
T7353 |
det |
either,gene |
| R1291 |
T7353 |
T7351 |
pobj |
gene,of |
| R1292 |
T7266 |
T7261 |
punct |
(,side |
| R1293 |
T7354 |
T7353 |
punct |
", ",gene |
| R1294 |
T7355 |
T7353 |
appos |
ITPR1,gene |
| R1295 |
T7356 |
T7355 |
cc |
or,ITPR1 |
| R1296 |
T7267 |
T7261 |
prep |
between,side |
| R1297 |
T7357 |
T7355 |
conj |
SUMF1,ITPR1 |
| R1298 |
T7268 |
T7267 |
pobj |
rs12634249,between |
| R1299 |
T7358 |
T7342 |
punct |
;,identify |
| R1300 |
T7269 |
T7268 |
cc |
and,rs12634249 |
| R1301 |
T7359 |
T7342 |
nsubj |
we,identify |
| R1302 |
T7360 |
T7342 |
aux |
did,identify |
| R1303 |
T7361 |
T7342 |
punct |
", ",identify |
| R1304 |
T7270 |
T7268 |
conj |
rs793396,rs12634249 |
| R1305 |
T7362 |
T7342 |
advmod |
however,identify |
| R1306 |
T7363 |
T7342 |
punct |
", ",identify |
| R1307 |
T7364 |
T7365 |
det |
a,individual |
| R1308 |
T7271 |
T7261 |
punct |
),side |
| R1309 |
T7365 |
T7342 |
dobj |
individual,identify |
| R1310 |
T7366 |
T7365 |
amod |
single,individual |
| R1311 |
T7272 |
T7258 |
cc |
and,kb |
| R1312 |
T7367 |
T7365 |
prep |
with,individual |
| R1313 |
T7368 |
T7369 |
det |
a,deletion |
| R1314 |
T7273 |
T7274 |
punct |
~,14.4 |
| R1315 |
T7369 |
T7367 |
pobj |
deletion,with |
| R1316 |
T7370 |
T7369 |
amod |
possible,deletion |
| R1317 |
T7371 |
T7369 |
amod |
heterozygous,deletion |
| R1318 |
T7274 |
T7275 |
nummod |
14.4,kb |
| R1319 |
T7372 |
T7373 |
advmod |
approximately,6 |
| R1320 |
T7373 |
T7374 |
nummod |
6,kb |
| R1321 |
T7374 |
T7369 |
npadvmod |
kb,deletion |
| R1322 |
T7275 |
T7258 |
conj |
kb,kb |
| R1323 |
T7375 |
T7374 |
prep |
in,kb |
| R1324 |
T7376 |
T7375 |
pobj |
size,in |
| R1325 |
T7377 |
T7369 |
prep |
within,deletion |
| R1326 |
T7276 |
T7275 |
prep |
on,kb |
| R1327 |
T7378 |
T7379 |
nmod |
intron,40 |
| R1328 |
T7379 |
T7377 |
pobj |
40,within |
| R1329 |
T7277 |
T7278 |
det |
the,side |
| R1330 |
T7380 |
T7381 |
punct |
–,41 |
| R1331 |
T7381 |
T7379 |
prep |
41,40 |
| R1332 |
T7382 |
T7379 |
prep |
of,40 |
| R1333 |
T7383 |
T7382 |
pobj |
ITPR1,of |
| R1334 |
T7384 |
T7379 |
punct |
", ",40 |
| R1335 |
T7385 |
T7386 |
advmod |
at,5 |
| R1336 |
T7278 |
T7276 |
pobj |
side,on |
| R1337 |
T7386 |
T7388 |
nummod |
5,kb |
| R1338 |
T7387 |
T7386 |
advmod |
least,5 |
| R1339 |
T7388 |
T7389 |
npadvmod |
kb,away |
| R1340 |
T7279 |
T7278 |
amod |
centromeric,side |
| R1341 |
T7389 |
T7379 |
advmod |
away,40 |
| R1342 |
T7390 |
T7389 |
prep |
from,away |
| R1343 |
T7391 |
T7390 |
pobj |
exon,from |
| R1344 |
T7280 |
T7278 |
prep |
of,side |
| R1345 |
T7392 |
T7391 |
nummod |
40,exon |
| R1346 |
T7393 |
T7342 |
punct |
.,identify |
| R1347 |
T7281 |
T7282 |
det |
the,deletion |
| R1348 |
T7395 |
T7396 |
prep |
Given,is |
| R1349 |
T7282 |
T7280 |
pobj |
deletion,of |
| R1350 |
T7397 |
T7398 |
det |
the,location |
| R1351 |
T7398 |
T7395 |
pobj |
location,Given |
| R1352 |
T7283 |
T7278 |
punct |
(,side |
| R1353 |
T7399 |
T7398 |
prep |
of,location |
| R1354 |
T7400 |
T7401 |
det |
this,alteration |
| R1355 |
T7401 |
T7399 |
pobj |
alteration,of |
| R1356 |
T7284 |
T7278 |
prep |
between,side |
| R1357 |
T7402 |
T7396 |
nsubj |
it,is |
| R1358 |
T7403 |
T7396 |
acomp |
unlikely,is |
| R1359 |
T7404 |
T7405 |
aux |
to,effect |
| R1360 |
T7285 |
T7284 |
pobj |
rs4073665,between |
| R1361 |
T7405 |
T7403 |
xcomp |
effect,unlikely |
| R1362 |
T7406 |
T7407 |
det |
the,expression |
| R1363 |
T7407 |
T7405 |
dobj |
expression,effect |
| R1364 |
T7286 |
T7285 |
cc |
and,rs4073665 |
| R1365 |
T7408 |
T7407 |
cc |
or,expression |
| R1366 |
T7409 |
T7407 |
conj |
splicing,expression |
| R1367 |
T7410 |
T7407 |
prep |
of,expression |
| R1368 |
T7287 |
T7285 |
conj |
rs17709863,rs4073665 |
| R1369 |
T7411 |
T7410 |
pobj |
ITPR1,of |
| R1370 |
T7412 |
T7396 |
punct |
.,is |
| R1371 |
T7288 |
T7278 |
punct |
),side |
| R1372 |
T7414 |
T7415 |
prep |
In,performed |
| R1373 |
T7289 |
T7224 |
punct |
.,allowed |
| R1374 |
T7416 |
T7417 |
det |
an,attempt |
| R1375 |
T7417 |
T7414 |
pobj |
attempt,In |
| R1376 |
T7291 |
T7292 |
prep |
In,analyzed |
| R1377 |
T7418 |
T7419 |
aux |
to,map |
| R1378 |
T7419 |
T7417 |
acl |
map,attempt |
| R1379 |
T7420 |
T7419 |
advmod |
fine,map |
| R1380 |
T7421 |
T7419 |
punct |
-,map |
| R1381 |
T7293 |
T7294 |
det |
an,attempt |
| R1382 |
T7422 |
T7423 |
det |
the,breakpoints |
| R1383 |
T7423 |
T7419 |
dobj |
breakpoints,map |
| R1384 |
T7424 |
T7423 |
prep |
of,breakpoints |
| R1385 |
T7425 |
T7426 |
det |
the,deletion |
| R1386 |
T7294 |
T7291 |
pobj |
attempt,In |
| R1387 |
T7295 |
T7296 |
aux |
to,define |
| R1388 |
T7426 |
T7424 |
pobj |
deletion,of |
| R1389 |
T7296 |
T7294 |
acl |
define,attempt |
| R1390 |
T7427 |
T7428 |
npadvmod |
disease,causing |
| R1391 |
T7428 |
T7426 |
amod |
causing,deletion |
| R1392 |
T7297 |
T7298 |
mark |
whether,was |
| R1393 |
T7429 |
T7428 |
punct |
-,causing |
| R1394 |
T7430 |
T7415 |
nsubj |
we,performed |
| R1395 |
T7431 |
T7432 |
det |
a,series |
| R1396 |
T7298 |
T7296 |
ccomp |
was,define |
| R1397 |
T7432 |
T7415 |
dobj |
series,performed |
| R1398 |
T7433 |
T7432 |
prep |
of,series |
| R1399 |
T7299 |
T7300 |
det |
this,variation |
| R1400 |
T7434 |
T7433 |
pobj |
experiments,of |
| R1401 |
T7435 |
T7434 |
acl |
designed,experiments |
| R1402 |
T7436 |
T7437 |
aux |
to,refine |
| R1403 |
T7437 |
T7435 |
advcl |
refine,designed |
| R1404 |
T7300 |
T7298 |
nsubj |
variation,was |
| R1405 |
T7438 |
T7439 |
det |
the,intervals |
| R1406 |
T7439 |
T7437 |
dobj |
intervals,refine |
| R1407 |
T7301 |
T7302 |
det |
a,polymorphism |
| R1408 |
T7440 |
T7439 |
amod |
unknown,intervals |
| R1409 |
T7441 |
T7437 |
prep |
at,refine |
| R1410 |
T7442 |
T7443 |
det |
the,edges |
| R1411 |
T7302 |
T7298 |
attr |
polymorphism,was |
| R1412 |
T7303 |
T7302 |
amod |
benign,polymorphism |
| R1413 |
T7443 |
T7441 |
pobj |
edges,at |
| R1414 |
T7444 |
T7443 |
prep |
between,edges |
| R1415 |
T7304 |
T7292 |
nsubj |
we,analyzed |
| R1416 |
T7445 |
T7446 |
amod |
definite,deleted |
| R1417 |
T7446 |
T7447 |
amod |
deleted,sequences |
| R1418 |
T7305 |
T7306 |
npadvmod |
genome,wide |
| R1419 |
T7447 |
T7444 |
pobj |
sequences,between |
| R1420 |
T7448 |
T7446 |
cc |
and,deleted |
| R1421 |
T7449 |
T7450 |
amod |
definite,diploid |
| R1422 |
T7306 |
T7308 |
amod |
wide,data |
| R1423 |
T7450 |
T7446 |
conj |
diploid,deleted |
| R1424 |
T7451 |
T7415 |
punct |
.,performed |
| R1425 |
T7307 |
T7306 |
punct |
-,wide |
| R1426 |
T7453 |
T7454 |
det |
These,data |
| R1427 |
T7308 |
T7292 |
dobj |
data,analyzed |
| R1428 |
T7454 |
T7455 |
nsubj |
data,narrowed |
| R1429 |
T7309 |
T7308 |
compound |
SNP,data |
| R1430 |
T7456 |
T7457 |
det |
the,borders |
| R1431 |
T7457 |
T7455 |
dobj |
borders,narrowed |
| R1432 |
T7458 |
T7457 |
amod |
unknown,borders |
| R1433 |
T7310 |
T7308 |
prep |
at,data |
| R1434 |
T7459 |
T7455 |
prep |
to,narrowed |
| R1435 |
T7460 |
T7461 |
punct |
~,4 |
| R1436 |
T7311 |
T7312 |
det |
this,locus |
| R1437 |
T7461 |
T7462 |
nummod |
4,kb |
| R1438 |
T7462 |
T7459 |
pobj |
kb,to |
| R1439 |
T7463 |
T7462 |
prep |
on,kb |
| R1440 |
T7464 |
T7465 |
det |
the,side |
| R1441 |
T7465 |
T7463 |
pobj |
side,on |
| R1442 |
T7466 |
T7465 |
amod |
telomeric,side |
| R1443 |
T7312 |
T7310 |
pobj |
locus,at |
| R1444 |
T7467 |
T7462 |
cc |
and,kb |
| R1445 |
T7468 |
T7469 |
punct |
~,7 |
| R1446 |
T7469 |
T7470 |
nummod |
7,kb |
| R1447 |
T7313 |
T7308 |
punct |
", ",data |
| R1448 |
T7470 |
T7462 |
conj |
kb,kb |
| R1449 |
T7471 |
T7470 |
prep |
on,kb |
| R1450 |
T7472 |
T7473 |
det |
the,side |
| R1451 |
T7314 |
T7308 |
acl |
produced,data |
| R1452 |
T7473 |
T7471 |
pobj |
side,on |
| R1453 |
T7474 |
T7473 |
amod |
centromeric,side |
| R1454 |
T7315 |
T7314 |
advcl |
using,produced |
| R1455 |
T7475 |
T7455 |
punct |
.,narrowed |
| R1456 |
T7477 |
T7478 |
nsubj |
We,used |
| R1457 |
T7316 |
T7317 |
det |
the,chip |
| R1458 |
T7479 |
T7480 |
det |
all,combinations |
| R1459 |
T7317 |
T7315 |
dobj |
chip,using |
| R1460 |
T7480 |
T7478 |
dobj |
combinations,used |
| R1461 |
T7481 |
T7480 |
amod |
possible,combinations |
| R1462 |
T7482 |
T7480 |
prep |
of,combinations |
| R1463 |
T7318 |
T7317 |
amod |
same,chip |
| R1464 |
T7483 |
T7484 |
amod |
forward,orientation |
| R1465 |
T7484 |
T7485 |
compound |
orientation,primers |
| R1466 |
T7485 |
T7482 |
pobj |
primers,of |
| R1467 |
T7533 |
T7534 |
amod |
more,200 |
| R1468 |
T7486 |
T7485 |
acl |
designed,primers |
| R1469 |
T7487 |
T7486 |
prep |
within,designed |
| R1470 |
T7488 |
T7489 |
det |
the,boundary |
| R1471 |
T7489 |
T7487 |
pobj |
boundary,within |
| R1472 |
T7534 |
T7536 |
nummod |
200,kb |
| R1473 |
T7490 |
T7491 |
advmod |
newly,defined |
| R1474 |
T7491 |
T7489 |
amod |
defined,boundary |
| R1475 |
T7492 |
T7489 |
amod |
telomeric,boundary |
| R1476 |
T7493 |
T7482 |
cc |
and,of |
| R1477 |
T7535 |
T7534 |
quantmod |
than,200 |
| R1478 |
T7494 |
T7482 |
conj |
of,of |
| R1479 |
T7495 |
T7496 |
amod |
reverse,orientation |
| R1480 |
T7496 |
T7497 |
compound |
orientation,primers |
| R1481 |
T7536 |
T7537 |
npadvmod |
kb,apart |
| R1482 |
T7497 |
T7494 |
pobj |
primers,of |
| R1483 |
T7498 |
T7497 |
acl |
designed,primers |
| R1484 |
T7537 |
T7531 |
advmod |
apart,be |
| R1485 |
T7499 |
T7498 |
prep |
within,designed |
| R1486 |
T7500 |
T7501 |
det |
the,boundary |
| R1487 |
T7501 |
T7499 |
pobj |
boundary,within |
| R1488 |
T7538 |
T7523 |
punct |
", ",were |
| R1489 |
T7502 |
T7503 |
advmod |
newly,defined |
| R1490 |
T7503 |
T7501 |
amod |
defined,boundary |
| R1491 |
T7504 |
T7501 |
amod |
centromeric,boundary |
| R1492 |
T7505 |
T7478 |
prep |
in,used |
| R1493 |
T7506 |
T7507 |
compound |
PCR,assays |
| R1494 |
T7507 |
T7505 |
pobj |
assays,in |
| R1495 |
T7539 |
T7523 |
nsubj |
we,were |
| R1496 |
T7508 |
T7478 |
prep |
in,used |
| R1497 |
T7509 |
T7510 |
det |
an,attempt |
| R1498 |
T7510 |
T7508 |
pobj |
attempt,in |
| R1499 |
T7511 |
T7512 |
aux |
to,amplify |
| R1500 |
T7512 |
T7510 |
acl |
amplify,attempt |
| R1501 |
T7540 |
T7523 |
acomp |
able,were |
| R1502 |
T7513 |
T7512 |
prep |
across,amplify |
| R1503 |
T7514 |
T7515 |
det |
the,deletion |
| R1504 |
T7515 |
T7513 |
pobj |
deletion,across |
| R1505 |
T7541 |
T7542 |
aux |
to,amplify |
| R1506 |
T7516 |
T7515 |
prep |
in,deletion |
| R1507 |
T7517 |
T7518 |
amod |
affected,members |
| R1508 |
T7518 |
T7516 |
pobj |
members,in |
| R1509 |
T7542 |
T7540 |
xcomp |
amplify,able |
| R1510 |
T7519 |
T7518 |
compound |
family,members |
| R1511 |
T7520 |
T7478 |
punct |
.,used |
| R1512 |
T7543 |
T7544 |
det |
a,fragment |
| R1513 |
T7522 |
T7523 |
advcl |
Using,were |
| R1514 |
T7544 |
T7542 |
dobj |
fragment,amplify |
| R1515 |
T7524 |
T7525 |
compound |
PCR,primers |
| R1516 |
T7525 |
T7522 |
dobj |
primers,Using |
| R1517 |
T7526 |
T7525 |
appos |
T3F,primers |
| R1518 |
T7545 |
T7546 |
nummod |
953,bp |
| R1519 |
T7527 |
T7526 |
cc |
and,T3F |
| R1520 |
T7528 |
T7526 |
conj |
C11R,T3F |
| R1521 |
T7546 |
T7544 |
npadvmod |
bp,fragment |
| R1522 |
T7529 |
T7525 |
punct |
", ",primers |
| R1523 |
T7547 |
T7546 |
prep |
in,bp |
| R1524 |
T7530 |
T7531 |
dep |
which,be |
| R1525 |
T7531 |
T7525 |
relcl |
be,primers |
| R1526 |
T7548 |
T7547 |
pobj |
size,in |
| R1527 |
T7532 |
T7531 |
aux |
should,be |
| R1528 |
T7549 |
T7542 |
advcl |
using,amplify |
| R1529 |
T7550 |
T7549 |
dobj |
DNA,using |
| R1530 |
T7551 |
T7550 |
prep |
from,DNA |
| R1531 |
T7552 |
T7551 |
pobj |
each,from |
| R1532 |
T7639 |
T7638 |
pobj |
SCA15,of |
| R1533 |
T7640 |
T7630 |
nsubj |
we,analyzed |
| R1534 |
T7641 |
T7642 |
nummod |
two,families |
| R1535 |
T7553 |
T7552 |
prep |
of,each |
| R1536 |
T7642 |
T7630 |
dobj |
families,analyzed |
| R1537 |
T7643 |
T7642 |
amod |
additional,families |
| R1538 |
T7644 |
T7642 |
prep |
with,families |
| R1539 |
T7554 |
T7555 |
det |
the,members |
| R1540 |
T7645 |
T7646 |
det |
an,ataxia |
| R1541 |
T7646 |
T7644 |
pobj |
ataxia,with |
| R1542 |
T7647 |
T7646 |
amod |
inherited,ataxia |
| R1543 |
T7648 |
T7646 |
amod |
cerebellar,ataxia |
| R1544 |
T7649 |
T7646 |
amod |
similar,ataxia |
| R1545 |
T7555 |
T7553 |
pobj |
members,of |
| R1546 |
T7650 |
T7649 |
prep |
to,similar |
| R1547 |
T7651 |
T7650 |
pobj |
that,to |
| R1548 |
T7652 |
T7651 |
acl |
described,that |
| R1549 |
T7556 |
T7555 |
nummod |
three,members |
| R1550 |
T7653 |
T7652 |
prep |
in,described |
| R1551 |
T7654 |
T7655 |
det |
the,family |
| R1552 |
T7655 |
T7653 |
pobj |
family,in |
| R1553 |
T7557 |
T7555 |
amod |
affected,members |
| R1554 |
T7656 |
T7655 |
compound |
AUS1,family |
| R1555 |
T7657 |
T7652 |
punct |
", ",described |
| R1556 |
T7658 |
T7652 |
dep |
ascertained,described |
| R1557 |
T7558 |
T7555 |
compound |
family,members |
| R1558 |
T7659 |
T7658 |
prep |
through,ascertained |
| R1559 |
T7660 |
T7661 |
compound |
neurology,clinics |
| R1560 |
T7559 |
T7549 |
prep |
as,using |
| R1561 |
T7661 |
T7659 |
pobj |
clinics,through |
| R1562 |
T7662 |
T7661 |
prep |
in,clinics |
| R1563 |
T7663 |
T7662 |
pobj |
London,in |
| R1564 |
T7560 |
T7559 |
pobj |
template,as |
| R1565 |
T7664 |
T7663 |
punct |
", ",London |
| R1566 |
T7665 |
T7666 |
compound |
United,Kingdom |
| R1567 |
T7561 |
T7523 |
punct |
.,were |
| R1568 |
T7666 |
T7663 |
npadvmod |
Kingdom,London |
| R1569 |
T7667 |
T7630 |
punct |
.,analyzed |
| R1570 |
T7563 |
T7564 |
nsubj |
Sequencing,revealed |
| R1571 |
T7669 |
T7670 |
nsubjpass |
DNA,analyzed |
| R1572 |
T7671 |
T7669 |
acl |
extracted,DNA |
| R1573 |
T7672 |
T7671 |
prep |
from,extracted |
| R1574 |
T7565 |
T7563 |
prep |
of,Sequencing |
| R1575 |
T7673 |
T7672 |
pobj |
probands,from |
| R1576 |
T7674 |
T7673 |
prep |
from,probands |
| R1577 |
T7675 |
T7676 |
det |
these,families |
| R1578 |
T7676 |
T7674 |
pobj |
families,from |
| R1579 |
T7566 |
T7567 |
det |
this,fragment |
| R1580 |
T7677 |
T7676 |
nummod |
two,families |
| R1581 |
T7678 |
T7679 |
punct |
(,H33 |
| R1582 |
T7567 |
T7565 |
pobj |
fragment,of |
| R1583 |
T7679 |
T7676 |
parataxis |
H33,families |
| R1584 |
T7680 |
T7679 |
compound |
family,H33 |
| R1585 |
T7681 |
T7679 |
cc |
and,H33 |
| R1586 |
T7568 |
T7569 |
det |
a,deletion |
| R1587 |
T7682 |
T7683 |
compound |
family,H27 |
| R1588 |
T7683 |
T7679 |
conj |
H27,H33 |
| R1589 |
T7684 |
T7679 |
punct |
),H33 |
| R1590 |
T7569 |
T7564 |
dobj |
deletion,revealed |
| R1591 |
T7685 |
T7670 |
auxpass |
were,analyzed |
| R1592 |
T7686 |
T7670 |
advmod |
also,analyzed |
| R1593 |
T7687 |
T7670 |
advcl |
using,analyzed |
| R1594 |
T7688 |
T7689 |
compound |
Illumina,HumanHap550 |
| R1595 |
T7689 |
T7691 |
compound |
HumanHap550,chips |
| R1596 |
T7690 |
T7689 |
compound |
Infinium,HumanHap550 |
| R1597 |
T7691 |
T7687 |
dobj |
chips,using |
| R1598 |
T7570 |
T7569 |
prep |
of,deletion |
| R1599 |
T7692 |
T7691 |
compound |
genotyping,chips |
| R1600 |
T7693 |
T7670 |
punct |
.,analyzed |
| R1601 |
T7571 |
T7572 |
nummod |
"201,509",bp |
| R1602 |
T7695 |
T7696 |
det |
These,experiments |
| R1603 |
T7696 |
T7697 |
nsubj |
experiments,showed |
| R1604 |
T7572 |
T7570 |
pobj |
bp,of |
| R1605 |
T7698 |
T7697 |
dobj |
deletion,showed |
| R1606 |
T7699 |
T7697 |
prep |
at,showed |
| R1607 |
T7573 |
T7574 |
punct |
(,S3 |
| R1608 |
T7700 |
T7701 |
det |
the,locus |
| R1609 |
T7574 |
T7564 |
parataxis |
S3,revealed |
| R1610 |
T7701 |
T7699 |
pobj |
locus,at |
| R1611 |
T7575 |
T7574 |
compound |
Figure,S3 |
| R1612 |
T7702 |
T7701 |
compound |
SCA15,locus |
| R1613 |
T7703 |
T7697 |
prep |
in,showed |
| R1614 |
T7704 |
T7705 |
det |
all,members |
| R1615 |
T7576 |
T7574 |
punct |
),S3 |
| R1616 |
T7705 |
T7703 |
pobj |
members,in |
| R1617 |
T7706 |
T7705 |
amod |
affected,members |
| R1618 |
T7577 |
T7564 |
punct |
", ",revealed |
| R1619 |
T7578 |
T7564 |
advcl |
removing,revealed |
| R1620 |
T7707 |
T7705 |
acl |
assayed,members |
| R1621 |
T7708 |
T7705 |
punct |
", ",members |
| R1622 |
T7579 |
T7580 |
det |
the,three |
| R1623 |
T7709 |
T7705 |
prep |
from,members |
| R1624 |
T7710 |
T7709 |
pobj |
SUMF1,from |
| R1625 |
T7580 |
T7578 |
dobj |
three,removing |
| R1626 |
T7711 |
T7709 |
prep |
through,from |
| R1627 |
T7712 |
T7711 |
pobj |
ITPR1,through |
| R1628 |
T7581 |
T7580 |
amod |
first,three |
| R1629 |
T7713 |
T7697 |
punct |
.,showed |
| R1630 |
T7582 |
T7580 |
prep |
of,three |
| R1631 |
T7715 |
T7716 |
det |
These,mutations |
| R1632 |
T7716 |
T7717 |
nsubj |
mutations,segregated |
| R1633 |
T7583 |
T7584 |
det |
the,exons |
| R1634 |
T7718 |
T7717 |
prep |
with,segregated |
| R1635 |
T7719 |
T7718 |
pobj |
disease,with |
| R1636 |
T7720 |
T7719 |
prep |
in,disease |
| R1637 |
T7584 |
T7582 |
pobj |
exons,of |
| R1638 |
T7721 |
T7722 |
det |
these,families |
| R1639 |
T7722 |
T7720 |
pobj |
families,in |
| R1640 |
T7585 |
T7584 |
nummod |
nine,exons |
| R1641 |
T7723 |
T7722 |
nummod |
two,families |
| R1642 |
T7724 |
T7725 |
punct |
(,S3 |
| R1643 |
T7725 |
T7717 |
parataxis |
S3,segregated |
| R1644 |
T7586 |
T7584 |
prep |
of,exons |
| R1645 |
T7726 |
T7725 |
compound |
Figure,S3 |
| R1646 |
T7727 |
T7725 |
punct |
),S3 |
| R1647 |
T7728 |
T7717 |
punct |
.,segregated |
| R1648 |
T7730 |
T7731 |
det |
A,strategy |
| R1649 |
T7731 |
T7732 |
nsubj |
strategy,enabled |
| R1650 |
T7587 |
T7586 |
pobj |
SUMF1,of |
| R1651 |
T7733 |
T7731 |
amod |
similar,strategy |
| R1652 |
T7734 |
T7733 |
prep |
to,similar |
| R1653 |
T7588 |
T7580 |
cc |
and,three |
| R1654 |
T7735 |
T7736 |
det |
the,one |
| R1655 |
T7736 |
T7734 |
pobj |
one,to |
| R1656 |
T7737 |
T7736 |
acl |
outlined,one |
| R1657 |
T7589 |
T7590 |
det |
the,ten |
| R1658 |
T7738 |
T7737 |
advmod |
above,outlined |
| R1659 |
T7739 |
T7732 |
dobj |
us,enabled |
| R1660 |
T7740 |
T7741 |
aux |
to,sequence |
| R1661 |
T7590 |
T7580 |
conj |
ten,three |
| R1662 |
T7741 |
T7732 |
xcomp |
sequence,enabled |
| R1663 |
T7742 |
T7741 |
prep |
over,sequence |
| R1664 |
T7743 |
T7744 |
det |
the,breakpoint |
| R1665 |
T7591 |
T7590 |
amod |
first,ten |
| R1666 |
T7744 |
T7742 |
pobj |
breakpoint,over |
| R1667 |
T7592 |
T7590 |
prep |
of,ten |
| R1668 |
T7593 |
T7594 |
det |
the,exons |
| R1669 |
T7745 |
T7741 |
prep |
in,sequence |
| R1670 |
T7594 |
T7592 |
pobj |
exons,of |
| R1671 |
T7746 |
T7747 |
compound |
family,H27 |
| R1672 |
T7747 |
T7745 |
pobj |
H27,in |
| R1673 |
T7748 |
T7747 |
cc |
but,H27 |
| R1674 |
T7595 |
T7594 |
nummod |
58,exons |
| R1675 |
T7749 |
T7748 |
neg |
not,but |
| R1676 |
T7750 |
T7751 |
compound |
family,H33 |
| R1677 |
T7596 |
T7594 |
prep |
of,exons |
| R1678 |
T7751 |
T7747 |
conj |
H33,H27 |
| R1679 |
T7752 |
T7732 |
punct |
.,enabled |
| R1680 |
T7597 |
T7596 |
pobj |
ITPR1,of |
| R1681 |
T7754 |
T7755 |
prep |
In,spans |
| R1682 |
T7755 |
T7761 |
ccomp |
spans,estimate |
| R1683 |
T7756 |
T7757 |
det |
the,former |
| R1684 |
T7598 |
T7564 |
punct |
.,revealed |
| R1685 |
T7757 |
T7754 |
pobj |
former,In |
| R1686 |
T7758 |
T7755 |
punct |
", ",spans |
| R1687 |
T7759 |
T7760 |
det |
the,deletion |
| R1688 |
T7600 |
T7601 |
nsubj |
We,were |
| R1689 |
T7760 |
T7755 |
nsubj |
deletion,spans |
| R1690 |
T7762 |
T7763 |
nummod |
"344,408",bp |
| R1691 |
T7763 |
T7755 |
dobj |
bp,spans |
| R1692 |
T7602 |
T7601 |
acomp |
unable,were |
| R1693 |
T7764 |
T7755 |
punct |
", ",spans |
| R1694 |
T7765 |
T7755 |
advcl |
removing,spans |
| R1695 |
T7766 |
T7767 |
nmod |
exons,1 |
| R1696 |
T7767 |
T7765 |
dobj |
1,removing |
| R1697 |
T7603 |
T7604 |
aux |
to,amplify |
| R1698 |
T7768 |
T7769 |
punct |
–,3 |
| R1699 |
T7769 |
T7767 |
prep |
3,1 |
| R1700 |
T7770 |
T7767 |
prep |
of,1 |
| R1701 |
T7771 |
T7770 |
pobj |
SUMF1,of |
| R1702 |
T7772 |
T7767 |
cc |
and,1 |
| R1703 |
T7773 |
T7767 |
conj |
1,1 |
| R1704 |
T7604 |
T7602 |
xcomp |
amplify,unable |
| R1705 |
T7774 |
T7775 |
punct |
–,44 |
| R1706 |
T7775 |
T7773 |
prep |
44,1 |
| R1707 |
T7776 |
T7773 |
prep |
of,1 |
| R1708 |
T7605 |
T7606 |
det |
the,fragment |
| R1709 |
T7777 |
T7776 |
pobj |
ITPR1,of |
| R1710 |
T7778 |
T7761 |
punct |
;,estimate |
| R1711 |
T7779 |
T7761 |
prep |
in,estimate |
| R1712 |
T7606 |
T7604 |
dobj |
fragment,amplify |
| R1713 |
T7780 |
T7781 |
det |
the,latter |
| R1714 |
T7781 |
T7779 |
pobj |
latter,in |
| R1715 |
T7782 |
T7761 |
punct |
", ",estimate |
| R1716 |
T7607 |
T7608 |
npadvmod |
deletion,specific |
| R1717 |
T7783 |
T7761 |
nsubj |
we,estimate |
| R1718 |
T7784 |
T7785 |
mark |
that,is |
| R1719 |
T7785 |
T7761 |
advcl |
is,estimate |
| R1720 |
T7608 |
T7606 |
amod |
specific,fragment |
| R1721 |
T7786 |
T7787 |
det |
the,deletion |
| R1722 |
T7787 |
T7785 |
nsubj |
deletion,is |
| R1723 |
T7609 |
T7608 |
punct |
-,specific |
| R1724 |
T7788 |
T7789 |
nummod |
310,kb |
| R1725 |
T7610 |
T7606 |
prep |
in,fragment |
| R1726 |
T7789 |
T7785 |
attr |
kb,is |
| R1727 |
T7790 |
T7789 |
prep |
in,kb |
| R1728 |
T7611 |
T7612 |
det |
the,member |
| R1729 |
T7791 |
T7790 |
pobj |
length,in |
| R1730 |
T7792 |
T7785 |
cc |
and,is |
| R1731 |
T7793 |
T7794 |
mark |
that,removes |
| R1732 |
T7612 |
T7610 |
pobj |
member,in |
| R1733 |
T7794 |
T7785 |
conj |
removes,is |
| R1734 |
T7795 |
T7794 |
nsubj |
it,removes |
| R1735 |
T7796 |
T7797 |
nmod |
exons,1 |
| R1736 |
T7613 |
T7612 |
compound |
family,member |
| R1737 |
T7797 |
T7794 |
dobj |
1,removes |
| R1738 |
T7798 |
T7799 |
punct |
–,3 |
| R1739 |
T7614 |
T7612 |
prep |
of,member |
| R1740 |
T7799 |
T7797 |
prep |
3,1 |
| R1741 |
T7800 |
T7797 |
prep |
of,1 |
| R1742 |
T7801 |
T7800 |
pobj |
SUMF1,of |
| R1743 |
T7802 |
T7797 |
cc |
and,1 |
| R1744 |
T7615 |
T7616 |
amod |
unknown,status |
| R1745 |
T7803 |
T7804 |
nmod |
exons,1 |
| R1746 |
T7804 |
T7797 |
conj |
1,1 |
| R1747 |
T7616 |
T7614 |
pobj |
status,of |
| R1748 |
T7805 |
T7806 |
punct |
–,40 |
| R1749 |
T7806 |
T7804 |
prep |
40,1 |
| R1750 |
T7807 |
T7804 |
prep |
of,1 |
| R1751 |
T7808 |
T7807 |
pobj |
ITPR1,of |
| R1752 |
T7809 |
T7761 |
punct |
.,estimate |
| R1753 |
T7617 |
T7616 |
compound |
affection,status |
| R1754 |
T7811 |
T7812 |
det |
The,site |
| R1755 |
T7812 |
T7813 |
nsubj |
site,is |
| R1756 |
T7813 |
T7816 |
ccomp |
is,failed |
| R1757 |
T7618 |
T7610 |
punct |
", ",in |
| R1758 |
T7814 |
T7812 |
prep |
of,site |
| R1759 |
T7815 |
T7814 |
pobj |
mutation,of |
| R1760 |
T7619 |
T7610 |
cc |
or,in |
| R1761 |
T7817 |
T7813 |
prep |
of,is |
| R1762 |
T7818 |
T7817 |
pobj |
interest,of |
| R1763 |
T7819 |
T7813 |
punct |
", ",is |
| R1764 |
T7620 |
T7610 |
conj |
in,in |
| R1765 |
T7820 |
T7821 |
advmod |
particularly,fact |
| R1766 |
T7821 |
T7813 |
npadvmod |
fact,is |
| R1767 |
T7822 |
T7821 |
det |
the,fact |
| R1768 |
T7621 |
T7622 |
nummod |
275,controls |
| R1769 |
T7823 |
T7824 |
mark |
that,anchored |
| R1770 |
T7824 |
T7821 |
acl |
anchored,fact |
| R1771 |
T7825 |
T7824 |
prep |
in,anchored |
| R1772 |
T7622 |
T7620 |
pobj |
controls,in |
| R1773 |
T7826 |
T7825 |
pobj |
each,in |
| R1774 |
T7827 |
T7826 |
prep |
of,each |
| R1775 |
T7828 |
T7829 |
det |
the,families |
| R1776 |
T7623 |
T7624 |
advmod |
neurologically,normal |
| R1777 |
T7829 |
T7827 |
pobj |
families,of |
| R1778 |
T7830 |
T7829 |
nummod |
three,families |
| R1779 |
T7624 |
T7622 |
amod |
normal,controls |
| R1780 |
T7831 |
T7832 |
det |
the,end |
| R1781 |
T7832 |
T7824 |
nsubjpass |
end,anchored |
| R1782 |
T7833 |
T7832 |
amod |
telomeric,end |
| R1783 |
T7625 |
T7601 |
punct |
.,were |
| R1784 |
T7834 |
T7832 |
prep |
of,end |
| R1785 |
T7835 |
T7836 |
det |
the,deletion |
| R1786 |
T7836 |
T7834 |
pobj |
deletion,of |
| R1787 |
T7627 |
T7628 |
aux |
To,establish |
| R1788 |
T7837 |
T7824 |
auxpass |
is,anchored |
| R1789 |
T7838 |
T7824 |
prep |
between,anchored |
| R1790 |
T7839 |
T7840 |
nmod |
exons,3 |
| R1791 |
T7840 |
T7838 |
pobj |
3,between |
| R1792 |
T7628 |
T7630 |
advcl |
establish,analyzed |
| R1793 |
T7841 |
T7840 |
cc |
and,3 |
| R1794 |
T7842 |
T7840 |
conj |
4,3 |
| R1795 |
T7629 |
T7628 |
advmod |
further,establish |
| R1796 |
T7843 |
T7840 |
prep |
of,3 |
| R1797 |
T7844 |
T7843 |
pobj |
SUMF1,of |
| R1798 |
T7845 |
T7816 |
punct |
;,failed |
| R1799 |
T7631 |
T7632 |
amod |
genetic,deletion |
| R1800 |
T7846 |
T7847 |
compound |
sequence,searches |
| R1801 |
T7847 |
T7816 |
nsubj |
searches,failed |
| R1802 |
T7848 |
T7849 |
aux |
to,identify |
| R1803 |
T7849 |
T7816 |
xcomp |
identify,failed |
| R1804 |
T7850 |
T7851 |
det |
any,sequences |
| R1805 |
T7851 |
T7849 |
dobj |
sequences,identify |
| R1806 |
T7632 |
T7628 |
dobj |
deletion,establish |
| R1807 |
T7633 |
T7632 |
prep |
at,deletion |
| R1808 |
T7634 |
T7633 |
pobj |
ITPR1,at |
| R1809 |
T7635 |
T7628 |
prep |
as,establish |
| R1810 |
T7852 |
T7851 |
compound |
repeat,sequences |
| R1811 |
T7853 |
T7854 |
dep |
that,explain |
| R1812 |
T7636 |
T7637 |
det |
the,cause |
| R1813 |
T7854 |
T7851 |
relcl |
explain,sequences |
| R1814 |
T7855 |
T7854 |
aux |
might,explain |
| R1815 |
T7637 |
T7635 |
pobj |
cause,as |
| R1816 |
T7856 |
T7857 |
det |
this,phenomenon |
| R1817 |
T7857 |
T7854 |
dobj |
phenomenon,explain |
| R1818 |
T7858 |
T7816 |
punct |
.,failed |
| R1819 |
T7638 |
T7637 |
prep |
of,cause |
| R1820 |
T7860 |
T7861 |
prep |
With,conclude |
| R1821 |
T7959 |
T7956 |
compound |
sulfatase,deficiency |
| R1822 |
T7862 |
T7863 |
nummod |
three,families |
| R1823 |
T7863 |
T7860 |
pobj |
families,With |
| R1824 |
T7864 |
T7863 |
amod |
cerebellar,families |
| R1825 |
T7865 |
T7863 |
compound |
ataxia,families |
| R1826 |
T7866 |
T7863 |
acl |
segregating,families |
| R1827 |
T7960 |
T7956 |
punct |
", ",deficiency |
| R1828 |
T7867 |
T7868 |
det |
a,deletion |
| R1829 |
T7868 |
T7866 |
dobj |
deletion,segregating |
| R1830 |
T7869 |
T7870 |
compound |
SUMF1,ITPR1 |
| R1831 |
T7961 |
T7962 |
det |
a,disorder |
| R1832 |
T7870 |
T7868 |
compound |
ITPR1,deletion |
| R1833 |
T7962 |
T7956 |
appos |
disorder,deficiency |
| R1834 |
T7871 |
T7870 |
punct |
–,ITPR1 |
| R1835 |
T7872 |
T7863 |
punct |
", ",families |
| R1836 |
T7873 |
T7863 |
cc |
and,families |
| R1837 |
T7963 |
T7962 |
amod |
metabolic,disorder |
| R1838 |
T7964 |
T7962 |
acl |
characterized,disorder |
| R1839 |
T7874 |
T7875 |
det |
this,deletion |
| R1840 |
T7965 |
T7964 |
agent |
by,characterized |
| R1841 |
T7875 |
T7863 |
conj |
deletion,families |
| R1842 |
T7876 |
T7877 |
neg |
not,observed |
| R1843 |
T7966 |
T7965 |
pobj |
hepatosplenomegaly,by |
| R1844 |
T7877 |
T7875 |
acl |
observed,deletion |
| R1845 |
T7878 |
T7877 |
prep |
in,observed |
| R1846 |
T7967 |
T7966 |
punct |
", ",hepatosplenomegaly |
| R1847 |
T7879 |
T7880 |
det |
a,population |
| R1848 |
T7880 |
T7878 |
pobj |
population,in |
| R1849 |
T7881 |
T7880 |
compound |
control,population |
| R1850 |
T7968 |
T7966 |
conj |
deafness,hepatosplenomegaly |
| R1851 |
T7882 |
T7861 |
punct |
", ",conclude |
| R1852 |
T7883 |
T7861 |
nsubj |
we,conclude |
| R1853 |
T7884 |
T7861 |
aux |
may,conclude |
| R1854 |
T7885 |
T7861 |
advmod |
reasonably,conclude |
| R1855 |
T7886 |
T7887 |
mark |
that,is |
| R1856 |
T7887 |
T7861 |
advcl |
is,conclude |
| R1857 |
T7969 |
T7968 |
punct |
", ",deafness |
| R1858 |
T7888 |
T7889 |
det |
the,association |
| R1859 |
T7889 |
T7887 |
nsubj |
association,is |
| R1860 |
T7890 |
T7887 |
acomp |
causal,is |
| R1861 |
T7970 |
T7968 |
cc |
and,deafness |
| R1862 |
T7891 |
T7887 |
punct |
", ",is |
| R1863 |
T7892 |
T7887 |
cc |
and,is |
| R1864 |
T7893 |
T7894 |
mark |
that,is |
| R1865 |
T7971 |
T7972 |
amod |
developmental,delay |
| R1866 |
T7894 |
T7887 |
conj |
is,is |
| R1867 |
T7895 |
T7896 |
det |
the,deletion |
| R1868 |
T7896 |
T7894 |
nsubj |
deletion,is |
| R1869 |
T7972 |
T7968 |
conj |
delay,deafness |
| R1870 |
T7897 |
T7894 |
advmod |
indeed,is |
| R1871 |
T7898 |
T7899 |
det |
the,basis |
| R1872 |
T7973 |
T7974 |
punct |
[,7 |
| R1873 |
T7899 |
T7894 |
attr |
basis,is |
| R1874 |
T7900 |
T7899 |
amod |
genetic,basis |
| R1875 |
T7901 |
T7899 |
prep |
of,basis |
| R1876 |
T7974 |
T7951 |
parataxis |
7,results |
| R1877 |
T7902 |
T7903 |
det |
the,disease |
| R1878 |
T7903 |
T7901 |
pobj |
disease,of |
| R1879 |
T7904 |
T7894 |
punct |
", ",is |
| R1880 |
T7975 |
T7974 |
nummod |
6,7 |
| R1881 |
T7905 |
T7906 |
mark |
with,diagnosis |
| R1882 |
T7906 |
T7894 |
advcl |
diagnosis,is |
| R1883 |
T7976 |
T7974 |
punct |
",",7 |
| R1884 |
T7907 |
T7906 |
nsubj |
SCA15,diagnosis |
| R1885 |
T7908 |
T7906 |
det |
the,diagnosis |
| R1886 |
T7909 |
T7906 |
prep |
in,diagnosis |
| R1887 |
T7977 |
T7974 |
punct |
],7 |
| R1888 |
T7910 |
T7911 |
det |
the,families |
| R1889 |
T7911 |
T7909 |
pobj |
families,in |
| R1890 |
T7912 |
T7911 |
nummod |
two,families |
| R1891 |
T7978 |
T7951 |
punct |
.,results |
| R1892 |
T7913 |
T7911 |
amod |
British,families |
| R1893 |
T7914 |
T7915 |
advmod |
as,as |
| R1894 |
T7915 |
T7911 |
cc |
as,families |
| R1895 |
T7980 |
T7981 |
det |
No,co-occurrence |
| R1896 |
T7916 |
T7915 |
advmod |
well,as |
| R1897 |
T7917 |
T7918 |
det |
the,family |
| R1898 |
T7918 |
T7911 |
conj |
family,families |
| R1899 |
T7919 |
T7918 |
amod |
original,family |
| R1900 |
T7981 |
T7982 |
nsubjpass |
co-occurrence,described |
| R1901 |
T7920 |
T7918 |
amod |
Australian,family |
| R1902 |
T7921 |
T7861 |
punct |
.,conclude |
| R1903 |
T7983 |
T7981 |
prep |
of,co-occurrence |
| R1904 |
T7923 |
T7924 |
nsubj |
It,is |
| R1905 |
T7925 |
T7924 |
acomp |
improbable,is |
| R1906 |
T7926 |
T7927 |
mark |
that,causes |
| R1907 |
T7927 |
T7924 |
ccomp |
causes,is |
| R1908 |
T7928 |
T7927 |
nsubj |
heterozygosity,causes |
| R1909 |
T7984 |
T7983 |
pobj |
ataxia,of |
| R1910 |
T7929 |
T7928 |
prep |
for,heterozygosity |
| R1911 |
T7930 |
T7931 |
det |
the,deletion |
| R1912 |
T7985 |
T7982 |
aux |
has,described |
| R1913 |
T7931 |
T7929 |
pobj |
deletion,for |
| R1914 |
T7932 |
T7931 |
prep |
of,deletion |
| R1915 |
T7933 |
T7932 |
pobj |
SUMF1,of |
| R1916 |
T7934 |
T7928 |
punct |
", ",heterozygosity |
| R1917 |
T7986 |
T7982 |
auxpass |
been,described |
| R1918 |
T7935 |
T7928 |
acl |
encoding,heterozygosity |
| R1919 |
T7936 |
T7937 |
nmod |
sulfatase,factor |
| R1920 |
T7987 |
T7982 |
prep |
in,described |
| R1921 |
T7937 |
T7935 |
dobj |
factor,encoding |
| R1922 |
T7938 |
T7937 |
amod |
modifying,factor |
| R1923 |
T7939 |
T7937 |
nummod |
1,factor |
| R1924 |
T7988 |
T7989 |
punct |
(,parents |
| R1925 |
T7940 |
T7928 |
punct |
", ",heterozygosity |
| R1926 |
T7941 |
T7928 |
prep |
of,heterozygosity |
| R1927 |
T7942 |
T7941 |
pobj |
itself,of |
| R1928 |
T7989 |
T7987 |
pobj |
parents,in |
| R1929 |
T7943 |
T7927 |
cc |
or,causes |
| R1930 |
T7944 |
T7927 |
conj |
contributes,causes |
| R1931 |
T7990 |
T7989 |
amod |
heterozygous,parents |
| R1932 |
T7945 |
T7944 |
prep |
to,contributes |
| R1933 |
T7946 |
T7944 |
dobj |
SCA15,contributes |
| R1934 |
T7947 |
T7924 |
punct |
.,is |
| R1935 |
T7991 |
T7989 |
punct |
),parents |
| R1936 |
T7949 |
T7950 |
amod |
Homozygous,mutation |
| R1937 |
T7950 |
T7951 |
nsubj |
mutation,results |
| R1938 |
T7992 |
T7989 |
prep |
of,parents |
| R1939 |
T7952 |
T7950 |
prep |
of,mutation |
| R1940 |
T7993 |
T7992 |
pobj |
patients,of |
| R1941 |
T7953 |
T7952 |
pobj |
SUMF1,of |
| R1942 |
T7954 |
T7951 |
prep |
in,results |
| R1943 |
T7955 |
T7956 |
amod |
autosomal,deficiency |
| R1944 |
T7994 |
T7993 |
prep |
with,patients |
| R1945 |
T7995 |
T7996 |
amod |
multiple,deficiency |
| R1946 |
T7956 |
T7954 |
pobj |
deficiency,in |
| R1947 |
T7957 |
T7956 |
amod |
recessive,deficiency |
| R1948 |
T7996 |
T7994 |
pobj |
deficiency,with |
| R1949 |
T7958 |
T7956 |
amod |
multiple,deficiency |
| R1950 |
T7997 |
T7996 |
compound |
sulfatase,deficiency |
| R1951 |
T7998 |
T7982 |
punct |
.,described |
| R1952 |
T8000 |
T8001 |
advmod |
Conversely,present |
| R1953 |
T8066 |
T8067 |
prep |
In,revealed |
| R1954 |
T8002 |
T8001 |
punct |
", ",present |
| R1955 |
T8068 |
T8069 |
amod |
further,support |
| R1956 |
T8069 |
T8066 |
pobj |
support,In |
| R1957 |
T8003 |
T8004 |
nsubj |
mutation,is |
| R1958 |
T8070 |
T8069 |
prep |
of,support |
| R1959 |
T8071 |
T8072 |
det |
this,conclusion |
| R1960 |
T8072 |
T8070 |
pobj |
conclusion,of |
| R1961 |
T8073 |
T8067 |
punct |
", ",revealed |
| R1962 |
T8074 |
T8067 |
nsubj |
analysis,revealed |
| R1963 |
T8004 |
T8001 |
ccomp |
is,present |
| R1964 |
T8075 |
T8074 |
prep |
of,analysis |
| R1965 |
T8076 |
T8077 |
compound |
protein,levels |
| R1966 |
T8077 |
T8075 |
pobj |
levels,of |
| R1967 |
T8005 |
T8003 |
prep |
of,mutation |
| R1968 |
T8078 |
T8077 |
prep |
of,levels |
| R1969 |
T8079 |
T8078 |
pobj |
ITPR1,of |
| R1970 |
T8080 |
T8079 |
prep |
in,ITPR1 |
| R1971 |
T8006 |
T8005 |
pobj |
ITPR1,of |
| R1972 |
T8081 |
T8082 |
nmod |
Epstein,Barr |
| R1973 |
T8082 |
T8084 |
nmod |
Barr,virus |
| R1974 |
T8007 |
T8008 |
advmod |
biologically,plausible |
| R1975 |
T8083 |
T8082 |
punct |
-,Barr |
| R1976 |
T8084 |
T8085 |
nmod |
virus,lymphocytes |
| R1977 |
T8085 |
T8080 |
pobj |
lymphocytes,in |
| R1978 |
T8008 |
T8004 |
acomp |
plausible,is |
| R1979 |
T8086 |
T8084 |
punct |
(,virus |
| R1980 |
T8087 |
T8084 |
appos |
EBV,virus |
| R1981 |
T8088 |
T8085 |
punct |
),lymphocytes |
| R1982 |
T8009 |
T8004 |
prep |
as,is |
| R1983 |
T8089 |
T8085 |
amod |
immortalized,lymphocytes |
| R1984 |
T8090 |
T8085 |
prep |
from,lymphocytes |
| R1985 |
T8091 |
T8092 |
amod |
affected,members |
| R1986 |
T8010 |
T8011 |
det |
a,cause |
| R1987 |
T8092 |
T8090 |
pobj |
members,from |
| R1988 |
T8011 |
T8009 |
pobj |
cause,as |
| R1989 |
T8012 |
T8011 |
prep |
of,cause |
| R1990 |
T8093 |
T8091 |
cc |
and,affected |
| R1991 |
T8013 |
T8012 |
pobj |
ataxia,of |
| R1992 |
T8094 |
T8091 |
conj |
unaffected,affected |
| R1993 |
T8095 |
T8092 |
compound |
AUS1,members |
| R1994 |
T8096 |
T8092 |
compound |
family,members |
| R1995 |
T8014 |
T8001 |
punct |
: ,present |
| R1996 |
T8097 |
T8098 |
mark |
that,showed |
| R1997 |
T8098 |
T8067 |
ccomp |
showed,revealed |
| R1998 |
T8099 |
T8100 |
det |
all,members |
| R1999 |
T8015 |
T8016 |
det |
the,protein |
| R2000 |
T8100 |
T8098 |
nsubj |
members,showed |
| R2001 |
T8101 |
T8100 |
amod |
affected,members |
| R2002 |
T8102 |
T8103 |
det |
a,decrease |
| R2003 |
T8016 |
T8017 |
nsubjpass |
protein,expressed |
| R2004 |
T8103 |
T8098 |
dobj |
decrease,showed |
| R2005 |
T8104 |
T8103 |
amod |
dramatic,decrease |
| R2006 |
T8105 |
T8103 |
prep |
in,decrease |
| R2007 |
T8017 |
T8001 |
ccomp |
expressed,present |
| R2008 |
T8106 |
T8107 |
compound |
ITPR1,levels |
| R2009 |
T8107 |
T8105 |
pobj |
levels,in |
| R2010 |
T8108 |
T8109 |
advmod |
when,compared |
| R2011 |
T8109 |
T8098 |
advcl |
compared,showed |
| R2012 |
T8110 |
T8109 |
prep |
with,compared |
| R2013 |
T8018 |
T8017 |
auxpass |
is,expressed |
| R2014 |
T8111 |
T8112 |
det |
the,member |
| R2015 |
T8112 |
T8110 |
pobj |
member,with |
| R2016 |
T8113 |
T8112 |
compound |
family,member |
| R2017 |
T8114 |
T8112 |
prep |
without,member |
| R2018 |
T8019 |
T8017 |
advmod |
highly,expressed |
| R2019 |
T8115 |
T8116 |
det |
the,deletion |
| R2020 |
T8116 |
T8114 |
pobj |
deletion,without |
| R2021 |
T8020 |
T8017 |
prep |
in,expressed |
| R2022 |
T8117 |
T8118 |
punct |
(,Figure |
| R2023 |
T8118 |
T8067 |
parataxis |
Figure,revealed |
| R2024 |
T8119 |
T8118 |
nummod |
4,Figure |
| R2025 |
T8021 |
T8022 |
compound |
Purkinje,cells |
| R2026 |
T8120 |
T8118 |
punct |
),Figure |
| R2027 |
T8121 |
T8067 |
punct |
.,revealed |
| R2028 |
T8022 |
T8020 |
pobj |
cells,in |
| R2029 |
T8123 |
T8124 |
nsubj |
Itpr1,contains |
| R2030 |
T8124 |
T8125 |
ccomp |
contains,contains |
| R2031 |
T8023 |
T8001 |
punct |
;,present |
| R2032 |
T8126 |
T8127 |
nummod |
three,domains |
| R2033 |
T8127 |
T8124 |
dobj |
domains,contains |
| R2034 |
T8024 |
T8025 |
mark |
as,shown |
| R2035 |
T8128 |
T8127 |
punct |
", ",domains |
| R2036 |
T8025 |
T8001 |
advcl |
shown,present |
| R2037 |
T8129 |
T8130 |
det |
an,domain |
| R2038 |
T8026 |
T8025 |
nsubj |
we,shown |
| R2039 |
T8130 |
T8127 |
appos |
domain,domains |
| R2040 |
T8131 |
T8132 |
npadvmod |
N,terminal |
| R2041 |
T8132 |
T8130 |
amod |
terminal,domain |
| R2042 |
T8027 |
T8025 |
aux |
have,shown |
| R2043 |
T8133 |
T8132 |
punct |
-,terminal |
| R2044 |
T8134 |
T8130 |
compound |
inositol,domain |
| R2045 |
T8135 |
T8130 |
compound |
triphosphate,domain |
| R2046 |
T8028 |
T8025 |
advmod |
here,shown |
| R2047 |
T8136 |
T8130 |
compound |
binding,domain |
| R2048 |
T8137 |
T8130 |
punct |
", ",domain |
| R2049 |
T8029 |
T8001 |
punct |
", ",present |
| R2050 |
T8138 |
T8139 |
det |
a,domain |
| R2051 |
T8139 |
T8130 |
conj |
domain,domain |
| R2052 |
T8140 |
T8139 |
amod |
coupling,domain |
| R2053 |
T8030 |
T8001 |
nsubj |
mice,present |
| R2054 |
T8141 |
T8139 |
punct |
", ",domain |
| R2055 |
T8142 |
T8139 |
cc |
and,domain |
| R2056 |
T8031 |
T8030 |
prep |
with,mice |
| R2057 |
T8143 |
T8144 |
det |
a,domain |
| R2058 |
T8144 |
T8139 |
conj |
domain,domain |
| R2059 |
T8145 |
T8146 |
npadvmod |
C,terminal |
| R2060 |
T8032 |
T8031 |
pobj |
mutation,with |
| R2061 |
T8146 |
T8144 |
amod |
terminal,domain |
| R2062 |
T8147 |
T8146 |
punct |
-,terminal |
| R2063 |
T8148 |
T8144 |
compound |
transmembrane,domain |
| R2064 |
T8149 |
T8125 |
punct |
;,contains |
| R2065 |
T8150 |
T8125 |
nsubj |
it,contains |
| R2066 |
T8033 |
T8032 |
prep |
at,mutation |
| R2067 |
T8151 |
T8125 |
advmod |
also,contains |
| R2068 |
T8152 |
T8153 |
nummod |
two,sites |
| R2069 |
T8153 |
T8125 |
dobj |
sites,contains |
| R2070 |
T8034 |
T8035 |
det |
this,locus |
| R2071 |
T8154 |
T8155 |
compound |
protein,A |
| R2072 |
T8155 |
T8153 |
compound |
A,sites |
| R2073 |
T8156 |
T8155 |
compound |
kinase,A |
| R2074 |
T8035 |
T8033 |
pobj |
locus,at |
| R2075 |
T8157 |
T8153 |
compound |
phosphorylation,sites |
| R2076 |
T8158 |
T8153 |
cc |
and,sites |
| R2077 |
T8159 |
T8160 |
det |
an,site |
| R2078 |
T8036 |
T8001 |
prep |
with,present |
| R2079 |
T8160 |
T8153 |
conj |
site,sites |
| R2080 |
T8161 |
T8162 |
npadvmod |
ATP,binding |
| R2081 |
T8162 |
T8160 |
amod |
binding,site |
| R2082 |
T8037 |
T8036 |
pobj |
ataxia,with |
| R2083 |
T8163 |
T8162 |
punct |
-,binding |
| R2084 |
T8164 |
T8125 |
punct |
.,contains |
| R2085 |
T8038 |
T8001 |
punct |
;,present |
| R2086 |
T8166 |
T8167 |
nsubjpass |
Itpr1,coupled |
| R2087 |
T8039 |
T8001 |
cc |
and,present |
| R2088 |
T8168 |
T8167 |
auxpass |
is,coupled |
| R2089 |
T8169 |
T8167 |
prep |
to,coupled |
| R2090 |
T8040 |
T8041 |
amod |
perturbed,signaling |
| R2091 |
T8170 |
T8171 |
compound |
Ca2+,channels |
| R2092 |
T8041 |
T8043 |
nsubjpass |
signaling,implicated |
| R2093 |
T8042 |
T8041 |
compound |
Ca2+,signaling |
| R2094 |
T8171 |
T8169 |
pobj |
channels,to |
| R2095 |
T8172 |
T8167 |
cc |
and,coupled |
| R2096 |
T8043 |
T8001 |
conj |
implicated,present |
| R2097 |
T8173 |
T8167 |
conj |
facilitates,coupled |
| R2098 |
T8174 |
T8175 |
compound |
Ca2+,release |
| R2099 |
T8175 |
T8173 |
dobj |
release,facilitates |
| R2100 |
T8176 |
T8175 |
prep |
from,release |
| R2101 |
T8044 |
T8043 |
aux |
has,implicated |
| R2102 |
T8177 |
T8178 |
det |
the,reticulum |
| R2103 |
T8178 |
T8176 |
pobj |
reticulum,from |
| R2104 |
T8045 |
T8043 |
advmod |
previously,implicated |
| R2105 |
T8179 |
T8178 |
amod |
endoplasmic,reticulum |
| R2106 |
T8180 |
T8175 |
prep |
after,release |
| R2107 |
T8181 |
T8180 |
pobj |
binding,after |
| R2108 |
T8046 |
T8043 |
auxpass |
been,implicated |
| R2109 |
T8182 |
T8181 |
prep |
by,binding |
| R2110 |
T8183 |
T8184 |
det |
the,messenger |
| R2111 |
T8184 |
T8182 |
pobj |
messenger,by |
| R2112 |
T8047 |
T8043 |
prep |
in,implicated |
| R2113 |
T8185 |
T8184 |
amod |
intracellular,messenger |
| R2114 |
T8186 |
T8184 |
amod |
second,messenger |
| R2115 |
T8187 |
T8188 |
nmod |
inositol,triphosphate |
| R2116 |
T8188 |
T8184 |
appos |
triphosphate,messenger |
| R2117 |
T8189 |
T8190 |
nummod |
1,5 |
| R2118 |
T8190 |
T8188 |
nummod |
5,triphosphate |
| R2119 |
T8048 |
T8049 |
det |
the,etiology |
| R2120 |
T8191 |
T8190 |
punct |
",",5 |
| R2121 |
T8192 |
T8190 |
nummod |
4,5 |
| R2122 |
T8193 |
T8190 |
punct |
",",5 |
| R2123 |
T8049 |
T8047 |
pobj |
etiology,in |
| R2124 |
T8194 |
T8188 |
punct |
-,triphosphate |
| R2125 |
T8195 |
T8196 |
punct |
[,9 |
| R2126 |
T8196 |
T8173 |
parataxis |
9,facilitates |
| R2127 |
T8050 |
T8049 |
prep |
of,etiology |
| R2128 |
T8197 |
T8196 |
punct |
],9 |
| R2129 |
T8198 |
T8167 |
punct |
.,coupled |
| R2130 |
T8051 |
T8050 |
pobj |
ataxia,of |
| R2131 |
T8200 |
T8201 |
nsubjpass |
Itpr1,enriched |
| R2132 |
T8052 |
T8043 |
punct |
", ",implicated |
| R2133 |
T8202 |
T8201 |
auxpass |
is,enriched |
| R2134 |
T8203 |
T8201 |
prep |
in,enriched |
| R2135 |
T8204 |
T8205 |
det |
the,cells |
| R2136 |
T8053 |
T8054 |
advmod |
notably,in |
| R2137 |
T8205 |
T8203 |
pobj |
cells,in |
| R2138 |
T8206 |
T8205 |
compound |
Purkinje,cells |
| R2139 |
T8207 |
T8205 |
prep |
of,cells |
| R2140 |
T8054 |
T8043 |
prep |
in,implicated |
| R2141 |
T8208 |
T8209 |
det |
the,cerebellum |
| R2142 |
T8209 |
T8207 |
pobj |
cerebellum,of |
| R2143 |
T8210 |
T8211 |
punct |
[,4 |
| R2144 |
T8055 |
T8056 |
amod |
episodic,type |
| R2145 |
T8211 |
T8201 |
parataxis |
4,enriched |
| R2146 |
T8212 |
T8211 |
punct |
],4 |
| R2147 |
T8213 |
T8201 |
punct |
.,enriched |
| R2148 |
T8056 |
T8054 |
pobj |
type,in |
| R2149 |
T8057 |
T8056 |
compound |
ataxia,type |
| R2150 |
T8215 |
T8216 |
compound |
ITPR1,mutations |
| R2151 |
T8058 |
T8056 |
nummod |
2,type |
| R2152 |
T8216 |
T8217 |
nsubj |
mutations,have |
| R2153 |
T8059 |
T8056 |
cc |
and,type |
| R2154 |
T8218 |
T8219 |
amod |
more,one |
| R2155 |
T8219 |
T8221 |
nummod |
one,mechanism |
| R2156 |
T8220 |
T8219 |
quantmod |
than,one |
| R2157 |
T8221 |
T8217 |
dobj |
mechanism,have |
| R2158 |
T8060 |
T8056 |
conj |
SCA6,type |
| R2159 |
T8222 |
T8221 |
amod |
potential,mechanism |
| R2160 |
T8223 |
T8221 |
amod |
pathogenic,mechanism |
| R2161 |
T8224 |
T8217 |
punct |
.,have |
| R2162 |
T8061 |
T8062 |
punct |
[,8 |
| R2163 |
T8226 |
T8227 |
advmod |
First,is |
| R2164 |
T8062 |
T8043 |
parataxis |
8,implicated |
| R2165 |
T8228 |
T8227 |
punct |
", ",is |
| R2166 |
T8229 |
T8230 |
det |
the,disease |
| R2167 |
T8230 |
T8231 |
nsubj |
disease,be |
| R2168 |
T8231 |
T8227 |
ccomp |
be,is |
| R2169 |
T8063 |
T8062 |
punct |
],8 |
| R2170 |
T8232 |
T8231 |
aux |
may,be |
| R2171 |
T8233 |
T8234 |
det |
a,result |
| R2172 |
T8234 |
T8231 |
attr |
result,be |
| R2173 |
T8235 |
T8234 |
prep |
of,result |
| R2174 |
T8064 |
T8001 |
punct |
.,present |
| R2175 |
T8236 |
T8235 |
pobj |
haploinsufficiency,of |
| R2176 |
T8237 |
T8236 |
prep |
at,haploinsufficiency |
| R2177 |
T8277 |
T8278 |
advmod |
much,shorter |
| R2178 |
T8238 |
T8237 |
pobj |
ITPR1,at |
| R2179 |
T8239 |
T8227 |
punct |
;,is |
| R2180 |
T8240 |
T8241 |
det |
this,concept |
| R2181 |
T8241 |
T8227 |
nsubj |
concept,is |
| R2182 |
T8278 |
T8276 |
amod |
shorter,span |
| R2183 |
T8242 |
T8227 |
acomp |
consistent,is |
| R2184 |
T8243 |
T8242 |
prep |
with,consistent |
| R2185 |
T8244 |
T8245 |
det |
the,observation |
| R2186 |
T8279 |
T8276 |
compound |
life,span |
| R2187 |
T8245 |
T8243 |
pobj |
observation,with |
| R2188 |
T8246 |
T8247 |
mark |
that,leads |
| R2189 |
T8247 |
T8245 |
acl |
leads,observation |
| R2190 |
T8280 |
T8276 |
prep |
of,span |
| R2191 |
T8248 |
T8249 |
amod |
heterozygous,deletion |
| R2192 |
T8249 |
T8247 |
nsubj |
deletion,leads |
| R2193 |
T8250 |
T8247 |
prep |
to,leads |
| R2194 |
T8281 |
T8282 |
det |
the,mouse |
| R2195 |
T8251 |
T8252 |
det |
a,disorder |
| R2196 |
T8252 |
T8250 |
pobj |
disorder,to |
| R2197 |
T8282 |
T8280 |
pobj |
mouse,of |
| R2198 |
T8253 |
T8254 |
amod |
later,onset |
| R2199 |
T8254 |
T8252 |
compound |
onset,disorder |
| R2200 |
T8255 |
T8247 |
prep |
in,leads |
| R2201 |
T8283 |
T8227 |
punct |
.,is |
| R2202 |
T8256 |
T8255 |
pobj |
humans,in |
| R2203 |
T8257 |
T8247 |
punct |
", ",leads |
| R2204 |
T8285 |
T8286 |
advmod |
Second,failed |
| R2205 |
T8258 |
T8259 |
mark |
whereas,leads |
| R2206 |
T8259 |
T8247 |
advcl |
leads,leads |
| R2207 |
T8260 |
T8261 |
amod |
homozygous,deletion |
| R2208 |
T8261 |
T8259 |
nsubj |
deletion,leads |
| R2209 |
T8262 |
T8261 |
prep |
in,deletion |
| R2210 |
T8263 |
T8262 |
pobj |
mice,in |
| R2211 |
T8287 |
T8286 |
punct |
", ",failed |
| R2212 |
T8264 |
T8259 |
prep |
to,leads |
| R2213 |
T8265 |
T8266 |
det |
an,disorder |
| R2214 |
T8266 |
T8264 |
pobj |
disorder,to |
| R2215 |
T8288 |
T8289 |
nsubj |
we,rule |
| R2216 |
T8267 |
T8268 |
amod |
early,onset |
| R2217 |
T8268 |
T8266 |
compound |
onset,disorder |
| R2218 |
T8269 |
T8266 |
punct |
", ",disorder |
| R2219 |
T8270 |
T8266 |
amod |
able,disorder |
| R2220 |
T8271 |
T8272 |
aux |
to,expressed |
| R2221 |
T8272 |
T8270 |
xcomp |
expressed,able |
| R2222 |
T8289 |
T8286 |
ccomp |
rule,failed |
| R2223 |
T8273 |
T8272 |
auxpass |
be,expressed |
| R2224 |
T8274 |
T8272 |
prep |
within,expressed |
| R2225 |
T8275 |
T8276 |
det |
the,span |
| R2226 |
T8290 |
T8289 |
aux |
can,rule |
| R2227 |
T8276 |
T8274 |
pobj |
span,within |
| R2228 |
T8291 |
T8289 |
neg |
not,rule |
| R2229 |
T8292 |
T8289 |
prt |
out,rule |
| R2230 |
T8383 |
T8382 |
advmod |
here,show |
| R2231 |
T8293 |
T8294 |
det |
the,existence |
| R2232 |
T8384 |
T8385 |
det |
the,utility |
| R2233 |
T8385 |
T8382 |
dobj |
utility,show |
| R2234 |
T8294 |
T8289 |
dobj |
existence,rule |
| R2235 |
T8295 |
T8294 |
prep |
of,existence |
| R2236 |
T8386 |
T8385 |
prep |
of,utility |
| R2237 |
T8296 |
T8297 |
det |
an,site |
| R2238 |
T8387 |
T8386 |
pcomp |
investigating,of |
| R2239 |
T8388 |
T8389 |
amod |
spontaneous,mutations |
| R2240 |
T8389 |
T8387 |
dobj |
mutations,investigating |
| R2241 |
T8297 |
T8295 |
pobj |
site,of |
| R2242 |
T8390 |
T8389 |
compound |
mouse,mutations |
| R2243 |
T8391 |
T8387 |
prep |
in,investigating |
| R2244 |
T8392 |
T8391 |
pcomp |
understanding,in |
| R2245 |
T8298 |
T8297 |
amod |
alternate,site |
| R2246 |
T8393 |
T8394 |
amod |
human,disease |
| R2247 |
T8394 |
T8392 |
dobj |
disease,understanding |
| R2248 |
T8299 |
T8297 |
compound |
start,site |
| R2249 |
T8395 |
T8382 |
punct |
.,show |
| R2250 |
T8300 |
T8297 |
prep |
for,site |
| R2251 |
T8397 |
T8398 |
advmod |
Currently,precludes |
| R2252 |
T8398 |
T8409 |
ccomp |
precludes,are |
| R2253 |
T8399 |
T8398 |
punct |
", ",precludes |
| R2254 |
T8301 |
T8300 |
pobj |
ITPR1,for |
| R2255 |
T8400 |
T8401 |
det |
the,number |
| R2256 |
T8401 |
T8398 |
nsubj |
number,precludes |
| R2257 |
T8302 |
T8303 |
dep |
that,result |
| R2258 |
T8402 |
T8401 |
amod |
small,number |
| R2259 |
T8403 |
T8401 |
prep |
of,number |
| R2260 |
T8404 |
T8405 |
amod |
aged,animals |
| R2261 |
T8303 |
T8297 |
relcl |
result,site |
| R2262 |
T8405 |
T8403 |
pobj |
animals,of |
| R2263 |
T8406 |
T8407 |
compound |
Itpr1wt,Δ18 |
| R2264 |
T8407 |
T8405 |
compound |
Δ18,animals |
| R2265 |
T8304 |
T8303 |
aux |
may,result |
| R2266 |
T8408 |
T8407 |
punct |
/,Δ18 |
| R2267 |
T8410 |
T8398 |
dobj |
us,precludes |
| R2268 |
T8305 |
T8303 |
prep |
in,result |
| R2269 |
T8411 |
T8398 |
prep |
from,precludes |
| R2270 |
T8412 |
T8411 |
pcomp |
examining,from |
| R2271 |
T8413 |
T8414 |
det |
these,mice |
| R2272 |
T8414 |
T8412 |
dobj |
mice,examining |
| R2273 |
T8415 |
T8412 |
prep |
for,examining |
| R2274 |
T8306 |
T8307 |
det |
a,product |
| R2275 |
T8416 |
T8417 |
amod |
subtle,signs |
| R2276 |
T8417 |
T8415 |
pobj |
signs,for |
| R2277 |
T8418 |
T8417 |
cc |
and,signs |
| R2278 |
T8307 |
T8305 |
pobj |
product,in |
| R2279 |
T8419 |
T8417 |
conj |
symptoms,signs |
| R2280 |
T8420 |
T8417 |
amod |
similar,signs |
| R2281 |
T8421 |
T8420 |
prep |
to,similar |
| R2282 |
T8308 |
T8309 |
dep |
that,confers |
| R2283 |
T8422 |
T8421 |
pobj |
those,to |
| R2284 |
T8423 |
T8422 |
acl |
seen,those |
| R2285 |
T8309 |
T8307 |
relcl |
confers,product |
| R2286 |
T8424 |
T8423 |
prep |
in,seen |
| R2287 |
T8425 |
T8426 |
compound |
SCA15,patients |
| R2288 |
T8426 |
T8424 |
pobj |
patients,in |
| R2289 |
T8310 |
T8311 |
det |
a,gain |
| R2290 |
T8427 |
T8409 |
punct |
;,are |
| R2291 |
T8428 |
T8409 |
advmod |
however,are |
| R2292 |
T8429 |
T8409 |
punct |
", ",are |
| R2293 |
T8311 |
T8309 |
dobj |
gain,confers |
| R2294 |
T8430 |
T8431 |
det |
these,mice |
| R2295 |
T8431 |
T8409 |
nsubj |
mice,are |
| R2296 |
T8432 |
T8409 |
advmod |
clearly,are |
| R2297 |
T8433 |
T8409 |
prep |
of,are |
| R2298 |
T8312 |
T8311 |
amod |
pathogenic,gain |
| R2299 |
T8434 |
T8433 |
pobj |
interest,of |
| R2300 |
T8435 |
T8434 |
prep |
to,interest |
| R2301 |
T8313 |
T8311 |
prep |
of,gain |
| R2302 |
T8436 |
T8435 |
pobj |
us,to |
| R2303 |
T8437 |
T8409 |
prep |
as,are |
| R2304 |
T8438 |
T8439 |
det |
a,model |
| R2305 |
T8314 |
T8313 |
pobj |
function,of |
| R2306 |
T8439 |
T8437 |
pobj |
model,as |
| R2307 |
T8440 |
T8439 |
amod |
potential,model |
| R2308 |
T8441 |
T8439 |
prep |
of,model |
| R2309 |
T8315 |
T8309 |
prep |
to,confers |
| R2310 |
T8442 |
T8441 |
pobj |
SCA15,of |
| R2311 |
T8443 |
T8409 |
punct |
.,are |
| R2312 |
T8316 |
T8317 |
det |
the,protein |
| R2313 |
T8445 |
T8446 |
det |
These,data |
| R2314 |
T8446 |
T8447 |
nsubj |
data,demonstrate |
| R2315 |
T8317 |
T8315 |
pobj |
protein,to |
| R2316 |
T8448 |
T8447 |
advmod |
also,demonstrate |
| R2317 |
T8318 |
T8286 |
punct |
;,failed |
| R2318 |
T8449 |
T8450 |
mark |
that,facilitate |
| R2319 |
T8450 |
T8447 |
ccomp |
facilitate,demonstrate |
| R2320 |
T8451 |
T8452 |
npadvmod |
genome,wide |
| R2321 |
T8452 |
T8454 |
amod |
wide,assay |
| R2322 |
T8453 |
T8452 |
punct |
-,wide |
| R2323 |
T8454 |
T8450 |
nsubj |
assay,facilitate |
| R2324 |
T8319 |
T8286 |
advmod |
however,failed |
| R2325 |
T8455 |
T8454 |
compound |
SNP,assay |
| R2326 |
T8456 |
T8450 |
aux |
can,facilitate |
| R2327 |
T8457 |
T8458 |
amod |
rapid,detection |
| R2328 |
T8458 |
T8450 |
dobj |
detection,facilitate |
| R2329 |
T8320 |
T8286 |
punct |
", ",failed |
| R2330 |
T8459 |
T8458 |
prep |
of,detection |
| R2331 |
T8460 |
T8461 |
amod |
structural,mutations |
| R2332 |
T8461 |
T8459 |
pobj |
mutations,of |
| R2333 |
T8321 |
T8322 |
compound |
Western,blot |
| R2334 |
T8462 |
T8461 |
amod |
genomic,mutations |
| R2335 |
T8463 |
T8464 |
dep |
that,underlie |
| R2336 |
T8322 |
T8323 |
compound |
blot,analysis |
| R2337 |
T8464 |
T8461 |
relcl |
underlie,mutations |
| R2338 |
T8465 |
T8464 |
aux |
may,underlie |
| R2339 |
T8466 |
T8464 |
dobj |
disease,underlie |
| R2340 |
T8323 |
T8286 |
nsubj |
analysis,failed |
| R2341 |
T8467 |
T8447 |
punct |
.,demonstrate |
| R2342 |
T8324 |
T8323 |
prep |
of,analysis |
| R2343 |
T8469 |
T8470 |
det |
The,data |
| R2344 |
T8470 |
T8471 |
nsubj |
data,provide |
| R2345 |
T8325 |
T8324 |
pobj |
cells,of |
| R2346 |
T8472 |
T8470 |
acl |
provided,data |
| R2347 |
T8326 |
T8325 |
acl |
derived,cells |
| R2348 |
T8327 |
T8326 |
prep |
from,derived |
| R2349 |
T8473 |
T8472 |
agent |
by,provided |
| R2350 |
T8474 |
T8475 |
det |
these,approaches |
| R2351 |
T8328 |
T8329 |
amod |
affected,members |
| R2352 |
T8475 |
T8473 |
pobj |
approaches,by |
| R2353 |
T8476 |
T8477 |
amod |
compelling,evidence |
| R2354 |
T8329 |
T8327 |
pobj |
members,from |
| R2355 |
T8477 |
T8471 |
dobj |
evidence,provide |
| R2356 |
T8478 |
T8479 |
mark |
that,causes |
| R2357 |
T8479 |
T8477 |
acl |
causes,evidence |
| R2358 |
T8330 |
T8331 |
compound |
AUS1,family |
| R2359 |
T8480 |
T8481 |
amod |
heterozygous,deletion |
| R2360 |
T8331 |
T8329 |
compound |
family,members |
| R2361 |
T8332 |
T8323 |
punct |
", ",analysis |
| R2362 |
T8481 |
T8479 |
nsubj |
deletion,causes |
| R2363 |
T8333 |
T8334 |
dep |
which,performed |
| R2364 |
T8482 |
T8481 |
prep |
of,deletion |
| R2365 |
T8483 |
T8482 |
pobj |
ITPR1,of |
| R2366 |
T8484 |
T8479 |
dobj |
SCA15,causes |
| R2367 |
T8334 |
T8323 |
relcl |
performed,analysis |
| R2368 |
T8485 |
T8471 |
punct |
.,provide |
| R2369 |
T8335 |
T8334 |
auxpass |
was,performed |
| R2370 |
T8487 |
T8488 |
advmod |
Clearly,provide |
| R2371 |
T8488 |
T8499 |
ccomp |
provide,means |
| R2372 |
T8336 |
T8334 |
advcl |
using,performed |
| R2373 |
T8337 |
T8338 |
det |
an,antibody |
| R2374 |
T8338 |
T8336 |
dobj |
antibody,using |
| R2375 |
T8489 |
T8488 |
punct |
", ",provide |
| R2376 |
T8339 |
T8338 |
acl |
raised,antibody |
| R2377 |
T8490 |
T8491 |
compound |
sequence,analysis |
| R2378 |
T8491 |
T8488 |
nsubj |
analysis,provide |
| R2379 |
T8340 |
T8339 |
prep |
against,raised |
| R2380 |
T8492 |
T8491 |
prep |
of,analysis |
| R2381 |
T8493 |
T8492 |
pobj |
ITPR1,of |
| R2382 |
T8494 |
T8493 |
prep |
in,ITPR1 |
| R2383 |
T8341 |
T8342 |
det |
the,portion |
| R2384 |
T8495 |
T8496 |
amod |
potential,cases |
| R2385 |
T8496 |
T8494 |
pobj |
cases,in |
| R2386 |
T8342 |
T8340 |
pobj |
portion,against |
| R2387 |
T8497 |
T8496 |
compound |
SCA15,cases |
| R2388 |
T8498 |
T8488 |
aux |
may,provide |
| R2389 |
T8343 |
T8344 |
npadvmod |
C,terminal |
| R2390 |
T8500 |
T8501 |
amod |
additional,insight |
| R2391 |
T8501 |
T8488 |
dobj |
insight,provide |
| R2392 |
T8344 |
T8342 |
amod |
terminal,portion |
| R2393 |
T8502 |
T8501 |
prep |
into,insight |
| R2394 |
T8503 |
T8504 |
det |
the,disease |
| R2395 |
T8504 |
T8502 |
pobj |
disease,into |
| R2396 |
T8345 |
T8344 |
punct |
-,terminal |
| R2397 |
T8505 |
T8488 |
punct |
", ",provide |
| R2398 |
T8506 |
T8507 |
advmod |
particularly,were |
| R2399 |
T8507 |
T8488 |
advcl |
were,provide |
| R2400 |
T8346 |
T8342 |
prep |
of,portion |
| R2401 |
T8508 |
T8507 |
mark |
if,were |
| R2402 |
T8509 |
T8510 |
det |
a,mutation |
| R2403 |
T8347 |
T8346 |
pobj |
ITPR1,of |
| R2404 |
T8510 |
T8507 |
nsubj |
mutation,were |
| R2405 |
T8511 |
T8510 |
compound |
stop,mutation |
| R2406 |
T8512 |
T8513 |
aux |
to,identified |
| R2407 |
T8348 |
T8286 |
punct |
", ",failed |
| R2408 |
T8513 |
T8507 |
xcomp |
identified,were |
| R2409 |
T8514 |
T8513 |
auxpass |
be,identified |
| R2410 |
T8515 |
T8499 |
punct |
;,means |
| R2411 |
T8349 |
T8350 |
aux |
to,identify |
| R2412 |
T8516 |
T8499 |
advmod |
however,means |
| R2413 |
T8517 |
T8499 |
punct |
", ",means |
| R2414 |
T8350 |
T8286 |
xcomp |
identify,failed |
| R2415 |
T8518 |
T8519 |
det |
the,mechanism |
| R2416 |
T8519 |
T8499 |
nsubj |
mechanism,means |
| R2417 |
T8520 |
T8519 |
amod |
mutational,mechanism |
| R2418 |
T8351 |
T8352 |
det |
any,products |
| R2419 |
T8521 |
T8519 |
acl |
noted,mechanism |
| R2420 |
T8522 |
T8521 |
advmod |
here,noted |
| R2421 |
T8352 |
T8350 |
dobj |
products,identify |
| R2422 |
T8523 |
T8524 |
mark |
that,required |
| R2423 |
T8524 |
T8499 |
ccomp |
required,means |
| R2424 |
T8525 |
T8526 |
amod |
standard,approaches |
| R2425 |
T8526 |
T8528 |
nsubj |
approaches,are |
| R2426 |
T8527 |
T8526 |
compound |
sequencing,approaches |
| R2427 |
T8528 |
T8524 |
ccomp |
are,required |
| R2428 |
T8353 |
T8354 |
npadvmod |
disease,specific |
| R2429 |
T8529 |
T8526 |
advmod |
alone,approaches |
| R2430 |
T8530 |
T8528 |
acomp |
insufficient,are |
| R2431 |
T8354 |
T8352 |
amod |
specific,products |
| R2432 |
T8531 |
T8532 |
aux |
to,rule |
| R2433 |
T8532 |
T8530 |
xcomp |
rule,insufficient |
| R2434 |
T8533 |
T8532 |
advmod |
confidently,rule |
| R2435 |
T8355 |
T8354 |
punct |
-,specific |
| R2436 |
T8534 |
T8532 |
prt |
out,rule |
| R2437 |
T8535 |
T8536 |
compound |
ITPR1,mutation |
| R2438 |
T8536 |
T8532 |
dobj |
mutation,rule |
| R2439 |
T8356 |
T8357 |
amod |
truncated,protein |
| R2440 |
T8537 |
T8532 |
prep |
as,rule |
| R2441 |
T8538 |
T8539 |
det |
a,cause |
| R2442 |
T8357 |
T8352 |
compound |
protein,products |
| R2443 |
T8539 |
T8537 |
pobj |
cause,as |
| R2444 |
T8540 |
T8539 |
prep |
of,cause |
| R2445 |
T8358 |
T8286 |
punct |
.,failed |
| R2446 |
T8541 |
T8540 |
pobj |
disease,of |
| R2447 |
T8542 |
T8524 |
punct |
: ,required |
| R2448 |
T8360 |
T8361 |
advmod |
Clearly,help |
| R2449 |
T8543 |
T8544 |
det |
a,approach |
| R2450 |
T8544 |
T8524 |
nsubjpass |
approach,required |
| R2451 |
T8545 |
T8544 |
amod |
comprehensive,approach |
| R2452 |
T8546 |
T8547 |
compound |
gene,dosage |
| R2453 |
T8362 |
T8361 |
punct |
", ",help |
| R2454 |
T8547 |
T8544 |
compound |
dosage,approach |
| R2455 |
T8548 |
T8524 |
auxpass |
is,required |
| R2456 |
T8549 |
T8524 |
advmod |
also,required |
| R2457 |
T8550 |
T8499 |
punct |
.,means |
| R2458 |
T8363 |
T8364 |
det |
the,identification |
| R2459 |
T8552 |
T8553 |
prep |
Given,is |
| R2460 |
T8364 |
T8361 |
nsubj |
identification,help |
| R2461 |
T8554 |
T8555 |
mark |
that,mapped |
| R2462 |
T8365 |
T8364 |
prep |
of,identification |
| R2463 |
T8366 |
T8367 |
amod |
distinct,mutations |
| R2464 |
T8555 |
T8552 |
pcomp |
mapped,Given |
| R2465 |
T8556 |
T8555 |
nsubjpass |
SCA16,mapped |
| R2466 |
T8557 |
T8556 |
cc |
and,SCA16 |
| R2467 |
T8367 |
T8365 |
pobj |
mutations,of |
| R2468 |
T8558 |
T8559 |
amod |
autosomal,ataxia |
| R2469 |
T8559 |
T8556 |
conj |
ataxia,SCA16 |
| R2470 |
T8368 |
T8367 |
compound |
ITPR1,mutations |
| R2471 |
T8560 |
T8559 |
amod |
dominant,ataxia |
| R2472 |
T8561 |
T8559 |
amod |
congenital,ataxia |
| R2473 |
T8369 |
T8367 |
acl |
underlying,mutations |
| R2474 |
T8562 |
T8559 |
amod |
nonprogressive,ataxia |
| R2475 |
T8563 |
T8555 |
aux |
have,mapped |
| R2476 |
T8564 |
T8555 |
dep |
both,mapped |
| R2477 |
T8565 |
T8555 |
advmod |
recently,mapped |
| R2478 |
T8566 |
T8555 |
auxpass |
been,mapped |
| R2479 |
T8370 |
T8369 |
dobj |
SCA15,underlying |
| R2480 |
T8567 |
T8555 |
prep |
to,mapped |
| R2481 |
T8568 |
T8567 |
pobj |
regions,to |
| R2482 |
T8569 |
T8568 |
acl |
overlapping,regions |
| R2483 |
T8371 |
T8361 |
aux |
will,help |
| R2484 |
T8570 |
T8569 |
prep |
with,overlapping |
| R2485 |
T8571 |
T8572 |
det |
the,locus |
| R2486 |
T8572 |
T8570 |
pobj |
locus,with |
| R2487 |
T8372 |
T8361 |
xcomp |
elucidate,help |
| R2488 |
T8573 |
T8572 |
compound |
SCA15,locus |
| R2489 |
T8574 |
T8575 |
punct |
[,11 |
| R2490 |
T8373 |
T8374 |
det |
the,mechanism |
| R2491 |
T8575 |
T8555 |
parataxis |
11,mapped |
| R2492 |
T8576 |
T8575 |
nummod |
10,11 |
| R2493 |
T8577 |
T8575 |
punct |
",",11 |
| R2494 |
T8374 |
T8372 |
dobj |
mechanism,elucidate |
| R2495 |
T8578 |
T8575 |
punct |
],11 |
| R2496 |
T8579 |
T8553 |
punct |
", ",is |
| R2497 |
T8580 |
T8553 |
nsubj |
ITPR1,is |
| R2498 |
T8375 |
T8374 |
amod |
pathogenic,mechanism |
| R2499 |
T8581 |
T8582 |
det |
a,gene |
| R2500 |
T8582 |
T8553 |
attr |
gene,is |
| R2501 |
T8376 |
T8374 |
prep |
of,mechanism |
| R2502 |
T8583 |
T8582 |
prep |
of,gene |
| R2503 |
T8584 |
T8583 |
pobj |
importance,of |
| R2504 |
T8585 |
T8584 |
prep |
for,importance |
| R2505 |
T8586 |
T8585 |
pobj |
screening,for |
| R2506 |
T8377 |
T8378 |
det |
this,disorder |
| R2507 |
T8587 |
T8553 |
prep |
in,is |
| R2508 |
T8588 |
T8589 |
det |
these,families |
| R2509 |
T8589 |
T8587 |
pobj |
families,in |
| R2510 |
T8378 |
T8376 |
pobj |
disorder,of |
| R2511 |
T8590 |
T8553 |
punct |
.,is |
| R2512 |
T8379 |
T8361 |
punct |
.,help |
| R2513 |
T8592 |
T8593 |
det |
These,data |
| R2514 |
T8593 |
T8594 |
nsubj |
data,add |
| R2515 |
T8381 |
T8382 |
nsubj |
We,show |
| R2516 |
T8595 |
T8594 |
dobj |
weight,add |
| R2517 |
T8596 |
T8594 |
prep |
to,add |
| R2518 |
T8597 |
T8598 |
det |
a,role |
| R2519 |
T8598 |
T8596 |
pobj |
role,to |
| R2520 |
T8599 |
T8598 |
prep |
for,role |
| R2521 |
T8600 |
T8601 |
amod |
aberrant,signaling |
| R2522 |
T8601 |
T8599 |
pobj |
signaling,for |
| R2523 |
T8602 |
T8601 |
amod |
intracellular,signaling |
| R2524 |
T8603 |
T8601 |
compound |
Ca2+,signaling |
| R2525 |
T8604 |
T8601 |
prep |
in,signaling |
| R2526 |
T8605 |
T8606 |
compound |
Purkinje,cells |
| R2527 |
T8606 |
T8604 |
pobj |
cells,in |
| R2528 |
T8607 |
T8598 |
prep |
in,role |
| R2529 |
T8608 |
T8609 |
det |
the,pathogenesis |
| R2530 |
T8609 |
T8607 |
pobj |
pathogenesis,in |
| R2531 |
T8610 |
T8609 |
prep |
of,pathogenesis |
| R2532 |
T8611 |
T8612 |
amod |
spinocerebellar,ataxia |
| R2533 |
T8612 |
T8610 |
pobj |
ataxia,of |
| R2534 |
T8613 |
T8594 |
punct |
.,add |
| R2535 |
T8971 |
T8972 |
npadvmod |
Genome,wide |
| R2536 |
T8972 |
T8974 |
amod |
wide,linkage |
| R2537 |
T8973 |
T8972 |
punct |
-,wide |
| R2538 |
T8975 |
T8974 |
prep |
in,linkage |
| R2539 |
T8976 |
T8975 |
pobj |
mice,in |
| R2540 |
T8977 |
T8974 |
punct |
.,linkage |
| R2541 |
T8979 |
T8980 |
compound |
One,hundred |
| R2542 |
T8980 |
T8981 |
nummod |
hundred,fragments |
| R2543 |
T8981 |
T8985 |
nsubjpass |
fragments,amplified |
| R2544 |
T8982 |
T8980 |
cc |
and,hundred |
| R2545 |
T8983 |
T8980 |
conj |
twenty,hundred |
| R2546 |
T8984 |
T8981 |
compound |
DNA,fragments |
| R2547 |
T8986 |
T8985 |
auxpass |
were,amplified |
| R2548 |
T8987 |
T8985 |
prep |
across,amplified |
| R2549 |
T8988 |
T8989 |
det |
the,genome |
| R2550 |
T8989 |
T8987 |
pobj |
genome,across |
| R2551 |
T8990 |
T8985 |
punct |
", ",amplified |
| R2552 |
T8991 |
T8985 |
npadvmod |
each,amplified |
| R2553 |
T8992 |
T8991 |
acl |
selected,each |
| R2554 |
T8993 |
T8994 |
aux |
to,contain |
| R2555 |
T8994 |
T8992 |
advcl |
contain,selected |
| R2556 |
T8995 |
T8996 |
nummod |
one,SNPs |
| R2557 |
T8996 |
T8994 |
dobj |
SNPs,contain |
| R2558 |
T8997 |
T8995 |
cc |
or,one |
| R2559 |
T8998 |
T8995 |
conj |
more,one |
| R2560 |
T8999 |
T9000 |
npadvmod |
strain,specific |
| R2561 |
T9000 |
T8996 |
amod |
specific,SNPs |
| R2562 |
T9001 |
T9000 |
punct |
-,specific |
| R2563 |
T9002 |
T9003 |
dep |
that,differentiate |
| R2564 |
T9003 |
T8996 |
relcl |
differentiate,SNPs |
| R2565 |
T9004 |
T9003 |
aux |
would,differentiate |
| R2566 |
T9005 |
T9003 |
prep |
between,differentiate |
| R2567 |
T9006 |
T9007 |
nmod |
C57BL,6J |
| R2568 |
T9007 |
T9009 |
nmod |
6J,strains |
| R2569 |
T9008 |
T9007 |
punct |
/,6J |
| R2570 |
T9009 |
T9005 |
pobj |
strains,between |
| R2571 |
T9010 |
T9007 |
cc |
and,6J |
| R2572 |
T9011 |
T9012 |
compound |
129x1,SvJ |
| R2573 |
T9012 |
T9007 |
conj |
SvJ,6J |
| R2574 |
T9013 |
T9012 |
punct |
/,SvJ |
| R2575 |
T9014 |
T9009 |
amod |
inbred,strains |
| R2576 |
T9015 |
T9016 |
punct |
[,12 |
| R2577 |
T9016 |
T8985 |
parataxis |
12,amplified |
| R2578 |
T9017 |
T9016 |
punct |
],12 |
| R2579 |
T9018 |
T8985 |
punct |
.,amplified |
| R2580 |
T9020 |
T9021 |
det |
Each,fragment |
| R2581 |
T9021 |
T9022 |
nsubjpass |
fragment,amplified |
| R2582 |
T9022 |
T9025 |
ccomp |
amplified,performed |
| R2583 |
T9023 |
T9022 |
auxpass |
was,amplified |
| R2584 |
T9024 |
T9022 |
advmod |
initially,amplified |
| R2585 |
T9026 |
T9022 |
prep |
in,amplified |
| R2586 |
T9027 |
T9028 |
nummod |
11,mice |
| R2587 |
T9028 |
T9026 |
pobj |
mice,in |
| R2588 |
T9029 |
T9028 |
amod |
affected,mice |
| R2589 |
T9030 |
T9028 |
cc |
and,mice |
| R2590 |
T9031 |
T9032 |
nummod |
nine,mice |
| R2591 |
T9032 |
T9028 |
conj |
mice,mice |
| R2592 |
T9033 |
T9032 |
amod |
unaffected,mice |
| R2593 |
T9034 |
T9025 |
punct |
;,performed |
| R2594 |
T9035 |
T9036 |
compound |
genotype,calling |
| R2595 |
T9036 |
T9025 |
nsubjpass |
calling,performed |
| R2596 |
T9037 |
T9025 |
auxpass |
was,performed |
| R2597 |
T9038 |
T9025 |
prep |
by,performed |
| R2598 |
T9039 |
T9040 |
compound |
dye,terminator |
| R2599 |
T9040 |
T9042 |
compound |
terminator,sequencing |
| R2600 |
T9041 |
T9040 |
punct |
-,terminator |
| R2601 |
T9042 |
T9038 |
pobj |
sequencing,by |
| R2602 |
T9043 |
T9042 |
prep |
of,sequencing |
| R2603 |
T9044 |
T9045 |
det |
these,fragments |
| R2604 |
T9045 |
T9043 |
pobj |
fragments,of |
| R2605 |
T9046 |
T9025 |
punct |
.,performed |
| R2606 |
T9048 |
T9049 |
compound |
Linkage,analysis |
| R2607 |
T9049 |
T9050 |
nsubjpass |
analysis,performed |
| R2608 |
T9051 |
T9049 |
acl |
using,analysis |
| R2609 |
T9052 |
T9053 |
det |
these,data |
| R2610 |
T9053 |
T9051 |
dobj |
data,using |
| R2611 |
T9054 |
T9050 |
auxpass |
was,performed |
| R2612 |
T9055 |
T9050 |
advcl |
using,performed |
| R2613 |
T9056 |
T9055 |
dobj |
mlink,using |
| R2614 |
T9057 |
T9058 |
punct |
[,13 |
| R2615 |
T9058 |
T9055 |
parataxis |
13,using |
| R2616 |
T9059 |
T9058 |
punct |
],13 |
| R2617 |
T9060 |
T9050 |
punct |
", ",performed |
| R2618 |
T9061 |
T9062 |
dep |
which,revealed |
| R2619 |
T9062 |
T9050 |
advcl |
revealed,performed |
| R2620 |
T9063 |
T9064 |
det |
a,linkage |
| R2621 |
T9064 |
T9062 |
dobj |
linkage,revealed |
| R2622 |
T9065 |
T9064 |
amod |
positive,linkage |
| R2623 |
T9066 |
T9062 |
prep |
at,revealed |
| R2624 |
T9067 |
T9068 |
compound |
Chromosome,6qE1 |
| R2625 |
T9068 |
T9066 |
pobj |
6qE1,at |
| R2626 |
T9069 |
T9062 |
punct |
", ",revealed |
| R2627 |
T9070 |
T9062 |
prep |
on,revealed |
| R2628 |
T9071 |
T9072 |
det |
the,background |
| R2629 |
T9072 |
T9070 |
pobj |
background,on |
| R2630 |
T9073 |
T9074 |
compound |
129x1,SvJ |
| R2631 |
T9074 |
T9072 |
compound |
SvJ,background |
| R2632 |
T9075 |
T9074 |
punct |
/,SvJ |
| R2633 |
T9076 |
T9077 |
punct |
(,score |
| R2634 |
T9077 |
T9072 |
parataxis |
score,background |
| R2635 |
T9078 |
T9079 |
nummod |
two,point |
| R2636 |
T9079 |
T9077 |
compound |
point,score |
| R2637 |
T9080 |
T9079 |
punct |
-,point |
| R2638 |
T9081 |
T9077 |
compound |
LOD,score |
| R2639 |
T9082 |
T9077 |
nummod |
5.13,score |
| R2640 |
T9083 |
T9077 |
prep |
at,score |
| R2641 |
T9084 |
T9085 |
compound |
marker,20.MMHAP85FLG2 |
| R2642 |
T9085 |
T9083 |
pobj |
20.MMHAP85FLG2,at |
| R2643 |
T9086 |
T9077 |
punct |
),score |
| R2644 |
T9087 |
T9050 |
punct |
.,performed |
| R2645 |
T9089 |
T9090 |
prep |
In,performed |
| R2646 |
T9091 |
T9092 |
det |
an,attempt |
| R2647 |
T9092 |
T9089 |
pobj |
attempt,In |
| R2648 |
T9093 |
T9094 |
aux |
to,narrow |
| R2649 |
T9094 |
T9092 |
acl |
narrow,attempt |
| R2650 |
T9095 |
T9096 |
det |
the,interval |
| R2651 |
T9096 |
T9094 |
dobj |
interval,narrow |
| R2652 |
T9097 |
T9096 |
compound |
disease,interval |
| R2653 |
T9098 |
T9090 |
nsubj |
we,performed |
| R2654 |
T9099 |
T9100 |
compound |
backcross,experiments |
| R2655 |
T9100 |
T9090 |
dobj |
experiments,performed |
| R2656 |
T9101 |
T9102 |
dep |
that,resulted |
| R2657 |
T9102 |
T9100 |
relcl |
resulted,experiments |
| R2658 |
T9103 |
T9102 |
prep |
in,resulted |
| R2659 |
T9104 |
T9105 |
det |
the,generation |
| R2660 |
T9105 |
T9103 |
pobj |
generation,in |
| R2661 |
T9106 |
T9105 |
prep |
of,generation |
| R2662 |
T9107 |
T9108 |
nummod |
three,mice |
| R2663 |
T9108 |
T9106 |
pobj |
mice,of |
| R2664 |
T9109 |
T9108 |
amod |
additional,mice |
| R2665 |
T9110 |
T9108 |
amod |
affected,mice |
| R2666 |
T9111 |
T9090 |
punct |
.,performed |
| R2667 |
T9113 |
T9114 |
nsubj |
Genotyping,revealed |
| R2668 |
T9115 |
T9113 |
prep |
of,Genotyping |
| R2669 |
T9116 |
T9117 |
det |
all,mice |
| R2670 |
T9117 |
T9115 |
pobj |
mice,of |
| R2671 |
T9118 |
T9117 |
amod |
affected,mice |
| R2672 |
T9119 |
T9113 |
prep |
across,Genotyping |
| R2673 |
T9120 |
T9121 |
det |
the,interval |
| R2674 |
T9121 |
T9119 |
pobj |
interval,across |
| R2675 |
T9122 |
T9123 |
npadvmod |
disease,segregating |
| R2676 |
T9123 |
T9121 |
amod |
segregating,interval |
| R2677 |
T9124 |
T9123 |
punct |
-,segregating |
| R2678 |
T9125 |
T9126 |
amod |
flanking,recombinants |
| R2679 |
T9126 |
T9114 |
dobj |
recombinants,revealed |
| R2680 |
T9127 |
T9126 |
cc |
and,recombinants |
| R2681 |
T9128 |
T9129 |
det |
a,region |
| R2682 |
T9129 |
T9126 |
conj |
region,recombinants |
| R2683 |
T9130 |
T9129 |
compound |
candidate,region |
| R2684 |
T9131 |
T9129 |
prep |
of,region |
| R2685 |
T9132 |
T9133 |
punct |
~,5 |
| R2686 |
T9133 |
T9134 |
nummod |
5,Mb |
| R2687 |
T9134 |
T9131 |
pobj |
Mb,of |
| R2688 |
T9135 |
T9114 |
punct |
", ",revealed |
| R2689 |
T9136 |
T9114 |
prep |
between,revealed |
| R2690 |
T9137 |
T9138 |
compound |
markers,D6Mit37 |
| R2691 |
T9138 |
T9136 |
pobj |
D6Mit37,between |
| R2692 |
T9139 |
T9138 |
cc |
and,D6Mit37 |
| R2693 |
T9140 |
T9138 |
conj |
44.MMHAP85FLG5,D6Mit37 |
| R2694 |
T9141 |
T9142 |
punct |
(,S1 |
| R2695 |
T9142 |
T9114 |
parataxis |
S1,revealed |
| R2696 |
T9143 |
T9142 |
compound |
Figure,S1 |
| R2697 |
T9144 |
T9142 |
punct |
),S1 |
| R2698 |
T9145 |
T9114 |
punct |
.,revealed |
| R2699 |
T9147 |
T9148 |
det |
This,region |
| R2700 |
T9148 |
T9149 |
nsubj |
region,contains |
| R2701 |
T9150 |
T9151 |
nummod |
16,genes |
| R2702 |
T9151 |
T9149 |
dobj |
genes,contains |
| R2703 |
T9152 |
T9151 |
cc |
and,genes |
| R2704 |
T9153 |
T9154 |
amod |
predicted,transcripts |
| R2705 |
T9154 |
T9151 |
conj |
transcripts,genes |
| R2706 |
T9155 |
T9149 |
punct |
.,contains |
| R2709 |
T9603 |
T9602 |
prep |
of,Identification |
| R2710 |
T9604 |
T9605 |
det |
the,lesion |
| R2711 |
T9605 |
T9603 |
pobj |
lesion,of |
| R2712 |
T9606 |
T9605 |
amod |
underlying,lesion |
| R2713 |
T9607 |
T9605 |
amod |
genetic,lesion |
| R2714 |
T9608 |
T9602 |
prep |
in,Identification |
| R2715 |
T9609 |
T9608 |
pobj |
mice,in |
| R2716 |
T9610 |
T9602 |
punct |
.,Identification |
| R2717 |
T9612 |
T9613 |
nsubjpass |
Identification,performed |
| R2718 |
T9614 |
T9612 |
prep |
of,Identification |
| R2719 |
T9615 |
T9616 |
amod |
similar,phenotypes |
| R2720 |
T9616 |
T9614 |
pobj |
phenotypes,of |
| R2721 |
T9617 |
T9616 |
prep |
in,phenotypes |
| R2722 |
T9618 |
T9617 |
pobj |
mice,in |
| R2723 |
T9619 |
T9618 |
acl |
linked,mice |
| R2724 |
T9620 |
T9619 |
prep |
to,linked |
| R2725 |
T9621 |
T9622 |
det |
the,interval |
| R2726 |
T9622 |
T9620 |
pobj |
interval,to |
| R2727 |
T9623 |
T9622 |
compound |
6qE1,interval |
| R2728 |
T9624 |
T9613 |
auxpass |
was,performed |
| R2729 |
T9625 |
T9613 |
prep |
by,performed |
| R2730 |
T9626 |
T9627 |
compound |
literature,searches |
| R2731 |
T9627 |
T9625 |
pobj |
searches,by |
| R2732 |
T9628 |
T9613 |
punct |
.,performed |
| R2733 |
T9630 |
T9631 |
nsubj |
This,revealed |
| R2734 |
T9632 |
T9633 |
det |
the,mouse |
| R2735 |
T9633 |
T9631 |
dobj |
mouse,revealed |
| R2736 |
T9634 |
T9635 |
compound |
Itpr1opt,opt |
| R2737 |
T9635 |
T9633 |
compound |
opt,mouse |
| R2738 |
T9636 |
T9635 |
punct |
/,opt |
| R2739 |
T9637 |
T9633 |
punct |
", ",mouse |
| R2740 |
T9638 |
T9639 |
prep |
in,caused |
| R2741 |
T9639 |
T9633 |
relcl |
caused,mouse |
| R2742 |
T9640 |
T9638 |
pobj |
which,in |
| R2743 |
T9641 |
T9639 |
nsubjpass |
disease,caused |
| R2744 |
T9642 |
T9639 |
auxpass |
is,caused |
| R2745 |
T9643 |
T9639 |
agent |
by,caused |
| R2746 |
T9644 |
T9645 |
amod |
homozygous,mutation |
| R2747 |
T9645 |
T9643 |
pobj |
mutation,by |
| R2748 |
T9646 |
T9645 |
compound |
deletion,mutation |
| R2749 |
T9647 |
T9645 |
prep |
of,mutation |
| R2750 |
T9648 |
T9649 |
nmod |
exons,43 |
| R2751 |
T9649 |
T9647 |
pobj |
43,of |
| R2752 |
T9650 |
T9649 |
cc |
and,43 |
| R2753 |
T9651 |
T9649 |
conj |
44,43 |
| R2754 |
T9652 |
T9649 |
prep |
of,43 |
| R2755 |
T9653 |
T9652 |
pobj |
Itpr1,of |
| R2756 |
T9654 |
T9631 |
punct |
.,revealed |
| R2757 |
T9656 |
T9657 |
compound |
Primer,pairs |
| R2758 |
T9657 |
T9658 |
nsubjpass |
pairs,designed |
| R2759 |
T9659 |
T9658 |
auxpass |
were,designed |
| R2760 |
T9660 |
T9661 |
aux |
to,sequence |
| R2761 |
T9661 |
T9658 |
advcl |
sequence,designed |
| R2762 |
T9662 |
T9661 |
dobj |
each,sequence |
| R2763 |
T9663 |
T9662 |
prep |
of,each |
| R2764 |
T9664 |
T9665 |
det |
the,exons |
| R2765 |
T9665 |
T9663 |
pobj |
exons,of |
| R2766 |
T9666 |
T9665 |
compound |
coding,exons |
| R2767 |
T9667 |
T9662 |
cc |
and,each |
| R2768 |
T9668 |
T9669 |
advmod |
at,50 |
| R2769 |
T9669 |
T9671 |
nummod |
50,bp |
| R2770 |
T9670 |
T9669 |
advmod |
least,50 |
| R2771 |
T9671 |
T9662 |
conj |
bp,each |
| R2772 |
T9672 |
T9671 |
prep |
of,bp |
| R2773 |
T9673 |
T9674 |
det |
each,sequence |
| R2774 |
T9674 |
T9672 |
pobj |
sequence,of |
| R2775 |
T9675 |
T9674 |
amod |
flanking,sequence |
| R2776 |
T9676 |
T9674 |
amod |
intronic,sequence |
| R2777 |
T9677 |
T9662 |
prep |
of,each |
| R2778 |
T9678 |
T9677 |
pobj |
Itpr1,of |
| R2779 |
T9679 |
T9658 |
punct |
.,designed |
| R2780 |
T9681 |
T9682 |
compound |
PCR,amplification |
| R2781 |
T9682 |
T9683 |
nsubjpass |
amplification,performed |
| R2782 |
T9684 |
T9682 |
prep |
of,amplification |
| R2783 |
T9685 |
T9686 |
det |
each,exon |
| R2784 |
T9686 |
T9684 |
pobj |
exon,of |
| R2785 |
T9687 |
T9683 |
auxpass |
was,performed |
| R2786 |
T9688 |
T9683 |
advcl |
using,performed |
| R2787 |
T9689 |
T9688 |
dobj |
DNA,using |
| R2788 |
T9690 |
T9689 |
prep |
from,DNA |
| R2789 |
T9691 |
T9692 |
nummod |
two,mice |
| R2790 |
T9692 |
T9690 |
pobj |
mice,from |
| R2791 |
T9693 |
T9692 |
amod |
affected,mice |
| R2792 |
T9694 |
T9688 |
prep |
as,using |
| R2793 |
T9695 |
T9694 |
pobj |
templates,as |
| R2794 |
T9696 |
T9683 |
punct |
.,performed |
| R2795 |
T9698 |
T9699 |
det |
The,mutation |
| R2796 |
T9699 |
T9703 |
nsubjpass |
mutation,confirmed |
| R2797 |
T9700 |
T9701 |
compound |
Itpr1Δ18,Δ18 |
| R2798 |
T9701 |
T9699 |
compound |
Δ18,mutation |
| R2799 |
T9702 |
T9701 |
punct |
/,Δ18 |
| R2800 |
T9704 |
T9703 |
auxpass |
was,confirmed |
| R2801 |
T9705 |
T9703 |
prep |
by,confirmed |
| R2802 |
T9706 |
T9705 |
pobj |
sequencing,by |
| R2803 |
T9707 |
T9703 |
prep |
in,confirmed |
| R2804 |
T9708 |
T9709 |
det |
all,mice |
| R2805 |
T9709 |
T9707 |
pobj |
mice,in |
| R2806 |
T9710 |
T9709 |
amod |
affected,mice |
| R2807 |
T9711 |
T9712 |
punct |
(,S2 |
| R2808 |
T9712 |
T9703 |
parataxis |
S2,confirmed |
| R2809 |
T9713 |
T9712 |
compound |
Figure,S2 |
| R2810 |
T9714 |
T9712 |
punct |
),S2 |
| R2811 |
T9715 |
T9703 |
punct |
.,confirmed |
| R2812 |
T9717 |
T9718 |
amod |
Breeding,experiments |
| R2813 |
T9718 |
T9719 |
nsubjpass |
experiments,performed |
| R2814 |
T9720 |
T9719 |
auxpass |
were,performed |
| R2815 |
T9721 |
T9719 |
prep |
between,performed |
| R2816 |
T9722 |
T9723 |
nummod |
two,mice |
| R2817 |
T9723 |
T9721 |
pobj |
mice,between |
| R2818 |
T9724 |
T9723 |
amod |
female,mice |
| R2819 |
T9725 |
T9723 |
amod |
heterozygous,mice |
| R2820 |
T9726 |
T9725 |
prep |
for,heterozygous |
| R2821 |
T9727 |
T9728 |
det |
the,mutation |
| R2822 |
T9728 |
T9726 |
pobj |
mutation,for |
| R2823 |
T9729 |
T9728 |
amod |
current,mutation |
| R2824 |
T9730 |
T9731 |
punct |
(,Δ18 |
| R2825 |
T9731 |
T9728 |
parataxis |
Δ18,mutation |
| R2826 |
T9732 |
T9731 |
compound |
Itpr1wt,Δ18 |
| R2827 |
T9733 |
T9731 |
punct |
/,Δ18 |
| R2828 |
T9734 |
T9731 |
punct |
),Δ18 |
| R2829 |
T9735 |
T9723 |
cc |
and,mice |
| R2830 |
T9736 |
T9737 |
det |
a,mouse |
| R2831 |
T9737 |
T9723 |
conj |
mouse,mice |
| R2832 |
T9738 |
T9737 |
amod |
male,mouse |
| R2833 |
T9739 |
T9737 |
amod |
heterozygous,mouse |
| R2834 |
T9740 |
T9739 |
prep |
for,heterozygous |
| R2835 |
T9741 |
T9742 |
det |
the,mutation |
| R2836 |
T9742 |
T9740 |
pobj |
mutation,for |
| R2837 |
T9743 |
T9742 |
compound |
Itpr1opt,mutation |
| R2838 |
T9744 |
T9745 |
punct |
(,opt |
| R2839 |
T9745 |
T9742 |
parataxis |
opt,mutation |
| R2840 |
T9746 |
T9745 |
compound |
Itpr1wt,opt |
| R2841 |
T9747 |
T9745 |
punct |
/,opt |
| R2842 |
T9748 |
T9745 |
punct |
),opt |
| R2843 |
T9749 |
T9719 |
punct |
.,performed |
| R2844 |
T9751 |
T9752 |
nsubj |
This,resulted |
| R2845 |
T9753 |
T9752 |
prep |
in,resulted |
| R2846 |
T9754 |
T9755 |
nummod |
two,litters |
| R2847 |
T9755 |
T9753 |
pobj |
litters,in |
| R2848 |
T9756 |
T9755 |
prep |
of,litters |
| R2849 |
T9757 |
T9756 |
pobj |
mice,of |
| R2850 |
T9758 |
T9755 |
prep |
with,litters |
| R2851 |
T9759 |
T9760 |
det |
a,total |
| R2852 |
T9760 |
T9758 |
pobj |
total,with |
| R2853 |
T9761 |
T9760 |
prep |
of,total |
| R2854 |
T9762 |
T9763 |
nummod |
four,pups |
| R2855 |
T9763 |
T9761 |
pobj |
pups,of |
| R2856 |
T9764 |
T9763 |
amod |
affected,pups |
| R2857 |
T9765 |
T9766 |
compound |
Itpr1opt,Δ18 |
| R2858 |
T9766 |
T9763 |
compound |
Δ18,pups |
| R2859 |
T9767 |
T9766 |
punct |
/,Δ18 |
| R2860 |
T9768 |
T9769 |
punct |
(,eight |
| R2861 |
T9769 |
T9763 |
parataxis |
eight,pups |
| R2862 |
T9770 |
T9769 |
prep |
from,eight |
| R2863 |
T9771 |
T9772 |
det |
a,total |
| R2864 |
T9772 |
T9770 |
pobj |
total,from |
| R2865 |
T9773 |
T9772 |
prep |
of,total |
| R2866 |
T9774 |
T9773 |
pobj |
15,of |
| R2867 |
T9775 |
T9769 |
punct |
;,eight |
| R2868 |
T9776 |
T9777 |
quantmod |
two,seven |
| R2869 |
T9777 |
T9769 |
dep |
seven,eight |
| R2870 |
T9778 |
T9777 |
quantmod |
of,seven |
| R2871 |
T9779 |
T9777 |
prep |
from,seven |
| R2872 |
T9780 |
T9781 |
amod |
first,mating |
| R2873 |
T9781 |
T9779 |
pobj |
mating,from |
| R2874 |
T9782 |
T9769 |
punct |
;,eight |
| R2875 |
T9783 |
T9769 |
quantmod |
two,eight |
| R2876 |
T9784 |
T9769 |
quantmod |
of,eight |
| R2877 |
T9785 |
T9769 |
prep |
from,eight |
| R2878 |
T9786 |
T9787 |
det |
the,mating |
| R2879 |
T9787 |
T9785 |
pobj |
mating,from |
| R2880 |
T9788 |
T9787 |
amod |
second,mating |
| R2881 |
T9789 |
T9769 |
punct |
),eight |
| R2882 |
T9790 |
T9763 |
prep |
with,pups |
| R2883 |
T9791 |
T9792 |
det |
a,phenotype |
| R2884 |
T9792 |
T9790 |
pobj |
phenotype,with |
| R2885 |
T9793 |
T9792 |
amod |
indistinguishable,phenotype |
| R2886 |
T9794 |
T9793 |
prep |
from,indistinguishable |
| R2887 |
T9795 |
T9794 |
pobj |
that,from |
| R2888 |
T9796 |
T9795 |
prep |
of,that |
| R2889 |
T9797 |
T9798 |
det |
the,mice |
| R2890 |
T9798 |
T9796 |
pobj |
mice,of |
| R2891 |
T9799 |
T9800 |
nmod |
Itpr1Δ18,Δ18 |
| R2892 |
T9800 |
T9798 |
nmod |
Δ18,mice |
| R2893 |
T9801 |
T9800 |
punct |
/,Δ18 |
| R2894 |
T9802 |
T9800 |
cc |
and,Δ18 |
| R2895 |
T9803 |
T9804 |
compound |
Itpr1opt,opt |
| R2896 |
T9804 |
T9800 |
conj |
opt,Δ18 |
| R2897 |
T9805 |
T9804 |
punct |
/,opt |
| R2898 |
T9806 |
T9752 |
punct |
.,resulted |
| R2899 |
T10117 |
T10116 |
prep |
of,Analysis |
| R2900 |
T10118 |
T10119 |
compound |
Itpr1,protein |
| R2901 |
T10119 |
T10117 |
pobj |
protein,of |
| R2902 |
T10120 |
T10119 |
prep |
in,protein |
| R2903 |
T10121 |
T10120 |
pobj |
mice,in |
| R2904 |
T10122 |
T10116 |
punct |
.,Analysis |
| R2905 |
T10124 |
T10125 |
nsubj |
We,performed |
| R2906 |
T10126 |
T10127 |
compound |
Western,blot |
| R2907 |
T10127 |
T10128 |
compound |
blot,analyses |
| R2908 |
T10128 |
T10125 |
dobj |
analyses,performed |
| R2909 |
T10129 |
T10125 |
advcl |
using,performed |
| R2910 |
T10130 |
T10131 |
amod |
standard,techniques |
| R2911 |
T10131 |
T10129 |
dobj |
techniques,using |
| R2912 |
T10132 |
T10125 |
prep |
with,performed |
| R2913 |
T10133 |
T10134 |
compound |
ECL,kits |
| R2914 |
T10134 |
T10132 |
pobj |
kits,with |
| R2915 |
T10135 |
T10134 |
compound |
detection,kits |
| R2916 |
T10136 |
T10137 |
punct |
(,Amersham |
| R2917 |
T10137 |
T10134 |
parataxis |
Amersham,kits |
| R2918 |
T10138 |
T10137 |
punct |
", ",Amersham |
| R2919 |
T10139 |
T10137 |
npadvmod |
http://www.amersham.com,Amersham |
| R2920 |
T10140 |
T10137 |
punct |
),Amersham |
| R2921 |
T10141 |
T10125 |
punct |
.,performed |
| R2922 |
T10143 |
T10144 |
advmod |
Briefly,homogenized |
| R2923 |
T10145 |
T10144 |
punct |
", ",homogenized |
| R2924 |
T10146 |
T10147 |
amod |
dissected,brains |
| R2925 |
T10147 |
T10144 |
nsubjpass |
brains,homogenized |
| R2926 |
T10148 |
T10147 |
amod |
whole,brains |
| R2927 |
T10149 |
T10147 |
prep |
from,brains |
| R2928 |
T10150 |
T10151 |
amod |
postnatal,day |
| R2929 |
T10151 |
T10152 |
nmod |
day,littermates |
| R2930 |
T10152 |
T10149 |
pobj |
littermates,from |
| R2931 |
T10153 |
T10151 |
nummod |
21,day |
| R2932 |
T10154 |
T10144 |
auxpass |
were,homogenized |
| R2933 |
T10155 |
T10144 |
prep |
in,homogenized |
| R2934 |
T10156 |
T10157 |
det |
a,buffer |
| R2935 |
T10157 |
T10155 |
pobj |
buffer,in |
| R2936 |
T10158 |
T10157 |
acl |
containing,buffer |
| R2937 |
T10159 |
T10160 |
nummod |
50,mM |
| R2938 |
T10160 |
T10161 |
compound |
mM,HCl |
| R2939 |
T10161 |
T10158 |
dobj |
HCl,containing |
| R2940 |
T10162 |
T10161 |
compound |
Tris,HCl |
| R2941 |
T10163 |
T10161 |
punct |
-,HCl |
| R2942 |
T10164 |
T10161 |
punct |
", ",HCl |
| R2943 |
T10165 |
T10166 |
nummod |
150,mM |
| R2944 |
T10166 |
T10167 |
compound |
mM,NaCl |
| R2945 |
T10167 |
T10161 |
conj |
NaCl,HCl |
| R2946 |
T10168 |
T10167 |
punct |
", ",NaCl |
| R2947 |
T10169 |
T10170 |
nummod |
1,mM |
| R2948 |
T10170 |
T10171 |
compound |
mM,EDTA |
| R2949 |
T10171 |
T10167 |
conj |
EDTA,NaCl |
| R2950 |
T10172 |
T10171 |
punct |
", ",EDTA |
| R2951 |
T10173 |
T10174 |
nummod |
1,% |
| R2952 |
T10174 |
T10175 |
compound |
%,X |
| R2953 |
T10175 |
T10171 |
conj |
X,EDTA |
| R2954 |
T10176 |
T10175 |
compound |
Triton,X |
| R2955 |
T10177 |
T10175 |
punct |
-,X |
| R2956 |
T10178 |
T10175 |
nummod |
100,X |
| R2957 |
T10179 |
T10175 |
punct |
", ",X |
| R2958 |
T10180 |
T10181 |
nummod |
1,% |
| R2959 |
T10181 |
T10182 |
compound |
%,deoxycholate |
| R2960 |
T10182 |
T10175 |
conj |
deoxycholate,X |
| R2961 |
T10183 |
T10182 |
compound |
sodium,deoxycholate |
| R2962 |
T10184 |
T10182 |
punct |
", ",deoxycholate |
| R2963 |
T10185 |
T10186 |
nummod |
0.1,% |
| R2964 |
T10186 |
T10187 |
compound |
%,SDS |
| R2965 |
T10187 |
T10182 |
conj |
SDS,deoxycholate |
| R2966 |
T10188 |
T10187 |
punct |
", ",SDS |
| R2967 |
T10189 |
T10187 |
cc |
and,SDS |
| R2968 |
T10190 |
T10191 |
det |
a,cocktail |
| R2969 |
T10191 |
T10187 |
conj |
cocktail,SDS |
| R2970 |
T10192 |
T10191 |
prep |
of,cocktail |
| R2971 |
T10193 |
T10194 |
compound |
protease,inhibitors |
| R2972 |
T10194 |
T10192 |
pobj |
inhibitors,of |
| R2973 |
T10195 |
T10196 |
punct |
(,Roche |
| R2974 |
T10196 |
T10191 |
parataxis |
Roche,cocktail |
| R2975 |
T10197 |
T10196 |
punct |
", ",Roche |
| R2976 |
T10198 |
T10196 |
npadvmod |
http://www.roche.com,Roche |
| R2977 |
T10199 |
T10196 |
punct |
),Roche |
| R2978 |
T10200 |
T10144 |
punct |
.,homogenized |
| R2979 |
T10202 |
T10203 |
nsubjpass |
Homogenates,diluted |
| R2980 |
T10204 |
T10203 |
auxpass |
were,diluted |
| R2981 |
T10205 |
T10203 |
advmod |
appropriately,diluted |
| R2982 |
T10206 |
T10203 |
punct |
", ",diluted |
| R2983 |
T10207 |
T10203 |
conj |
mixed,diluted |
| R2984 |
T10208 |
T10207 |
prep |
with,mixed |
| R2985 |
T10209 |
T10210 |
nummod |
4,buffer |
| R2986 |
T10210 |
T10208 |
pobj |
buffer,with |
| R2987 |
T10211 |
T10209 |
punct |
×,4 |
| R2988 |
T10212 |
T10210 |
amod |
reducing,buffer |
| R2989 |
T10213 |
T10210 |
compound |
sample,buffer |
| R2990 |
T10214 |
T10207 |
punct |
", ",mixed |
| R2991 |
T10215 |
T10207 |
cc |
and,mixed |
| R2992 |
T10216 |
T10207 |
conj |
loaded,mixed |
| R2993 |
T10217 |
T10216 |
prep |
onto,loaded |
| R2994 |
T10218 |
T10219 |
nummod |
4,% |
| R2995 |
T10219 |
T10220 |
nmod |
%,gels |
| R2996 |
T10220 |
T10217 |
pobj |
gels,onto |
| R2997 |
T10221 |
T10222 |
punct |
–,% |
| R2998 |
T10222 |
T10219 |
prep |
%,% |
| R2999 |
T10223 |
T10222 |
nummod |
12,% |
| R3000 |
T10224 |
T10220 |
compound |
precast,gels |
| R3001 |
T10225 |
T10220 |
compound |
gradient,gels |
| R3002 |
T10226 |
T10227 |
punct |
(,Novex |
| R3003 |
T10227 |
T10220 |
parataxis |
Novex,gels |
| R3004 |
T10228 |
T10227 |
punct |
", ",Novex |
| R3005 |
T10229 |
T10227 |
npadvmod |
http://www.invitrogen.com,Novex |
| R3006 |
T10230 |
T10227 |
punct |
),Novex |
| R3007 |
T10231 |
T10216 |
prep |
for,loaded |
| R3008 |
T10232 |
T10233 |
compound |
SDS,PAGE |
| R3009 |
T10233 |
T10231 |
pobj |
PAGE,for |
| R3010 |
T10234 |
T10233 |
punct |
-,PAGE |
| R3011 |
T10235 |
T10233 |
cc |
and,PAGE |
| R3012 |
T10236 |
T10233 |
conj |
immunoblotting,PAGE |
| R3013 |
T10237 |
T10203 |
punct |
.,diluted |
| R3014 |
T10239 |
T10240 |
det |
The,antibodies |
| R3015 |
T10240 |
T10241 |
nsubjpass |
antibodies,used |
| R3016 |
T10242 |
T10240 |
prep |
to,antibodies |
| R3017 |
T10243 |
T10242 |
pobj |
Itpr1,to |
| R3018 |
T10244 |
T10245 |
punct |
(,1 |
| R3019 |
T10245 |
T10243 |
parataxis |
1,Itpr1 |
| R3020 |
T10246 |
T10247 |
punct |
:,"2,000" |
| R3021 |
T10247 |
T10245 |
prep |
"2,000",1 |
| R3022 |
T10248 |
T10245 |
punct |
),1 |
| R3023 |
T10249 |
T10243 |
cc |
and,Itpr1 |
| R3024 |
T10250 |
T10243 |
conj |
Actb,Itpr1 |
| R3025 |
T10251 |
T10252 |
punct |
(,1 |
| R3026 |
T10252 |
T10250 |
parataxis |
1,Actb |
| R3027 |
T10253 |
T10254 |
punct |
:,"5,000" |
| R3028 |
T10254 |
T10252 |
prep |
"5,000",1 |
| R3029 |
T10255 |
T10252 |
punct |
),1 |
| R3030 |
T10256 |
T10241 |
auxpass |
were,used |
| R3031 |
T10257 |
T10258 |
mark |
as,recommended |
| R3032 |
T10258 |
T10241 |
advcl |
recommended,used |
| R3033 |
T10259 |
T10258 |
agent |
by,recommended |
| R3034 |
T10260 |
T10259 |
pobj |
manufacturers,by |
| R3035 |
T10261 |
T10241 |
punct |
.,used |
| R3036 |
T10936 |
T10935 |
punct |
.,Immunohistochemistry |
| R3037 |
T10938 |
T10939 |
nsubjpass |
Brains,isolated |
| R3038 |
T10940 |
T10939 |
auxpass |
were,isolated |
| R3039 |
T10941 |
T10939 |
prep |
from,isolated |
| R3040 |
T10942 |
T10943 |
nummod |
21,d |
| R3041 |
T10943 |
T10945 |
npadvmod |
d,old |
| R3042 |
T10944 |
T10943 |
punct |
-,d |
| R3043 |
T10945 |
T10947 |
amod |
old,mice |
| R3044 |
T10946 |
T10945 |
punct |
-,old |
| R3045 |
T10947 |
T10941 |
pobj |
mice,from |
| R3046 |
T10948 |
T10939 |
punct |
", ",isolated |
| R3047 |
T10949 |
T10939 |
conj |
perfused,isolated |
| R3048 |
T10950 |
T10949 |
prep |
with,perfused |
| R3049 |
T10951 |
T10952 |
nummod |
4,% |
| R3050 |
T10952 |
T10953 |
compound |
%,paraformaldehyde |
| R3051 |
T10953 |
T10950 |
pobj |
paraformaldehyde,with |
| R3052 |
T10954 |
T10953 |
prep |
in,paraformaldehyde |
| R3053 |
T10955 |
T10954 |
pobj |
PBS,in |
| R3054 |
T10956 |
T10949 |
punct |
", ",perfused |
| R3055 |
T10957 |
T10949 |
cc |
and,perfused |
| R3056 |
T10958 |
T10949 |
conj |
post-fixed,perfused |
| R3057 |
T10959 |
T10958 |
advmod |
overnight,post-fixed |
| R3058 |
T10960 |
T10958 |
prep |
in,post-fixed |
| R3059 |
T10961 |
T10962 |
det |
the,fixative |
| R3060 |
T10962 |
T10960 |
pobj |
fixative,in |
| R3061 |
T10963 |
T10962 |
amod |
same,fixative |
| R3062 |
T10964 |
T10939 |
punct |
.,isolated |
| R3063 |
T10966 |
T10967 |
nsubjpass |
Brains,embedded |
| R3064 |
T10968 |
T10967 |
auxpass |
were,embedded |
| R3065 |
T10969 |
T10967 |
prep |
in,embedded |
| R3066 |
T10970 |
T10969 |
pobj |
gelatin,in |
| R3067 |
T10971 |
T10967 |
punct |
", ",embedded |
| R3068 |
T10972 |
T10967 |
cc |
and,embedded |
| R3069 |
T10973 |
T10974 |
nummod |
35,μm |
| R3070 |
T10974 |
T10976 |
nmod |
μm,sections |
| R3071 |
T10975 |
T10974 |
punct |
-,μm |
| R3072 |
T10976 |
T10978 |
nsubjpass |
sections,cut |
| R3073 |
T10977 |
T10976 |
amod |
sagittal,sections |
| R3074 |
T10978 |
T10967 |
conj |
cut,embedded |
| R3075 |
T10979 |
T10978 |
auxpass |
were,cut |
| R3076 |
T10980 |
T10978 |
advcl |
using,cut |
| R3077 |
T10981 |
T10982 |
det |
a,microtome |
| R3078 |
T10982 |
T10980 |
dobj |
microtome,using |
| R3079 |
T10983 |
T10982 |
amod |
sliding,microtome |
| R3080 |
T10984 |
T10985 |
punct |
(,Associates |
| R3081 |
T10985 |
T10982 |
parataxis |
Associates,microtome |
| R3082 |
T10986 |
T10985 |
compound |
NeuroScience,Associates |
| R3083 |
T10987 |
T10985 |
punct |
", ",Associates |
| R3084 |
T10988 |
T10985 |
npadvmod |
http://www.neuroscienceassociates.com,Associates |
| R3085 |
T10989 |
T10985 |
punct |
),Associates |
| R3086 |
T10990 |
T10978 |
punct |
.,cut |
| R3087 |
T10992 |
T10993 |
nsubjpass |
Sections,placed |
| R3088 |
T10994 |
T10992 |
prep |
from,Sections |
| R3089 |
T10995 |
T10996 |
amod |
wild,type |
| R3090 |
T10996 |
T10998 |
nmod |
type,brains |
| R3091 |
T10997 |
T10996 |
punct |
-,type |
| R3092 |
T10998 |
T10994 |
pobj |
brains,from |
| R3093 |
T10999 |
T10996 |
punct |
", ",type |
| R3094 |
T11000 |
T10996 |
conj |
heterozygote,type |
| R3095 |
T11001 |
T11000 |
punct |
", ",heterozygote |
| R3096 |
T11002 |
T11000 |
cc |
and,heterozygote |
| R3097 |
T11003 |
T11000 |
conj |
homozygous,heterozygote |
| R3098 |
T11004 |
T10993 |
auxpass |
were,placed |
| R3099 |
T11005 |
T10993 |
prep |
in,placed |
| R3100 |
T11006 |
T11007 |
det |
the,template |
| R3101 |
T11007 |
T11005 |
pobj |
template,in |
| R3102 |
T11008 |
T11007 |
compound |
MultiBrain,template |
| R3103 |
T11009 |
T10993 |
punct |
.,placed |
| R3104 |
T11011 |
T11012 |
nsubjpass |
Sections,washed |
| R3105 |
T11013 |
T11012 |
auxpass |
were,washed |
| R3106 |
T11014 |
T11012 |
prep |
in,washed |
| R3107 |
T11015 |
T11016 |
nummod |
1,PBS |
| R3108 |
T11016 |
T11014 |
pobj |
PBS,in |
| R3109 |
T11017 |
T11015 |
punct |
×,1 |
| R3110 |
T11018 |
T11019 |
advmod |
prior,to |
| R3111 |
T11019 |
T11012 |
prep |
to,washed |
| R3112 |
T11020 |
T11021 |
nummod |
1,h |
| R3113 |
T11021 |
T11019 |
pobj |
h,to |
| R3114 |
T11022 |
T11021 |
prep |
of,h |
| R3115 |
T11023 |
T11022 |
pobj |
incubation,of |
| R3116 |
T11024 |
T11023 |
prep |
in,incubation |
| R3117 |
T11025 |
T11026 |
compound |
block,solution |
| R3118 |
T11026 |
T11024 |
pobj |
solution,in |
| R3119 |
T11027 |
T11026 |
acl |
containing,solution |
| R3120 |
T11028 |
T11029 |
nummod |
1,PBS |
| R3121 |
T11029 |
T11027 |
dobj |
PBS,containing |
| R3122 |
T11030 |
T11028 |
punct |
×,1 |
| R3123 |
T11031 |
T11029 |
prep |
with,PBS |
| R3124 |
T11032 |
T11033 |
nummod |
20,% |
| R3125 |
T11033 |
T11034 |
nmod |
%,serum |
| R3126 |
T11034 |
T11031 |
pobj |
serum,with |
| R3127 |
T11035 |
T11034 |
amod |
normal,serum |
| R3128 |
T11036 |
T11034 |
compound |
goat,serum |
| R3129 |
T11037 |
T11034 |
cc |
and,serum |
| R3130 |
T11038 |
T11039 |
nummod |
0.3,% |
| R3131 |
T11039 |
T11040 |
compound |
%,X |
| R3132 |
T11040 |
T11034 |
conj |
X,serum |
| R3133 |
T11041 |
T11040 |
compound |
Triton,X |
| R3134 |
T11042 |
T11040 |
punct |
-,X |
| R3135 |
T11043 |
T11040 |
nummod |
100,X |
| R3136 |
T11044 |
T11045 |
punct |
(,pH |
| R3137 |
T11045 |
T11040 |
parataxis |
pH,X |
| R3138 |
T11046 |
T11045 |
nummod |
7.4,pH |
| R3139 |
T11047 |
T11045 |
punct |
),pH |
| R3140 |
T11048 |
T11012 |
punct |
.,washed |
| R3141 |
T11050 |
T11051 |
nsubjpass |
Sections,incubated |
| R3142 |
T11052 |
T11051 |
auxpass |
were,incubated |
| R3143 |
T11053 |
T11051 |
advmod |
overnight,incubated |
| R3144 |
T11054 |
T11051 |
prep |
at,incubated |
| R3145 |
T11055 |
T11056 |
nummod |
4,°C |
| R3146 |
T11056 |
T11054 |
pobj |
°C,at |
| R3147 |
T11057 |
T11051 |
prep |
in,incubated |
| R3148 |
T11058 |
T11059 |
amod |
primary,antibodies |
| R3149 |
T11059 |
T11057 |
pobj |
antibodies,in |
| R3150 |
T11060 |
T11059 |
punct |
: ,antibodies |
| R3151 |
T11061 |
T11062 |
nmod |
affinity,antibody |
| R3152 |
T11062 |
T11059 |
appos |
antibody,antibodies |
| R3153 |
T11063 |
T11062 |
amod |
purified,antibody |
| R3154 |
T11064 |
T11062 |
amod |
polyclonal,antibody |
| R3155 |
T11065 |
T11062 |
compound |
Itpr1,antibody |
| R3156 |
T11066 |
T11067 |
punct |
(,International |
| R3157 |
T11067 |
T11062 |
parataxis |
International,antibody |
| R3158 |
T11068 |
T11067 |
dep |
1,International |
| R3159 |
T11069 |
T11070 |
punct |
:,"2,000" |
| R3160 |
T11070 |
T11068 |
prep |
"2,000",1 |
| R3161 |
T11071 |
T11067 |
punct |
", ",International |
| R3162 |
T11072 |
T11067 |
compound |
Chemicon,International |
| R3163 |
T11073 |
T11067 |
punct |
", ",International |
| R3164 |
T11074 |
T11067 |
npadvmod |
http://www.chemicon.com,International |
| R3165 |
T11075 |
T11067 |
punct |
),International |
| R3166 |
T11076 |
T11062 |
cc |
and,antibody |
| R3167 |
T11077 |
T11078 |
amod |
monoclonal,antibody |
| R3168 |
T11078 |
T11062 |
conj |
antibody,antibody |
| R3169 |
T11079 |
T11078 |
amod |
anti-Calb1,antibody |
| R3170 |
T11080 |
T11081 |
punct |
(,Aldrich |
| R3171 |
T11081 |
T11078 |
parataxis |
Aldrich,antibody |
| R3172 |
T11082 |
T11081 |
dep |
1,Aldrich |
| R3173 |
T11083 |
T11084 |
punct |
:,"6,000" |
| R3174 |
T11084 |
T11082 |
prep |
"6,000",1 |
| R3175 |
T11085 |
T11081 |
punct |
", ",Aldrich |
| R3176 |
T11086 |
T11081 |
compound |
Sigma,Aldrich |
| R3177 |
T11087 |
T11081 |
punct |
-,Aldrich |
| R3178 |
T11088 |
T11081 |
punct |
", ",Aldrich |
| R3179 |
T11089 |
T11081 |
npadvmod |
http://www.sigmaaldrich.com,Aldrich |
| R3180 |
T11090 |
T11081 |
punct |
),Aldrich |
| R3181 |
T11091 |
T11062 |
acl |
diluted,antibody |
| R3182 |
T11092 |
T11091 |
prep |
in,diluted |
| R3183 |
T11093 |
T11094 |
compound |
carrier,solution |
| R3184 |
T11094 |
T11092 |
pobj |
solution,in |
| R3185 |
T11095 |
T11051 |
punct |
.,incubated |
| R3186 |
T11097 |
T11098 |
prep |
Following,incubated |
| R3187 |
T11099 |
T11100 |
amod |
extensive,washes |
| R3188 |
T11100 |
T11097 |
pobj |
washes,Following |
| R3189 |
T11101 |
T11100 |
punct |
(,washes |
| R3190 |
T11102 |
T11100 |
prep |
in,washes |
| R3191 |
T11103 |
T11104 |
nummod |
6.0,ml |
| R3192 |
T11104 |
T11102 |
pobj |
ml,in |
| R3193 |
T11105 |
T11104 |
prep |
of,ml |
| R3194 |
T11106 |
T11105 |
pobj |
PBS,of |
| R3195 |
T11107 |
T11108 |
punct |
", ",times |
| R3196 |
T11108 |
T11100 |
parataxis |
times,washes |
| R3197 |
T11109 |
T11108 |
nummod |
three,times |
| R3198 |
T11110 |
T11108 |
punct |
),times |
| R3199 |
T11111 |
T11098 |
punct |
", ",incubated |
| R3200 |
T11112 |
T11098 |
nsubjpass |
sections,incubated |
| R3201 |
T11113 |
T11098 |
auxpass |
were,incubated |
| R3202 |
T11114 |
T11098 |
prep |
with,incubated |
| R3203 |
T11115 |
T11116 |
amod |
appropriate,antibodies |
| R3204 |
T11116 |
T11114 |
pobj |
antibodies,with |
| R3205 |
T11117 |
T11116 |
amod |
secondary,antibodies |
| R3206 |
T11118 |
T11119 |
punct |
(,IgG |
| R3207 |
T11119 |
T11116 |
parataxis |
IgG,antibodies |
| R3208 |
T11120 |
T11121 |
nmod |
Alexa,Fluor |
| R3209 |
T11121 |
T11119 |
nmod |
Fluor,IgG |
| R3210 |
T11122 |
T11121 |
nummod |
555,Fluor |
| R3211 |
T11123 |
T11119 |
nmod |
goat,IgG |
| R3212 |
T11124 |
T11119 |
amod |
anti-rabbit,IgG |
| R3213 |
T11125 |
T11119 |
cc |
and,IgG |
| R3214 |
T11126 |
T11127 |
nmod |
Alexa,Fluor |
| R3215 |
T11127 |
T11128 |
nmod |
Fluor,IgG |
| R3216 |
T11128 |
T11119 |
conj |
IgG,IgG |
| R3217 |
T11129 |
T11127 |
nummod |
488,Fluor |
| R3218 |
T11130 |
T11128 |
nmod |
goat,IgG |
| R3219 |
T11131 |
T11128 |
amod |
anti-mouse,IgG |
| R3220 |
T11132 |
T11133 |
punct |
[,Invitrogen |
| R3221 |
T11133 |
T11128 |
parataxis |
Invitrogen,IgG |
| R3222 |
T11134 |
T11133 |
punct |
", ",Invitrogen |
| R3223 |
T11135 |
T11133 |
npadvmod |
http://www.invitrogen.com,Invitrogen |
| R3224 |
T11136 |
T11133 |
punct |
],Invitrogen |
| R3225 |
T11137 |
T11119 |
punct |
),IgG |
| R3226 |
T11138 |
T11098 |
prep |
for,incubated |
| R3227 |
T11139 |
T11140 |
nummod |
1,h |
| R3228 |
T11140 |
T11138 |
pobj |
h,for |
| R3229 |
T11141 |
T11098 |
prep |
at,incubated |
| R3230 |
T11142 |
T11143 |
compound |
room,temperature |
| R3231 |
T11143 |
T11141 |
pobj |
temperature,at |
| R3232 |
T11144 |
T11098 |
punct |
.,incubated |
| R3233 |
T11146 |
T11147 |
nsubjpass |
Sections,washed |
| R3234 |
T11148 |
T11147 |
auxpass |
were,washed |
| R3235 |
T11149 |
T11147 |
cc |
and,washed |
| R3236 |
T11150 |
T11147 |
conj |
mounted,washed |
| R3237 |
T11151 |
T11150 |
prep |
on,mounted |
| R3238 |
T11152 |
T11153 |
compound |
glass,slides |
| R3239 |
T11153 |
T11151 |
pobj |
slides,on |
| R3240 |
T11154 |
T11150 |
prep |
in,mounted |
| R3241 |
T11155 |
T11156 |
det |
a,medium |
| R3242 |
T11156 |
T11154 |
pobj |
medium,in |
| R3243 |
T11157 |
T11156 |
amod |
buffered,medium |
| R3244 |
T11158 |
T11156 |
acl |
containing,medium |
| R3245 |
T11159 |
T11158 |
dobj |
Mowiol,containing |
| R3246 |
T11160 |
T11161 |
punct |
(,Calbiochem |
| R3247 |
T11161 |
T11159 |
parataxis |
Calbiochem,Mowiol |
| R3248 |
T11162 |
T11161 |
punct |
", ",Calbiochem |
| R3249 |
T11163 |
T11161 |
npadvmod |
http://www.emdbiosciences.com,Calbiochem |
| R3250 |
T11164 |
T11161 |
punct |
),Calbiochem |
| R3251 |
T11165 |
T11166 |
mark |
as,described |
| R3252 |
T11166 |
T11150 |
advcl |
described,mounted |
| R3253 |
T11167 |
T11166 |
advmod |
earlier,described |
| R3254 |
T11168 |
T11169 |
punct |
[,14 |
| R3255 |
T11169 |
T11150 |
parataxis |
14,mounted |
| R3256 |
T11170 |
T11169 |
punct |
],14 |
| R3257 |
T11171 |
T11147 |
punct |
.,washed |
| R3258 |
T11173 |
T11174 |
nsubjpass |
Sections,imaged |
| R3259 |
T11175 |
T11174 |
auxpass |
were,imaged |
| R3260 |
T11176 |
T11174 |
advcl |
using,imaged |
| R3261 |
T11177 |
T11178 |
det |
a,microscope |
| R3262 |
T11178 |
T11176 |
dobj |
microscope,using |
| R3263 |
T11179 |
T11178 |
nmod |
laser,microscope |
| R3264 |
T11180 |
T11178 |
amod |
scanning,microscope |
| R3265 |
T11181 |
T11178 |
amod |
confocal,microscope |
| R3266 |
T11182 |
T11183 |
punct |
(,Zeiss |
| R3267 |
T11183 |
T11178 |
parataxis |
Zeiss,microscope |
| R3268 |
T11184 |
T11183 |
dep |
LSM,Zeiss |
| R3269 |
T11185 |
T11184 |
nummod |
510,LSM |
| R3270 |
T11186 |
T11183 |
punct |
;,Zeiss |
| R3271 |
T11187 |
T11183 |
punct |
", ",Zeiss |
| R3272 |
T11188 |
T11183 |
npadvmod |
http://www.zeiss.com,Zeiss |
| R3273 |
T11189 |
T11183 |
punct |
),Zeiss |
| R3274 |
T11190 |
T11174 |
punct |
.,imaged |
| R3275 |
T11192 |
T11193 |
compound |
Imaging,parameters |
| R3276 |
T11193 |
T11194 |
nsubjpass |
parameters,optimized |
| R3277 |
T11195 |
T11196 |
punct |
(,pinhole |
| R3278 |
T11196 |
T11193 |
parataxis |
pinhole,parameters |
| R3279 |
T11197 |
T11196 |
punct |
", ",pinhole |
| R3280 |
T11198 |
T11199 |
compound |
detector,gain |
| R3281 |
T11199 |
T11196 |
appos |
gain,pinhole |
| R3282 |
T11200 |
T11196 |
punct |
", ",pinhole |
| R3283 |
T11201 |
T11202 |
compound |
laser,power |
| R3284 |
T11202 |
T11196 |
appos |
power,pinhole |
| R3285 |
T11203 |
T11196 |
punct |
),pinhole |
| R3286 |
T11204 |
T11194 |
auxpass |
were,optimized |
| R3287 |
T11205 |
T11194 |
punct |
", ",optimized |
| R3288 |
T11206 |
T11194 |
cc |
and,optimized |
| R3289 |
T11207 |
T11208 |
auxpass |
were,kept |
| R3290 |
T11208 |
T11194 |
conj |
kept,optimized |
| R3291 |
T11209 |
T11208 |
oprd |
constant,kept |
| R3292 |
T11210 |
T11208 |
prep |
for,kept |
| R3293 |
T11211 |
T11212 |
det |
the,brains |
| R3294 |
T11212 |
T11210 |
pobj |
brains,for |
| R3295 |
T11213 |
T11214 |
amod |
wild,type |
| R3296 |
T11214 |
T11212 |
nmod |
type,brains |
| R3297 |
T11215 |
T11214 |
punct |
-,type |
| R3298 |
T11216 |
T11214 |
punct |
", ",type |
| R3299 |
T11217 |
T11214 |
conj |
heterozygous,type |
| R3300 |
T11218 |
T11217 |
punct |
", ",heterozygous |
| R3301 |
T11219 |
T11217 |
cc |
and,heterozygous |
| R3302 |
T11220 |
T11217 |
conj |
homozygous,heterozygous |
| R3303 |
T11221 |
T11212 |
compound |
mutant,brains |
| R3304 |
T11222 |
T11194 |
punct |
.,optimized |
| R3305 |
T11224 |
T11225 |
nsubjpass |
Specificity,verified |
| R3306 |
T11226 |
T11224 |
prep |
of,Specificity |
| R3307 |
T11227 |
T11228 |
det |
the,antibodies |
| R3308 |
T11228 |
T11226 |
pobj |
antibodies,of |
| R3309 |
T11229 |
T11228 |
compound |
Itpr1,antibodies |
| R3310 |
T11230 |
T11225 |
auxpass |
was,verified |
| R3311 |
T11231 |
T11225 |
prep |
by,verified |
| R3312 |
T11232 |
T11233 |
compound |
preabsorption,experiments |
| R3313 |
T11233 |
T11231 |
pobj |
experiments,by |
| R3314 |
T11234 |
T11233 |
compound |
control,experiments |
| R3315 |
T11235 |
T11225 |
punct |
.,verified |
| R3316 |
T11237 |
T11238 |
compound |
Antibody,dilutions |
| R3317 |
T11238 |
T11239 |
nsubjpass |
dilutions,incubated |
| R3318 |
T11240 |
T11239 |
auxpass |
were,incubated |
| R3319 |
T11241 |
T11239 |
prep |
for,incubated |
| R3320 |
T11242 |
T11243 |
nummod |
24,h |
| R3321 |
T11243 |
T11241 |
pobj |
h,for |
| R3322 |
T11244 |
T11239 |
prep |
at,incubated |
| R3323 |
T11245 |
T11246 |
nummod |
4,°C |
| R3324 |
T11246 |
T11244 |
pobj |
°C,at |
| R3325 |
T11247 |
T11239 |
prep |
with,incubated |
| R3326 |
T11248 |
T11249 |
det |
the,peptide |
| R3327 |
T11249 |
T11247 |
pobj |
peptide,with |
| R3328 |
T11250 |
T11249 |
amod |
immunizing,peptide |
| R3329 |
T11251 |
T11239 |
punct |
.,incubated |
| R3330 |
T11253 |
T11254 |
compound |
Tissue,sections |
| R3331 |
T11254 |
T11255 |
nsubjpass |
sections,incubated |
| R3332 |
T11256 |
T11255 |
auxpass |
were,incubated |
| R3333 |
T11257 |
T11255 |
prep |
with,incubated |
| R3334 |
T11258 |
T11259 |
det |
the,antibodies |
| R3335 |
T11259 |
T11257 |
pobj |
antibodies,with |
| R3336 |
T11260 |
T11259 |
amod |
preabsorbed,antibodies |
| R3337 |
T11261 |
T11255 |
cc |
and,incubated |
| R3338 |
T11262 |
T11255 |
conj |
processed,incubated |
| R3339 |
T11263 |
T11264 |
mark |
as,described |
| R3340 |
T11264 |
T11262 |
advcl |
described,processed |
| R3341 |
T11265 |
T11264 |
advmod |
above,described |
| R3342 |
T11266 |
T11255 |
punct |
.,incubated |
| R3343 |
T11268 |
T11269 |
prep |
Under,detected |
| R3344 |
T11270 |
T11271 |
det |
these,conditions |
| R3345 |
T11271 |
T11268 |
pobj |
conditions,Under |
| R3346 |
T11272 |
T11269 |
punct |
", ",detected |
| R3347 |
T11273 |
T11274 |
det |
no,staining |
| R3348 |
T11274 |
T11269 |
nsubjpass |
staining,detected |
| R3349 |
T11275 |
T11274 |
prep |
above,staining |
| R3350 |
T11276 |
T11275 |
pobj |
autofluorescence,above |
| R3351 |
T11277 |
T11269 |
auxpass |
was,detected |
| R3352 |
T11278 |
T11269 |
punct |
.,detected |
| R3355 |
T12756 |
T12755 |
prep |
of,Analysis |
| R3356 |
T12757 |
T12756 |
pobj |
ITPR1,of |
| R3357 |
T12758 |
T12757 |
prep |
in,ITPR1 |
| R3358 |
T12759 |
T12760 |
compound |
SCA15,patients |
| R3359 |
T12760 |
T12758 |
pobj |
patients,in |
| R3360 |
T12761 |
T12755 |
punct |
.,Analysis |
| R3361 |
T12763 |
T12764 |
nsubjpass |
DNA,extracted |
| R3362 |
T12765 |
T12764 |
auxpass |
was,extracted |
| R3363 |
T12766 |
T12764 |
prep |
from,extracted |
| R3364 |
T12767 |
T12768 |
nmod |
EBV,lymphocytes |
| R3365 |
T12768 |
T12766 |
pobj |
lymphocytes,from |
| R3366 |
T12769 |
T12768 |
amod |
immortalized,lymphocytes |
| R3367 |
T12770 |
T12768 |
punct |
", ",lymphocytes |
| R3368 |
T12771 |
T12768 |
acl |
derived,lymphocytes |
| R3369 |
T12772 |
T12771 |
prep |
from,derived |
| R3370 |
T12773 |
T12774 |
compound |
family,members |
| R3371 |
T12774 |
T12772 |
pobj |
members,from |
| R3372 |
T12775 |
T12764 |
punct |
.,extracted |
| R3373 |
T12777 |
T12778 |
det |
The,exons |
| R3374 |
T12778 |
T12780 |
nsubjpass |
exons,amplified |
| R3375 |
T12779 |
T12778 |
amod |
coding,exons |
| R3376 |
T12781 |
T12778 |
cc |
and,exons |
| R3377 |
T12782 |
T12783 |
advmod |
at,50 |
| R3378 |
T12783 |
T12785 |
nummod |
50,bp |
| R3379 |
T12784 |
T12783 |
advmod |
least,50 |
| R3380 |
T12785 |
T12778 |
conj |
bp,exons |
| R3381 |
T12786 |
T12785 |
prep |
of,bp |
| R3382 |
T12787 |
T12788 |
amod |
flanking,introns |
| R3383 |
T12788 |
T12786 |
pobj |
introns,of |
| R3384 |
T12789 |
T12788 |
prep |
of,introns |
| R3385 |
T12790 |
T12789 |
pobj |
ITPR1,of |
| R3386 |
T12791 |
T12780 |
auxpass |
were,amplified |
| R3387 |
T12792 |
T12780 |
dep |
PCR,amplified |
| R3388 |
T12793 |
T12780 |
cc |
and,amplified |
| R3389 |
T12794 |
T12780 |
conj |
sequenced,amplified |
| R3390 |
T12795 |
T12794 |
advcl |
using,sequenced |
| R3391 |
T12796 |
T12797 |
compound |
dye,terminator |
| R3392 |
T12797 |
T12799 |
compound |
terminator,sequencing |
| R3393 |
T12798 |
T12797 |
punct |
-,terminator |
| R3394 |
T12799 |
T12795 |
dobj |
sequencing,using |
| R3395 |
T12800 |
T12801 |
punct |
(,Biosystems |
| R3396 |
T12801 |
T12799 |
parataxis |
Biosystems,sequencing |
| R3397 |
T12802 |
T12803 |
compound |
BigDye,version |
| R3398 |
T12803 |
T12801 |
dep |
version,Biosystems |
| R3399 |
T12804 |
T12803 |
nummod |
3.1,version |
| R3400 |
T12805 |
T12801 |
punct |
;,Biosystems |
| R3401 |
T12806 |
T12801 |
compound |
Applied,Biosystems |
| R3402 |
T12807 |
T12801 |
punct |
", ",Biosystems |
| R3403 |
T12808 |
T12801 |
npadvmod |
http://www.appliedbiosystems.com,Biosystems |
| R3404 |
T12809 |
T12801 |
punct |
),Biosystems |
| R3405 |
T12810 |
T12780 |
punct |
.,amplified |
| R3406 |
T12812 |
T12813 |
compound |
Sequence,reactions |
| R3407 |
T12813 |
T12814 |
nsubjpass |
reactions,run |
| R3408 |
T12815 |
T12814 |
auxpass |
were,run |
| R3409 |
T12816 |
T12814 |
prep |
on,run |
| R3410 |
T12817 |
T12818 |
det |
an,sequencer |
| R3411 |
T12818 |
T12816 |
pobj |
sequencer,on |
| R3412 |
T12819 |
T12818 |
nmod |
ABI3730XP,sequencer |
| R3413 |
T12820 |
T12818 |
amod |
automated,sequencer |
| R3414 |
T12821 |
T12814 |
prep |
as,run |
| R3415 |
T12822 |
T12821 |
prep |
per,as |
| R3416 |
T12823 |
T12824 |
det |
the,manufacturer |
| R3417 |
T12824 |
T12825 |
poss |
manufacturer,instructions |
| R3418 |
T12825 |
T12822 |
pobj |
instructions,per |
| R3419 |
T12826 |
T12824 |
case |
's,manufacturer |
| R3420 |
T12827 |
T12828 |
punct |
(,Biosystems |
| R3421 |
T12828 |
T12825 |
parataxis |
Biosystems,instructions |
| R3422 |
T12829 |
T12828 |
compound |
Applied,Biosystems |
| R3423 |
T12830 |
T12828 |
punct |
),Biosystems |
| R3424 |
T12831 |
T12814 |
punct |
.,run |
| R3425 |
T12833 |
T12834 |
det |
This,analysis |
| R3426 |
T12834 |
T12835 |
nsubjpass |
analysis,performed |
| R3427 |
T12836 |
T12835 |
auxpass |
was,performed |
| R3428 |
T12837 |
T12835 |
prep |
in,performed |
| R3429 |
T12838 |
T12839 |
det |
all,members |
| R3430 |
T12839 |
T12837 |
pobj |
members,in |
| R3431 |
T12840 |
T12839 |
nummod |
three,members |
| R3432 |
T12841 |
T12839 |
amod |
affected,members |
| R3433 |
T12842 |
T12839 |
compound |
family,members |
| R3434 |
T12843 |
T12844 |
prep |
for,was |
| R3435 |
T12844 |
T12839 |
relcl |
was,members |
| R3436 |
T12845 |
T12843 |
pobj |
whom,for |
| R3437 |
T12846 |
T12847 |
amod |
genomic,DNA |
| R3438 |
T12847 |
T12844 |
nsubj |
DNA,was |
| R3439 |
T12848 |
T12844 |
acomp |
available,was |
| R3440 |
T12849 |
T12850 |
punct |
(,6 |
| R3441 |
T12850 |
T12839 |
parataxis |
6,members |
| R3442 |
T12851 |
T12850 |
nmod |
members,6 |
| R3443 |
T12852 |
T12850 |
punct |
", ",6 |
| R3444 |
T12853 |
T12850 |
conj |
7,6 |
| R3445 |
T12854 |
T12853 |
punct |
", ",7 |
| R3446 |
T12855 |
T12853 |
cc |
and,7 |
| R3447 |
T12856 |
T12853 |
conj |
19,7 |
| R3448 |
T12857 |
T12850 |
punct |
),6 |
| R3449 |
T12858 |
T12835 |
punct |
.,performed |
| R3450 |
T12860 |
T12861 |
compound |
Primer,sequences |
| R3451 |
T12861 |
T12862 |
nsubj |
sequences,are |
| R3452 |
T12863 |
T12861 |
cc |
and,sequences |
| R3453 |
T12864 |
T12861 |
conj |
conditions,sequences |
| R3454 |
T12865 |
T12862 |
acomp |
available,are |
| R3455 |
T12866 |
T12862 |
prep |
upon,are |
| R3456 |
T12867 |
T12866 |
pobj |
request,upon |
| R3457 |
T12868 |
T12862 |
punct |
.,are |
| R3458 |
T12870 |
T12871 |
compound |
Sequence,data |
| R3459 |
T12871 |
T12872 |
nsubjpass |
data,analyzed |
| R3460 |
T12873 |
T12872 |
auxpass |
were,analyzed |
| R3461 |
T12874 |
T12872 |
advcl |
using,analyzed |
| R3462 |
T12875 |
T12874 |
dobj |
Sequencher,using |
| R3463 |
T12876 |
T12877 |
punct |
(,Corporation |
| R3464 |
T12877 |
T12875 |
parataxis |
Corporation,Sequencher |
| R3465 |
T12878 |
T12879 |
compound |
Gene,Codes |
| R3466 |
T12879 |
T12877 |
compound |
Codes,Corporation |
| R3467 |
T12880 |
T12877 |
punct |
", ",Corporation |
| R3468 |
T12881 |
T12877 |
npadvmod |
http://www.genecodes.com,Corporation |
| R3469 |
T12882 |
T12877 |
punct |
),Corporation |
| R3470 |
T12883 |
T12872 |
punct |
.,analyzed |
| R3471 |
T12885 |
T12886 |
npadvmod |
Genome,wide |
| R3472 |
T12886 |
T12888 |
amod |
wide,genotyping |
| R3473 |
T12887 |
T12886 |
punct |
-,wide |
| R3474 |
T12888 |
T12890 |
nsubjpass |
genotyping,performed |
| R3475 |
T12889 |
T12888 |
compound |
SNP,genotyping |
| R3476 |
T12891 |
T12890 |
auxpass |
was,performed |
| R3477 |
T12892 |
T12890 |
advcl |
using,performed |
| R3478 |
T12893 |
T12894 |
compound |
Infinium,SNP |
| R3479 |
T12894 |
T12896 |
compound |
SNP,chips |
| R3480 |
T12895 |
T12894 |
compound |
HumanHap550,SNP |
| R3481 |
T12896 |
T12892 |
dobj |
chips,using |
| R3482 |
T12897 |
T12896 |
compound |
genotyping,chips |
| R3483 |
T12898 |
T12892 |
prep |
as,using |
| R3484 |
T12899 |
T12898 |
prep |
per,as |
| R3485 |
T12900 |
T12901 |
det |
the,manufacturer |
| R3486 |
T12901 |
T12902 |
poss |
manufacturer,protocol |
| R3487 |
T12902 |
T12899 |
pobj |
protocol,per |
| R3488 |
T12903 |
T12901 |
case |
's,manufacturer |
| R3489 |
T12904 |
T12905 |
punct |
(,Illumina |
| R3490 |
T12905 |
T12902 |
parataxis |
Illumina,protocol |
| R3491 |
T12906 |
T12905 |
punct |
", ",Illumina |
| R3492 |
T12907 |
T12905 |
npadvmod |
http://www.illumina.com,Illumina |
| R3493 |
T12908 |
T12905 |
punct |
),Illumina |
| R3494 |
T12909 |
T12890 |
punct |
.,performed |
| R3495 |
T12911 |
T12912 |
det |
This,product |
| R3496 |
T12912 |
T12913 |
nsubj |
product,assays |
| R3497 |
T12914 |
T12915 |
nummod |
"555,352",SNPs |
| R3498 |
T12915 |
T12913 |
dobj |
SNPs,assays |
| R3499 |
T12916 |
T12915 |
amod |
unique,SNPs |
| R3500 |
T12917 |
T12913 |
punct |
.,assays |
| R3501 |
T12919 |
T12920 |
nsubjpass |
Data,collected |
| R3502 |
T12921 |
T12920 |
auxpass |
were,collected |
| R3503 |
T12922 |
T12920 |
advcl |
using,collected |
| R3504 |
T12923 |
T12924 |
det |
the,scanner |
| R3505 |
T12924 |
T12922 |
dobj |
scanner,using |
| R3506 |
T12925 |
T12926 |
compound |
Illumina,BeadStation |
| R3507 |
T12926 |
T12924 |
compound |
BeadStation,scanner |
| R3508 |
T12927 |
T12924 |
cc |
and,scanner |
| R3509 |
T12928 |
T12929 |
compound |
data,collection |
| R3510 |
T12929 |
T12930 |
compound |
collection,software |
| R3511 |
T12930 |
T12924 |
conj |
software,scanner |
| R3512 |
T12931 |
T12920 |
punct |
.,collected |
| R3513 |
T12933 |
T12934 |
nsubjpass |
Genotypes,produced |
| R3514 |
T12935 |
T12934 |
auxpass |
were,produced |
| R3515 |
T12936 |
T12934 |
advcl |
using,produced |
| R3516 |
T12937 |
T12938 |
det |
the,module |
| R3517 |
T12938 |
T12936 |
dobj |
module,using |
| R3518 |
T12939 |
T12938 |
compound |
genotyping,module |
| R3519 |
T12940 |
T12938 |
prep |
of,module |
| R3520 |
T12941 |
T12940 |
pobj |
BeadStudio,of |
| R3521 |
T12942 |
T12943 |
punct |
(,version |
| R3522 |
T12943 |
T12941 |
parataxis |
version,BeadStudio |
| R3523 |
T12944 |
T12943 |
nummod |
2.3.25,version |
| R3524 |
T12945 |
T12943 |
punct |
;,version |
| R3525 |
T12946 |
T12943 |
appos |
Illumina,version |
| R3526 |
T12947 |
T12943 |
punct |
),version |
| R3527 |
T12948 |
T12934 |
punct |
", ",produced |
| R3528 |
T12949 |
T12934 |
cc |
and,produced |
| R3529 |
T12950 |
T12951 |
compound |
log,R |
| R3530 |
T12951 |
T12952 |
compound |
R,ratio |
| R3531 |
T12952 |
T12953 |
nsubjpass |
ratio,visualized |
| R3532 |
T12953 |
T12934 |
conj |
visualized,produced |
| R3533 |
T12954 |
T12952 |
cc |
and,ratio |
| R3534 |
T12955 |
T12956 |
compound |
B,allele |
| R3535 |
T12956 |
T12957 |
compound |
allele,frequency |
| R3536 |
T12957 |
T12952 |
conj |
frequency,ratio |
| R3537 |
T12958 |
T12953 |
auxpass |
were,visualized |
| R3538 |
T12959 |
T12953 |
advcl |
using,visualized |
| R3539 |
T12960 |
T12961 |
det |
the,tool |
| R3540 |
T12961 |
T12959 |
dobj |
tool,using |
| R3541 |
T12962 |
T12961 |
nmod |
genome,tool |
| R3542 |
T12963 |
T12962 |
amod |
viewer,genome |
| R3543 |
T12964 |
T12961 |
prep |
within,tool |
| R3544 |
T12965 |
T12966 |
det |
this,package |
| R3545 |
T12966 |
T12964 |
pobj |
package,within |
| R3546 |
T12967 |
T12953 |
punct |
.,visualized |
| R3547 |
T12969 |
T12970 |
prep |
In,examined |
| R3548 |
T12971 |
T12969 |
pobj |
order,In |
| R3549 |
T12972 |
T12973 |
aux |
to,rule |
| R3550 |
T12973 |
T12971 |
acl |
rule,order |
| R3551 |
T12974 |
T12973 |
prt |
out,rule |
| R3552 |
T12975 |
T12976 |
det |
the,possibility |
| R3553 |
T12976 |
T12973 |
dobj |
possibility,rule |
| R3554 |
T12977 |
T12978 |
mark |
that,was |
| R3555 |
T12978 |
T12976 |
acl |
was,possibility |
| R3556 |
T12979 |
T12980 |
det |
the,deletion |
| R3557 |
T12980 |
T12978 |
nsubj |
deletion,was |
| R3558 |
T12981 |
T12980 |
amod |
observed,deletion |
| R3559 |
T12982 |
T12980 |
prep |
within,deletion |
| R3560 |
T12983 |
T12982 |
pobj |
ITPR1,within |
| R3561 |
T12984 |
T12985 |
det |
a,variant |
| R3562 |
T12985 |
T12978 |
attr |
variant,was |
| R3563 |
T12986 |
T12985 |
amod |
benign,variant |
| R3564 |
T12987 |
T12985 |
compound |
copy,variant |
| R3565 |
T12988 |
T12985 |
compound |
number,variant |
| R3566 |
T12989 |
T12970 |
nsubj |
we,examined |
| R3567 |
T12990 |
T12991 |
nmod |
log,R |
| R3568 |
T12991 |
T12992 |
nmod |
R,ratio |
| R3569 |
T12992 |
T12993 |
nmod |
ratio,metrics |
| R3570 |
T12993 |
T12970 |
dobj |
metrics,examined |
| R3571 |
T12994 |
T12992 |
cc |
and,ratio |
| R3572 |
T12995 |
T12996 |
compound |
B,allele |
| R3573 |
T12996 |
T12997 |
compound |
allele,frequency |
| R3574 |
T12997 |
T12992 |
conj |
frequency,ratio |
| R3575 |
T12998 |
T12993 |
prep |
of,metrics |
| R3576 |
T12999 |
T13000 |
compound |
HumanHap550,data |
| R3577 |
T13000 |
T12998 |
pobj |
data,of |
| R3578 |
T13001 |
T13000 |
compound |
genotyping,data |
| R3579 |
T13002 |
T13000 |
prep |
at,data |
| R3580 |
T13003 |
T13004 |
det |
this,locus |
| R3581 |
T13004 |
T13002 |
pobj |
locus,at |
| R3582 |
T13005 |
T13000 |
prep |
from,data |
| R3583 |
T13006 |
T13007 |
nummod |
577,individuals |
| R3584 |
T13007 |
T13005 |
pobj |
individuals,from |
| R3585 |
T13008 |
T13007 |
prep |
of,individuals |
| R3586 |
T13009 |
T13010 |
amod |
Northern,European |
| R3587 |
T13010 |
T13011 |
amod |
European,descent |
| R3588 |
T13011 |
T13008 |
pobj |
descent,of |
| R3589 |
T13012 |
T13007 |
prep |
from,individuals |
| R3590 |
T13013 |
T13014 |
compound |
North,America |
| R3591 |
T13014 |
T13012 |
pobj |
America,from |
| R3592 |
T13015 |
T13014 |
cc |
and,America |
| R3593 |
T13016 |
T13014 |
conj |
Europe,America |
| R3594 |
T13017 |
T13000 |
punct |
", ",data |
| R3595 |
T13018 |
T13000 |
acl |
produced,data |
| R3596 |
T13019 |
T13018 |
agent |
by,produced |
| R3597 |
T13020 |
T13019 |
pobj |
us,by |
| R3598 |
T13021 |
T13018 |
prep |
as,produced |
| R3599 |
T13022 |
T13023 |
det |
a,part |
| R3600 |
T13023 |
T13021 |
pobj |
part,as |
| R3601 |
T13024 |
T13023 |
prep |
of,part |
| R3602 |
T13025 |
T13026 |
det |
an,study |
| R3603 |
T13026 |
T13024 |
pobj |
study,of |
| R3604 |
T13027 |
T13026 |
amod |
ongoing,study |
| R3605 |
T13028 |
T12970 |
punct |
.,examined |
| R3606 |
T13030 |
T13031 |
prep |
In,designed |
| R3607 |
T13032 |
T13033 |
det |
an,attempt |
| R3608 |
T13033 |
T13030 |
pobj |
attempt,In |
| R3609 |
T13034 |
T13035 |
aux |
to,narrow |
| R3610 |
T13035 |
T13033 |
acl |
narrow,attempt |
| R3611 |
T13036 |
T13037 |
det |
the,intervals |
| R3612 |
T13037 |
T13035 |
dobj |
intervals,narrow |
| R3613 |
T13038 |
T13037 |
amod |
unknown,intervals |
| R3614 |
T13039 |
T13037 |
acl |
flanking,intervals |
| R3615 |
T13040 |
T13041 |
det |
the,deletion |
| R3616 |
T13041 |
T13039 |
dobj |
deletion,flanking |
| R3617 |
T13042 |
T13041 |
acl |
observed,deletion |
| R3618 |
T13043 |
T13042 |
prep |
in,observed |
| R3619 |
T13044 |
T13045 |
compound |
family,AUS1 |
| R3620 |
T13045 |
T13043 |
pobj |
AUS1,in |
| R3621 |
T13046 |
T13031 |
punct |
", ",designed |
| R3622 |
T13047 |
T13031 |
nsubj |
we,designed |
| R3623 |
T13048 |
T13031 |
dobj |
primers,designed |
| R3624 |
T13049 |
T13048 |
prep |
for,primers |
| R3625 |
T13050 |
T13051 |
nummod |
30,amplifications |
| R3626 |
T13051 |
T13049 |
pobj |
amplifications,for |
| R3627 |
T13052 |
T13051 |
compound |
PCR,amplifications |
| R3628 |
T13053 |
T13054 |
dep |
that,generate |
| R3629 |
T13054 |
T13051 |
relcl |
generate,amplifications |
| R3630 |
T13055 |
T13054 |
aux |
would,generate |
| R3631 |
T13056 |
T13057 |
amod |
overlapping,fragments |
| R3632 |
T13057 |
T13054 |
dobj |
fragments,generate |
| R3633 |
T13058 |
T13054 |
prep |
across,generate |
| R3634 |
T13059 |
T13060 |
det |
the,regions |
| R3635 |
T13060 |
T13058 |
pobj |
regions,across |
| R3636 |
T13061 |
T13060 |
nummod |
two,regions |
| R3637 |
T13062 |
T13060 |
compound |
bordering,regions |
| R3638 |
T13063 |
T13064 |
punct |
(,sequence |
| R3639 |
T13064 |
T13060 |
parataxis |
sequence,regions |
| R3640 |
T13065 |
T13064 |
compound |
primer,sequence |
| R3641 |
T13066 |
T13064 |
cc |
and,sequence |
| R3642 |
T13067 |
T13064 |
conj |
conditions,sequence |
| R3643 |
T13068 |
T13064 |
amod |
available,sequence |
| R3644 |
T13069 |
T13068 |
prep |
upon,available |
| R3645 |
T13070 |
T13069 |
pobj |
request,upon |
| R3646 |
T13071 |
T13064 |
punct |
),sequence |
| R3647 |
T13072 |
T13031 |
punct |
.,designed |
| R3648 |
T13074 |
T13075 |
expl |
There,were |
| R3649 |
T13076 |
T13077 |
nummod |
ten,pairs |
| R3650 |
T13077 |
T13075 |
attr |
pairs,were |
| R3651 |
T13078 |
T13077 |
compound |
primer,pairs |
| R3652 |
T13079 |
T13077 |
prep |
in,pairs |
| R3653 |
T13080 |
T13081 |
det |
the,region |
| R3654 |
T13081 |
T13079 |
pobj |
region,in |
| R3655 |
T13082 |
T13081 |
amod |
telomeric,region |
| R3656 |
T13083 |
T13081 |
compound |
flanking,region |
| R3657 |
T13084 |
T13077 |
cc |
and,pairs |
| R3658 |
T13085 |
T13086 |
nummod |
20,pairs |
| R3659 |
T13086 |
T13077 |
conj |
pairs,pairs |
| R3660 |
T13087 |
T13086 |
prep |
in,pairs |
| R3661 |
T13088 |
T13089 |
det |
the,region |
| R3662 |
T13089 |
T13087 |
pobj |
region,in |
| R3663 |
T13090 |
T13089 |
amod |
centromeric,region |
| R3664 |
T13091 |
T13089 |
compound |
flanking,region |
| R3665 |
T13092 |
T13093 |
punct |
(,S3 |
| R3666 |
T13093 |
T13075 |
parataxis |
S3,were |
| R3667 |
T13094 |
T13093 |
compound |
Figure,S3 |
| R3668 |
T13095 |
T13093 |
punct |
),S3 |
| R3669 |
T13096 |
T13075 |
punct |
.,were |
| R3670 |
T13098 |
T13099 |
prep |
On,was |
| R3671 |
T13100 |
T13098 |
amod |
average,On |
| R3672 |
T13101 |
T13102 |
det |
each,product |
| R3673 |
T13102 |
T13099 |
nsubj |
product,was |
| R3674 |
T13103 |
T13104 |
punct |
~,750 |
| R3675 |
T13104 |
T13105 |
nummod |
750,bp |
| R3676 |
T13105 |
T13099 |
attr |
bp,was |
| R3677 |
T13106 |
T13105 |
prep |
in,bp |
| R3678 |
T13107 |
T13106 |
pobj |
size,in |
| R3679 |
T13108 |
T13099 |
punct |
", ",was |
| R3680 |
T13109 |
T13099 |
cc |
and,was |
| R3681 |
T13110 |
T13111 |
nsubjpass |
amplifications,performed |
| R3682 |
T13111 |
T13099 |
conj |
performed,was |
| R3683 |
T13112 |
T13111 |
auxpass |
were,performed |
| R3684 |
T13113 |
T13111 |
advcl |
using,performed |
| R3685 |
T13114 |
T13115 |
amod |
genomic,DNA |
| R3686 |
T13115 |
T13113 |
dobj |
DNA,using |
| R3687 |
T13116 |
T13113 |
prep |
from,using |
| R3688 |
T13117 |
T13116 |
pobj |
each,from |
| R3689 |
T13118 |
T13117 |
prep |
of,each |
| R3690 |
T13119 |
T13120 |
det |
the,individuals |
| R3691 |
T13120 |
T13118 |
pobj |
individuals,of |
| R3692 |
T13121 |
T13120 |
nummod |
three,individuals |
| R3693 |
T13122 |
T13120 |
amod |
affected,individuals |
| R3694 |
T13123 |
T13124 |
punct |
(,6 |
| R3695 |
T13124 |
T13120 |
parataxis |
6,individuals |
| R3696 |
T13125 |
T13124 |
nmod |
family,6 |
| R3697 |
T13126 |
T13124 |
nmod |
members,6 |
| R3698 |
T13127 |
T13124 |
punct |
", ",6 |
| R3699 |
T13128 |
T13124 |
conj |
7,6 |
| R3700 |
T13129 |
T13128 |
punct |
", ",7 |
| R3701 |
T13130 |
T13128 |
cc |
and,7 |
| R3702 |
T13131 |
T13128 |
conj |
19,7 |
| R3703 |
T13132 |
T13124 |
punct |
),6 |
| R3704 |
T13133 |
T13111 |
punct |
.,performed |
| R3705 |
T13135 |
T13136 |
compound |
Dye,terminator |
| R3706 |
T13136 |
T13138 |
compound |
terminator,sequencing |
| R3707 |
T13137 |
T13136 |
punct |
-,terminator |
| R3708 |
T13138 |
T13139 |
nsubjpass |
sequencing,performed |
| R3709 |
T13139 |
T13144 |
ccomp |
performed,performed |
| R3710 |
T13140 |
T13138 |
prep |
of,sequencing |
| R3711 |
T13141 |
T13142 |
det |
each,product |
| R3712 |
T13142 |
T13140 |
pobj |
product,of |
| R3713 |
T13143 |
T13139 |
auxpass |
was,performed |
| R3714 |
T13145 |
T13139 |
advcl |
using,performed |
| R3715 |
T13146 |
T13147 |
det |
the,primers |
| R3716 |
T13147 |
T13145 |
dobj |
primers,using |
| R3717 |
T13148 |
T13147 |
amod |
forward,primers |
| R3718 |
T13149 |
T13148 |
cc |
and,forward |
| R3719 |
T13150 |
T13148 |
conj |
reverse,forward |
| R3720 |
T13151 |
T13147 |
acl |
designed,primers |
| R3721 |
T13152 |
T13151 |
prep |
for,designed |
| R3722 |
T13153 |
T13152 |
pobj |
amplification,for |
| R3723 |
T13154 |
T13144 |
punct |
;,performed |
| R3724 |
T13155 |
T13156 |
amod |
running,analysis |
| R3725 |
T13156 |
T13144 |
nsubjpass |
analysis,performed |
| R3726 |
T13157 |
T13156 |
cc |
and,analysis |
| R3727 |
T13158 |
T13156 |
prep |
of,analysis |
| R3728 |
T13159 |
T13160 |
det |
each,fragment |
| R3729 |
T13160 |
T13158 |
pobj |
fragment,of |
| R3730 |
T13161 |
T13144 |
auxpass |
was,performed |
| R3731 |
T13162 |
T13163 |
mark |
as,described |
| R3732 |
T13163 |
T13144 |
advcl |
described,performed |
| R3733 |
T13164 |
T13163 |
advmod |
above,described |
| R3734 |
T13165 |
T13144 |
punct |
.,performed |
| R3735 |
T13167 |
T13168 |
nsubjpass |
Amplification,denoted |
| R3736 |
T13168 |
T13178 |
ccomp |
denoted,inferred |
| R3737 |
T13169 |
T13167 |
prep |
of,Amplification |
| R3738 |
T13170 |
T13171 |
det |
a,fragment |
| R3739 |
T13171 |
T13169 |
pobj |
fragment,of |
| R3740 |
T13172 |
T13171 |
prep |
from,fragment |
| R3741 |
T13173 |
T13174 |
det |
a,genome |
| R3742 |
T13174 |
T13172 |
pobj |
genome,from |
| R3743 |
T13175 |
T13174 |
amod |
normal,genome |
| R3744 |
T13176 |
T13174 |
amod |
diploid,genome |
| R3745 |
T13177 |
T13168 |
auxpass |
was,denoted |
| R3746 |
T13179 |
T13168 |
agent |
by,denoted |
| R3747 |
T13180 |
T13181 |
det |
the,presence |
| R3748 |
T13181 |
T13179 |
pobj |
presence,by |
| R3749 |
T13182 |
T13181 |
prep |
of,presence |
| R3750 |
T13183 |
T13184 |
det |
a,polymorphism |
| R3751 |
T13184 |
T13182 |
pobj |
polymorphism,of |
| R3752 |
T13185 |
T13184 |
amod |
heterozygous,polymorphism |
| R3753 |
T13186 |
T13178 |
punct |
;,inferred |
| R3754 |
T13187 |
T13178 |
nsubjpass |
amplification,inferred |
| R3755 |
T13188 |
T13187 |
prep |
of,amplification |
| R3756 |
T13189 |
T13190 |
det |
a,fragment |
| R3757 |
T13190 |
T13188 |
pobj |
fragment,of |
| R3758 |
T13191 |
T13190 |
prep |
from,fragment |
| R3759 |
T13192 |
T13193 |
det |
a,region |
| R3760 |
T13193 |
T13191 |
pobj |
region,from |
| R3761 |
T13194 |
T13193 |
prep |
of,region |
| R3762 |
T13195 |
T13196 |
det |
the,genome |
| R3763 |
T13196 |
T13194 |
pobj |
genome,of |
| R3764 |
T13197 |
T13196 |
acl |
harboring,genome |
| R3765 |
T13198 |
T13199 |
det |
a,deletion |
| R3766 |
T13199 |
T13197 |
dobj |
deletion,harboring |
| R3767 |
T13200 |
T13199 |
amod |
heterozygous,deletion |
| R3768 |
T13201 |
T13199 |
amod |
genomic,deletion |
| R3769 |
T13202 |
T13178 |
auxpass |
was,inferred |
| R3770 |
T13203 |
T13204 |
advmod |
when,noted |
| R3771 |
T13204 |
T13178 |
advcl |
noted,inferred |
| R3772 |
T13205 |
T13204 |
nsubjpass |
homozygosity,noted |
| R3773 |
T13206 |
T13205 |
prep |
for,homozygosity |
| R3774 |
T13207 |
T13208 |
det |
the,allele |
| R3775 |
T13208 |
T13206 |
pobj |
allele,for |
| R3776 |
T13209 |
T13208 |
amod |
major,allele |
| R3777 |
T13210 |
T13208 |
cc |
and,allele |
| R3778 |
T13211 |
T13212 |
det |
the,allele |
| R3779 |
T13212 |
T13208 |
conj |
allele,allele |
| R3780 |
T13213 |
T13212 |
amod |
minor,allele |
| R3781 |
T13214 |
T13204 |
auxpass |
were,noted |
| R3782 |
T13215 |
T13204 |
prep |
among,noted |
| R3783 |
T13216 |
T13217 |
det |
the,members |
| R3784 |
T13217 |
T13215 |
pobj |
members,among |
| R3785 |
T13218 |
T13217 |
nummod |
three,members |
| R3786 |
T13219 |
T13217 |
amod |
affected,members |
| R3787 |
T13220 |
T13217 |
compound |
family,members |
| R3788 |
T13221 |
T13222 |
punct |
(,is |
| R3789 |
T13222 |
T13204 |
parataxis |
is,noted |
| R3790 |
T13223 |
T13222 |
advmod |
i.e.,is |
| R3791 |
T13224 |
T13222 |
punct |
", ",is |
| R3792 |
T13225 |
T13222 |
nsubj |
this,is |
| R3793 |
T13226 |
T13222 |
acomp |
inconsistent,is |
| R3794 |
T13227 |
T13226 |
prep |
with,inconsistent |
| R3795 |
T13228 |
T13229 |
amod |
Mendelian,inheritance |
| R3796 |
T13229 |
T13227 |
pobj |
inheritance,with |
| R3797 |
T13230 |
T13229 |
prep |
in,inheritance |
| R3798 |
T13231 |
T13232 |
amod |
related,individuals |
| R3799 |
T13232 |
T13230 |
pobj |
individuals,in |
| R3800 |
T13233 |
T13232 |
acl |
known,individuals |
| R3801 |
T13234 |
T13235 |
aux |
to,share |
| R3802 |
T13235 |
T13233 |
xcomp |
share,known |
| R3803 |
T13236 |
T13237 |
det |
a,haplotype |
| R3804 |
T13237 |
T13235 |
dobj |
haplotype,share |
| R3805 |
T13238 |
T13237 |
amod |
common,haplotype |
| R3806 |
T13239 |
T13222 |
punct |
),is |
| R3807 |
T13240 |
T13178 |
punct |
.,inferred |
| R3808 |
T13242 |
T13243 |
advcl |
Using,were |
| R3809 |
T13244 |
T13245 |
det |
the,data |
| R3810 |
T13245 |
T13242 |
dobj |
data,Using |
| R3811 |
T13246 |
T13242 |
prep |
from,Using |
| R3812 |
T13247 |
T13248 |
det |
the,experiments |
| R3813 |
T13248 |
T13246 |
pobj |
experiments,from |
| R3814 |
T13249 |
T13248 |
acl |
described,experiments |
| R3815 |
T13250 |
T13249 |
advmod |
above,described |
| R3816 |
T13251 |
T13243 |
nsubj |
we,were |
| R3817 |
T13252 |
T13243 |
acomp |
able,were |
| R3818 |
T13253 |
T13254 |
aux |
to,limit |
| R3819 |
T13254 |
T13252 |
xcomp |
limit,able |
| R3820 |
T13255 |
T13256 |
det |
the,size |
| R3821 |
T13256 |
T13254 |
dobj |
size,limit |
| R3822 |
T13257 |
T13256 |
prep |
of,size |
| R3823 |
T13258 |
T13259 |
amod |
unknown,regions |
| R3824 |
T13259 |
T13257 |
pobj |
regions,of |
| R3825 |
T13260 |
T13259 |
acl |
flanking,regions |
| R3826 |
T13261 |
T13262 |
det |
the,deletion |
| R3827 |
T13262 |
T13260 |
dobj |
deletion,flanking |
| R3828 |
T13263 |
T13254 |
prep |
to,limit |
| R3829 |
T13264 |
T13265 |
punct |
~,4 |
| R3830 |
T13265 |
T13266 |
nummod |
4,kb |
| R3831 |
T13266 |
T13263 |
pobj |
kb,to |
| R3832 |
T13267 |
T13266 |
prep |
on,kb |
| R3833 |
T13268 |
T13269 |
det |
the,side |
| R3834 |
T13269 |
T13267 |
pobj |
side,on |
| R3835 |
T13270 |
T13269 |
amod |
telomeric,side |
| R3836 |
T13271 |
T13266 |
cc |
and,kb |
| R3837 |
T13272 |
T13273 |
nummod |
7,kb |
| R3838 |
T13273 |
T13266 |
conj |
kb,kb |
| R3839 |
T13274 |
T13273 |
prep |
on,kb |
| R3840 |
T13275 |
T13276 |
det |
the,side |
| R3841 |
T13276 |
T13274 |
pobj |
side,on |
| R3842 |
T13277 |
T13276 |
amod |
centromeric,side |
| R3843 |
T13278 |
T13243 |
punct |
.,were |
| R3844 |
T13280 |
T13281 |
det |
All,combinations |
| R3845 |
T13281 |
T13282 |
nsubjpass |
combinations,used |
| R3846 |
T13283 |
T13281 |
prep |
of,combinations |
| R3847 |
T13284 |
T13285 |
amod |
forward,primers |
| R3848 |
T13285 |
T13283 |
pobj |
primers,of |
| R3849 |
T13286 |
T13285 |
prep |
from,primers |
| R3850 |
T13287 |
T13288 |
det |
the,region |
| R3851 |
T13288 |
T13286 |
pobj |
region,from |
| R3852 |
T13289 |
T13290 |
advmod |
newly,defined |
| R3853 |
T13290 |
T13288 |
amod |
defined,region |
| R3854 |
T13291 |
T13281 |
acl |
flanking,combinations |
| R3855 |
T13292 |
T13293 |
det |
the,deletion |
| R3856 |
T13293 |
T13291 |
dobj |
deletion,flanking |
| R3857 |
T13294 |
T13291 |
prep |
on,flanking |
| R3858 |
T13295 |
T13296 |
det |
the,side |
| R3859 |
T13296 |
T13294 |
pobj |
side,on |
| R3860 |
T13297 |
T13296 |
amod |
telomeric,side |
| R3861 |
T13298 |
T13291 |
prep |
with,flanking |
| R3862 |
T13299 |
T13300 |
amod |
reverse,primers |
| R3863 |
T13300 |
T13298 |
pobj |
primers,with |
| R3864 |
T13301 |
T13300 |
prep |
from,primers |
| R3865 |
T13302 |
T13303 |
det |
the,region |
| R3866 |
T13303 |
T13301 |
pobj |
region,from |
| R3867 |
T13304 |
T13305 |
advmod |
newly,defined |
| R3868 |
T13305 |
T13303 |
amod |
defined,region |
| R3869 |
T13306 |
T13300 |
acl |
flanking,primers |
| R3870 |
T13307 |
T13308 |
det |
the,deletion |
| R3871 |
T13308 |
T13306 |
dobj |
deletion,flanking |
| R3872 |
T13309 |
T13306 |
prep |
on,flanking |
| R3873 |
T13310 |
T13311 |
det |
the,side |
| R3874 |
T13311 |
T13309 |
pobj |
side,on |
| R3875 |
T13312 |
T13311 |
amod |
centromeric,side |
| R3876 |
T13313 |
T13282 |
auxpass |
were,used |
| R3877 |
T13314 |
T13282 |
prep |
in,used |
| R3878 |
T13315 |
T13316 |
compound |
PCR,amplification |
| R3879 |
T13316 |
T13317 |
compound |
amplification,reactions |
| R3880 |
T13317 |
T13314 |
pobj |
reactions,in |
| R3881 |
T13318 |
T13317 |
acl |
performed,reactions |
| R3882 |
T13319 |
T13318 |
prep |
with,performed |
| R3883 |
T13320 |
T13319 |
pobj |
DNA,with |
| R3884 |
T13321 |
T13320 |
prep |
from,DNA |
| R3885 |
T13322 |
T13323 |
det |
the,members |
| R3886 |
T13323 |
T13321 |
pobj |
members,from |
| R3887 |
T13324 |
T13323 |
nummod |
three,members |
| R3888 |
T13325 |
T13323 |
amod |
affected,members |
| R3889 |
T13326 |
T13323 |
compound |
family,members |
| R3890 |
T13327 |
T13323 |
cc |
and,members |
| R3891 |
T13328 |
T13329 |
amod |
single,members |
| R3892 |
T13329 |
T13323 |
conj |
members,members |
| R3893 |
T13330 |
T13329 |
amod |
unaffected,members |
| R3894 |
T13331 |
T13329 |
compound |
family,members |
| R3895 |
T13332 |
T13282 |
punct |
.,used |
| R3896 |
T13334 |
T13335 |
det |
This,experiment |
| R3897 |
T13335 |
T13336 |
nsubjpass |
experiment,performed |
| R3898 |
T13337 |
T13336 |
auxpass |
was,performed |
| R3899 |
T13338 |
T13336 |
prep |
in,performed |
| R3900 |
T13339 |
T13340 |
det |
an,attempt |
| R3901 |
T13340 |
T13338 |
pobj |
attempt,in |
| R3902 |
T13341 |
T13342 |
aux |
to,amplify |
| R3903 |
T13342 |
T13340 |
acl |
amplify,attempt |
| R3904 |
T13343 |
T13342 |
prep |
across,amplify |
| R3905 |
T13344 |
T13345 |
det |
the,fragment |
| R3906 |
T13345 |
T13343 |
pobj |
fragment,across |
| R3907 |
T13346 |
T13345 |
amod |
deleted,fragment |
| R3908 |
T13347 |
T13342 |
cc |
and,amplify |
| R3909 |
T13348 |
T13342 |
conj |
define,amplify |
| R3910 |
T13349 |
T13350 |
det |
the,breakpoint |
| R3911 |
T13350 |
T13348 |
dobj |
breakpoint,define |
| R3912 |
T13351 |
T13350 |
amod |
exact,breakpoint |
| R3913 |
T13352 |
T13336 |
punct |
.,performed |
| R3914 |
T13354 |
T13355 |
det |
A,fragment |
| R3915 |
T13355 |
T13357 |
nsubjpass |
fragment,obtained |
| R3916 |
T13356 |
T13355 |
amod |
single,fragment |
| R3917 |
T13358 |
T13357 |
auxpass |
was,obtained |
| R3918 |
T13359 |
T13357 |
prep |
from,obtained |
| R3919 |
T13360 |
T13361 |
det |
the,primer |
| R3920 |
T13361 |
T13359 |
pobj |
primer,from |
| R3921 |
T13362 |
T13361 |
amod |
third,primer |
| R3922 |
T13363 |
T13361 |
amod |
forward,primer |
| R3923 |
T13364 |
T13361 |
prep |
from,primer |
| R3924 |
T13365 |
T13366 |
det |
the,side |
| R3925 |
T13366 |
T13364 |
pobj |
side,from |
| R3926 |
T13367 |
T13366 |
amod |
telomeric,side |
| R3927 |
T13368 |
T13369 |
punct |
(,TGAATGCTCAATTTTCCAGC |
| R3928 |
T13369 |
T13361 |
parataxis |
TGAATGCTCAATTTTCCAGC,primer |
| R3929 |
T13370 |
T13369 |
nmod |
T3f,TGAATGCTCAATTTTCCAGC |
| R3930 |
T13371 |
T13369 |
nummod |
5,TGAATGCTCAATTTTCCAGC |
| R3931 |
T13372 |
T13371 |
punct |
′,5 |
| R3932 |
T13373 |
T13369 |
punct |
-,TGAATGCTCAATTTTCCAGC |
| R3933 |
T13374 |
T13369 |
punct |
-,TGAATGCTCAATTTTCCAGC |
| R3934 |
T13375 |
T13369 |
nummod |
3,TGAATGCTCAATTTTCCAGC |
| R3935 |
T13376 |
T13369 |
punct |
′,TGAATGCTCAATTTTCCAGC |
| R3936 |
T13377 |
T13369 |
punct |
),TGAATGCTCAATTTTCCAGC |
| R3937 |
T13378 |
T13357 |
prep |
with,obtained |
| R3938 |
T13379 |
T13380 |
det |
the,primer |
| R3939 |
T13380 |
T13378 |
pobj |
primer,with |
| R3940 |
T13381 |
T13380 |
amod |
11th,primer |
| R3941 |
T13382 |
T13380 |
amod |
reverse,primer |
| R3942 |
T13383 |
T13380 |
prep |
from,primer |
| R3943 |
T13384 |
T13385 |
det |
the,side |
| R3944 |
T13385 |
T13383 |
pobj |
side,from |
| R3945 |
T13386 |
T13385 |
amod |
centromeric,side |
| R3946 |
T13387 |
T13388 |
punct |
(,GGGAAAATGGATAGAGGGTG |
| R3947 |
T13388 |
T13380 |
parataxis |
GGGAAAATGGATAGAGGGTG,primer |
| R3948 |
T13389 |
T13388 |
nmod |
C11r,GGGAAAATGGATAGAGGGTG |
| R3949 |
T13390 |
T13388 |
nummod |
5,GGGAAAATGGATAGAGGGTG |
| R3950 |
T13391 |
T13390 |
punct |
′,5 |
| R3951 |
T13392 |
T13388 |
punct |
-,GGGAAAATGGATAGAGGGTG |
| R3952 |
T13393 |
T13388 |
punct |
-,GGGAAAATGGATAGAGGGTG |
| R3953 |
T13394 |
T13388 |
nummod |
3,GGGAAAATGGATAGAGGGTG |
| R3954 |
T13395 |
T13388 |
punct |
′,GGGAAAATGGATAGAGGGTG |
| R3955 |
T13396 |
T13388 |
punct |
),GGGAAAATGGATAGAGGGTG |
| R3956 |
T13397 |
T13357 |
punct |
.,obtained |
| R3957 |
T13399 |
T13400 |
det |
The,fragment |
| R3958 |
T13400 |
T13401 |
nsubjpass |
fragment,sequenced |
| R3959 |
T13402 |
T13400 |
punct |
", ",fragment |
| R3960 |
T13403 |
T13404 |
dep |
which,is |
| R3961 |
T13404 |
T13400 |
relcl |
is,fragment |
| R3962 |
T13405 |
T13406 |
nummod |
953,bp |
| R3963 |
T13406 |
T13404 |
attr |
bp,is |
| R3964 |
T13407 |
T13406 |
prep |
in,bp |
| R3965 |
T13408 |
T13407 |
pobj |
size,in |
| R3966 |
T13409 |
T13401 |
punct |
", ",sequenced |
| R3967 |
T13410 |
T13401 |
auxpass |
was,sequenced |
| R3968 |
T13411 |
T13412 |
mark |
as,described |
| R3969 |
T13412 |
T13401 |
advcl |
described,sequenced |
| R3970 |
T13413 |
T13412 |
advmod |
above,described |
| R3971 |
T13414 |
T13412 |
cc |
and,described |
| R3972 |
T13415 |
T13412 |
conj |
compared,described |
| R3973 |
T13416 |
T13415 |
prep |
to,compared |
| R3974 |
T13417 |
T13418 |
det |
the,build |
| R3975 |
T13418 |
T13416 |
pobj |
build,to |
| R3976 |
T13419 |
T13418 |
amod |
current,build |
| R3977 |
T13420 |
T13418 |
prep |
of,build |
| R3978 |
T13421 |
T13422 |
det |
the,genome |
| R3979 |
T13422 |
T13420 |
pobj |
genome,of |
| R3980 |
T13423 |
T13422 |
amod |
human,genome |
| R3981 |
T13424 |
T13401 |
punct |
.,sequenced |
| R3982 |
T13426 |
T13427 |
det |
A,series |
| R3983 |
T13427 |
T13429 |
nsubjpass |
series,performed |
| R3984 |
T13428 |
T13427 |
amod |
similar,series |
| R3985 |
T13429 |
T13433 |
ccomp |
performed,were |
| R3986 |
T13430 |
T13427 |
prep |
of,series |
| R3987 |
T13431 |
T13430 |
pobj |
experiments,of |
| R3988 |
T13432 |
T13429 |
auxpass |
was,performed |
| R3989 |
T13434 |
T13435 |
aux |
to,identify |
| R3990 |
T13435 |
T13429 |
advcl |
identify,performed |
| R3991 |
T13436 |
T13437 |
det |
the,breakpoints |
| R3992 |
T13437 |
T13435 |
dobj |
breakpoints,identify |
| R3993 |
T13438 |
T13437 |
compound |
deletion,breakpoints |
| R3994 |
T13439 |
T13437 |
prep |
in,breakpoints |
| R3995 |
T13440 |
T13441 |
compound |
families,H27 |
| R3996 |
T13441 |
T13439 |
pobj |
H27,in |
| R3997 |
T13442 |
T13441 |
cc |
and,H27 |
| R3998 |
T13443 |
T13441 |
conj |
H33,H27 |
| R3999 |
T13444 |
T13433 |
punct |
;,were |
| R4000 |
T13445 |
T13433 |
nsubj |
we,were |
| R4001 |
T13446 |
T13433 |
acomp |
able,were |
| R4002 |
T13447 |
T13448 |
aux |
to,amplify |
| R4003 |
T13448 |
T13446 |
xcomp |
amplify,able |
| R4004 |
T13449 |
T13450 |
det |
a,product |
| R4005 |
T13450 |
T13448 |
dobj |
product,amplify |
| R4006 |
T13451 |
T13452 |
nummod |
369,bp |
| R4007 |
T13452 |
T13450 |
compound |
bp,product |
| R4008 |
T13453 |
T13452 |
punct |
-,bp |
| R4009 |
T13454 |
T13450 |
compound |
PCR,product |
| R4010 |
T13455 |
T13448 |
prep |
across,amplify |
| R4011 |
T13456 |
T13457 |
det |
the,breakpoint |
| R4012 |
T13457 |
T13455 |
pobj |
breakpoint,across |
| R4013 |
T13458 |
T13457 |
acl |
found,breakpoint |
| R4014 |
T13459 |
T13458 |
prep |
in,found |
| R4015 |
T13460 |
T13461 |
amod |
affected,members |
| R4016 |
T13461 |
T13459 |
pobj |
members,in |
| R4017 |
T13462 |
T13461 |
prep |
of,members |
| R4018 |
T13463 |
T13464 |
compound |
family,H27 |
| R4019 |
T13464 |
T13462 |
pobj |
H27,of |
| R4020 |
T13465 |
T13448 |
advcl |
using,amplify |
| R4021 |
T13466 |
T13467 |
compound |
primer,pair |
| R4022 |
T13467 |
T13465 |
dobj |
pair,using |
| R4023 |
T13468 |
T13469 |
nmod |
H27,11F |
| R4024 |
T13469 |
T13471 |
nmod |
11F,GACCTCAAGAAGGCATGAATAC |
| R4025 |
T13470 |
T13469 |
punct |
-,11F |
| R4026 |
T13471 |
T13467 |
appos |
GACCTCAAGAAGGCATGAATAC,pair |
| R4027 |
T13472 |
T13471 |
nummod |
5,GACCTCAAGAAGGCATGAATAC |
| R4028 |
T13473 |
T13472 |
punct |
′,5 |
| R4029 |
T13474 |
T13471 |
punct |
-,GACCTCAAGAAGGCATGAATAC |
| R4030 |
T13475 |
T13471 |
punct |
-,GACCTCAAGAAGGCATGAATAC |
| R4031 |
T13476 |
T13471 |
nummod |
3,GACCTCAAGAAGGCATGAATAC |
| R4032 |
T13477 |
T13471 |
punct |
′,GACCTCAAGAAGGCATGAATAC |
| R4033 |
T13478 |
T13471 |
cc |
and,GACCTCAAGAAGGCATGAATAC |
| R4034 |
T13479 |
T13480 |
nmod |
H27,3R |
| R4035 |
T13480 |
T13482 |
nmod |
3R,ATGGTGGCCAGGTACACAAG |
| R4036 |
T13481 |
T13480 |
punct |
-,3R |
| R4037 |
T13482 |
T13471 |
conj |
ATGGTGGCCAGGTACACAAG,GACCTCAAGAAGGCATGAATAC |
| R4038 |
T13483 |
T13482 |
nummod |
5,ATGGTGGCCAGGTACACAAG |
| R4039 |
T13484 |
T13483 |
punct |
′,5 |
| R4040 |
T13485 |
T13482 |
punct |
-,ATGGTGGCCAGGTACACAAG |
| R4041 |
T13486 |
T13482 |
punct |
-,ATGGTGGCCAGGTACACAAG |
| R4042 |
T13487 |
T13482 |
nummod |
3,ATGGTGGCCAGGTACACAAG |
| R4043 |
T13488 |
T13482 |
punct |
′,ATGGTGGCCAGGTACACAAG |
| R4044 |
T13489 |
T13490 |
punct |
(,S4 |
| R4045 |
T13490 |
T13465 |
parataxis |
S4,using |
| R4046 |
T13491 |
T13490 |
compound |
Figure,S4 |
| R4047 |
T13492 |
T13490 |
punct |
),S4 |
| R4048 |
T13493 |
T13433 |
punct |
", ",were |
| R4049 |
T13494 |
T13433 |
cc |
but,were |
| R4050 |
T13495 |
T13496 |
prep |
to,been |
| R4051 |
T13496 |
T13433 |
conj |
been,were |
| R4052 |
T13497 |
T13495 |
pobj |
date,to |
| R4053 |
T13498 |
T13496 |
nsubj |
we,been |
| R4054 |
T13499 |
T13496 |
aux |
have,been |
| R4055 |
T13500 |
T13496 |
acomp |
unable,been |
| R4056 |
T13501 |
T13502 |
aux |
to,identify |
| R4057 |
T13502 |
T13500 |
xcomp |
identify,unable |
| R4058 |
T13503 |
T13504 |
det |
the,breakpoint |
| R4059 |
T13504 |
T13502 |
dobj |
breakpoint,identify |
| R4060 |
T13505 |
T13504 |
prep |
in,breakpoint |
| R4061 |
T13506 |
T13507 |
compound |
family,H33 |
| R4062 |
T13507 |
T13505 |
pobj |
H33,in |
| R4063 |
T13508 |
T13433 |
punct |
.,were |
| R4064 |
T13807 |
T13808 |
compound |
Western,blot |
| R4065 |
T13808 |
T13809 |
compound |
blot,analysis |
| R4066 |
T13810 |
T13809 |
prep |
in,analysis |
| R4067 |
T13811 |
T13812 |
compound |
SCA15,patients |
| R4068 |
T13812 |
T13810 |
pobj |
patients,in |
| R4069 |
T13813 |
T13809 |
punct |
.,analysis |
| R4070 |
T13815 |
T13816 |
nmod |
EBV,lymphoblasts |
| R4071 |
T13816 |
T13818 |
nsubjpass |
lymphoblasts,used |
| R4072 |
T13817 |
T13816 |
amod |
immortalized,lymphoblasts |
| R4073 |
T13818 |
T13836 |
ccomp |
used,came |
| R4074 |
T13819 |
T13816 |
prep |
from,lymphoblasts |
| R4075 |
T13820 |
T13821 |
nummod |
three,members |
| R4076 |
T13821 |
T13819 |
pobj |
members,from |
| R4077 |
T13822 |
T13821 |
amod |
affected,members |
| R4078 |
T13823 |
T13821 |
compound |
family,members |
| R4079 |
T13824 |
T13825 |
dep |
who,carry |
| R4080 |
T13825 |
T13821 |
relcl |
carry,members |
| R4081 |
T13826 |
T13827 |
det |
the,deletion |
| R4082 |
T13827 |
T13825 |
dobj |
deletion,carry |
| R4083 |
T13828 |
T13821 |
cc |
and,members |
| R4084 |
T13829 |
T13830 |
nummod |
one,member |
| R4085 |
T13830 |
T13821 |
conj |
member,members |
| R4086 |
T13831 |
T13830 |
compound |
family,member |
| R4087 |
T13832 |
T13830 |
prep |
without,member |
| R4088 |
T13833 |
T13834 |
det |
the,mutation |
| R4089 |
T13834 |
T13832 |
pobj |
mutation,without |
| R4090 |
T13835 |
T13818 |
auxpass |
were,used |
| R4091 |
T13837 |
T13818 |
prep |
as,used |
| R4092 |
T13838 |
T13839 |
det |
a,source |
| R4093 |
T13839 |
T13837 |
pobj |
source,as |
| R4094 |
T13840 |
T13841 |
advmod |
readily,accessible |
| R4095 |
T13841 |
T13839 |
amod |
accessible,source |
| R4096 |
T13842 |
T13839 |
prep |
of,source |
| R4097 |
T13843 |
T13842 |
pobj |
protein,of |
| R4098 |
T13844 |
T13836 |
punct |
;,came |
| R4099 |
T13845 |
T13846 |
det |
all,samples |
| R4100 |
T13846 |
T13836 |
nsubj |
samples,came |
| R4101 |
T13847 |
T13836 |
prep |
from,came |
| R4102 |
T13848 |
T13847 |
pobj |
members,from |
| R4103 |
T13849 |
T13848 |
prep |
of,members |
| R4104 |
T13850 |
T13851 |
compound |
family,AUS1 |
| R4105 |
T13851 |
T13849 |
pobj |
AUS1,of |
| R4106 |
T13852 |
T13836 |
punct |
.,came |
| R4107 |
T13854 |
T13855 |
compound |
Protein,extraction |
| R4108 |
T13855 |
T13856 |
nsubjpass |
extraction,performed |
| R4109 |
T13857 |
T13856 |
auxpass |
was,performed |
| R4110 |
T13858 |
T13856 |
advcl |
using,performed |
| R4111 |
T13859 |
T13860 |
compound |
lysis,buffer |
| R4112 |
T13860 |
T13858 |
dobj |
buffer,using |
| R4113 |
T13861 |
T13860 |
acl |
containing,buffer |
| R4114 |
T13862 |
T13863 |
nummod |
1,TBS |
| R4115 |
T13863 |
T13861 |
dobj |
TBS,containing |
| R4116 |
T13864 |
T13862 |
punct |
×,1 |
| R4117 |
T13865 |
T13863 |
punct |
", ",TBS |
| R4118 |
T13866 |
T13867 |
nummod |
1,% |
| R4119 |
T13867 |
T13868 |
compound |
%,X |
| R4120 |
T13868 |
T13863 |
conj |
X,TBS |
| R4121 |
T13869 |
T13868 |
compound |
Triton,X |
| R4122 |
T13870 |
T13868 |
punct |
-,X |
| R4123 |
T13871 |
T13868 |
nummod |
100,X |
| R4124 |
T13872 |
T13868 |
punct |
", ",X |
| R4125 |
T13873 |
T13868 |
cc |
and,X |
| R4126 |
T13874 |
T13875 |
det |
a,cocktail |
| R4127 |
T13875 |
T13868 |
conj |
cocktail,X |
| R4128 |
T13876 |
T13875 |
prep |
of,cocktail |
| R4129 |
T13877 |
T13878 |
compound |
protease,inhibitors |
| R4130 |
T13878 |
T13876 |
pobj |
inhibitors,of |
| R4131 |
T13879 |
T13880 |
punct |
(,Roche |
| R4132 |
T13880 |
T13878 |
parataxis |
Roche,inhibitors |
| R4133 |
T13881 |
T13880 |
punct |
),Roche |
| R4134 |
T13882 |
T13856 |
prep |
with,performed |
| R4135 |
T13883 |
T13884 |
amod |
overnight,lysis |
| R4136 |
T13884 |
T13882 |
pobj |
lysis,with |
| R4137 |
T13885 |
T13856 |
prep |
at,performed |
| R4138 |
T13886 |
T13887 |
punct |
−,80 |
| R4139 |
T13887 |
T13888 |
nummod |
80,°C |
| R4140 |
T13888 |
T13885 |
pobj |
°C,at |
| R4141 |
T13889 |
T13856 |
punct |
.,performed |
| R4142 |
T13891 |
T13892 |
nsubjpass |
Homogenates,diluted |
| R4143 |
T13893 |
T13892 |
auxpass |
were,diluted |
| R4144 |
T13894 |
T13892 |
advmod |
appropriately,diluted |
| R4145 |
T13895 |
T13892 |
punct |
", ",diluted |
| R4146 |
T13896 |
T13892 |
conj |
mixed,diluted |
| R4147 |
T13897 |
T13896 |
prep |
with,mixed |
| R4148 |
T13898 |
T13899 |
nummod |
4,buffer |
| R4149 |
T13899 |
T13897 |
pobj |
buffer,with |
| R4150 |
T13900 |
T13898 |
punct |
×,4 |
| R4151 |
T13901 |
T13899 |
amod |
reducing,buffer |
| R4152 |
T13902 |
T13899 |
compound |
sample,buffer |
| R4153 |
T13903 |
T13896 |
punct |
", ",mixed |
| R4154 |
T13904 |
T13896 |
cc |
and,mixed |
| R4155 |
T13905 |
T13896 |
conj |
loaded,mixed |
| R4156 |
T13906 |
T13905 |
prep |
onto,loaded |
| R4157 |
T13907 |
T13908 |
nummod |
4,% |
| R4158 |
T13908 |
T13909 |
nmod |
%,gels |
| R4159 |
T13909 |
T13906 |
pobj |
gels,onto |
| R4160 |
T13910 |
T13911 |
punct |
–,% |
| R4161 |
T13911 |
T13908 |
prep |
%,% |
| R4162 |
T13912 |
T13911 |
nummod |
12,% |
| R4163 |
T13913 |
T13909 |
amod |
precast,gels |
| R4164 |
T13914 |
T13909 |
compound |
gradient,gels |
| R4165 |
T13915 |
T13916 |
punct |
(,NuPAGE |
| R4166 |
T13916 |
T13909 |
parataxis |
NuPAGE,gels |
| R4167 |
T13917 |
T13916 |
punct |
", ",NuPAGE |
| R4168 |
T13918 |
T13916 |
appos |
Invitrogen,NuPAGE |
| R4169 |
T13919 |
T13916 |
punct |
),NuPAGE |
| R4170 |
T13920 |
T13905 |
prep |
for,loaded |
| R4171 |
T13921 |
T13922 |
compound |
SDS,PAGE |
| R4172 |
T13922 |
T13920 |
pobj |
PAGE,for |
| R4173 |
T13923 |
T13922 |
punct |
-,PAGE |
| R4174 |
T13924 |
T13922 |
cc |
and,PAGE |
| R4175 |
T13925 |
T13922 |
conj |
immunoblotting,PAGE |
| R4176 |
T13926 |
T13892 |
punct |
.,diluted |
| R4177 |
T13928 |
T13929 |
det |
The,antibodies |
| R4178 |
T13929 |
T13930 |
nsubjpass |
antibodies,used |
| R4179 |
T13931 |
T13929 |
prep |
to,antibodies |
| R4180 |
T13932 |
T13931 |
pobj |
ITPR1,to |
| R4181 |
T13933 |
T13934 |
punct |
(,1 |
| R4182 |
T13934 |
T13932 |
parataxis |
1,ITPR1 |
| R4183 |
T13935 |
T13936 |
punct |
:,"1,000" |
| R4184 |
T13936 |
T13934 |
prep |
"1,000",1 |
| R4185 |
T13937 |
T13934 |
punct |
),1 |
| R4186 |
T13938 |
T13932 |
cc |
and,ITPR1 |
| R4187 |
T13939 |
T13932 |
conj |
ACTB,ITPR1 |
| R4188 |
T13940 |
T13941 |
punct |
(,1 |
| R4189 |
T13941 |
T13939 |
parataxis |
1,ACTB |
| R4190 |
T13942 |
T13943 |
punct |
:,"5,000" |
| R4191 |
T13943 |
T13941 |
prep |
"5,000",1 |
| R4192 |
T13944 |
T13941 |
punct |
),1 |
| R4193 |
T13945 |
T13930 |
auxpass |
were,used |
| R4194 |
T13946 |
T13947 |
mark |
as,recommended |
| R4195 |
T13947 |
T13930 |
advcl |
recommended,used |
| R4196 |
T13948 |
T13947 |
agent |
by,recommended |
| R4197 |
T13949 |
T13948 |
pobj |
manufacturers,by |
| R4198 |
T13950 |
T13930 |
punct |
.,used |
| R4199 |
T14400 |
T14399 |
cc |
and,Immunohistochemistry |
| R4200 |
T14401 |
T14402 |
compound |
Western,Blot |
| R4201 |
T14402 |
T14403 |
compound |
Blot,Analysis |
| R4202 |
T14403 |
T14399 |
conj |
Analysis,Immunohistochemistry |
| R4203 |
T14404 |
T14399 |
prep |
of,Immunohistochemistry |
| R4204 |
T14405 |
T14406 |
compound |
ITPR1,Levels |
| R4205 |
T14406 |
T14404 |
pobj |
Levels,of |
| R4206 |
T14407 |
T14406 |
compound |
Protein,Levels |
| R4207 |
T14408 |
T14406 |
prep |
in,Levels |
| R4208 |
T14409 |
T14410 |
compound |
Mouse,Cerebellum |
| R4209 |
T14410 |
T14408 |
pobj |
Cerebellum,in |
| R4210 |
T14412 |
T14413 |
punct |
(,A |
| R4211 |
T14413 |
T14414 |
meta |
A,Immunohistochemistry |
| R4212 |
T14415 |
T14413 |
punct |
–,A |
| R4213 |
T14416 |
T14413 |
dep |
F,A |
| R4214 |
T14417 |
T14413 |
punct |
),A |
| R4215 |
T14418 |
T14414 |
prep |
of,Immunohistochemistry |
| R4216 |
T14419 |
T14418 |
pobj |
cerebellum,of |
| R4217 |
T14420 |
T14419 |
prep |
from,cerebellum |
| R4218 |
T14421 |
T14422 |
det |
a,mouse |
| R4219 |
T14422 |
T14420 |
pobj |
mouse,from |
| R4220 |
T14423 |
T14424 |
amod |
wild,type |
| R4221 |
T14424 |
T14422 |
compound |
type,mouse |
| R4222 |
T14425 |
T14424 |
punct |
-,type |
| R4223 |
T14426 |
T14427 |
punct |
(,A |
| R4224 |
T14427 |
T14422 |
parataxis |
A,mouse |
| R4225 |
T14428 |
T14427 |
cc |
and,A |
| R4226 |
T14429 |
T14427 |
conj |
D,A |
| R4227 |
T14430 |
T14427 |
punct |
),A |
| R4228 |
T14431 |
T14422 |
punct |
", ",mouse |
| R4229 |
T14432 |
T14433 |
det |
a,mouse |
| R4230 |
T14433 |
T14422 |
conj |
mouse,mouse |
| R4231 |
T14434 |
T14433 |
amod |
heterozygous,mouse |
| R4232 |
T14435 |
T14434 |
prep |
for,heterozygous |
| R4233 |
T14436 |
T14437 |
det |
the,deletion |
| R4234 |
T14437 |
T14435 |
pobj |
deletion,for |
| R4235 |
T14438 |
T14437 |
nmod |
Itpr1,deletion |
| R4236 |
T14439 |
T14440 |
nummod |
18,bp |
| R4237 |
T14440 |
T14437 |
compound |
bp,deletion |
| R4238 |
T14441 |
T14440 |
punct |
-,bp |
| R4239 |
T14442 |
T14443 |
punct |
(,B |
| R4240 |
T14443 |
T14433 |
parataxis |
B,mouse |
| R4241 |
T14444 |
T14443 |
cc |
and,B |
| R4242 |
T14445 |
T14443 |
conj |
E,B |
| R4243 |
T14446 |
T14443 |
punct |
),B |
| R4244 |
T14447 |
T14433 |
punct |
", ",mouse |
| R4245 |
T14448 |
T14433 |
cc |
and,mouse |
| R4246 |
T14449 |
T14450 |
det |
a,mouse |
| R4247 |
T14450 |
T14433 |
conj |
mouse,mouse |
| R4248 |
T14451 |
T14450 |
amod |
homozygous,mouse |
| R4249 |
T14452 |
T14451 |
prep |
for,homozygous |
| R4250 |
T14453 |
T14454 |
det |
the,deletion |
| R4251 |
T14454 |
T14452 |
pobj |
deletion,for |
| R4252 |
T14455 |
T14456 |
nummod |
18,bp |
| R4253 |
T14456 |
T14454 |
compound |
bp,deletion |
| R4254 |
T14457 |
T14456 |
punct |
-,bp |
| R4255 |
T14458 |
T14454 |
compound |
Itpr1,deletion |
| R4256 |
T14459 |
T14460 |
punct |
(,C |
| R4257 |
T14460 |
T14450 |
parataxis |
C,mouse |
| R4258 |
T14461 |
T14460 |
cc |
and,C |
| R4259 |
T14462 |
T14460 |
conj |
F,C |
| R4260 |
T14463 |
T14460 |
punct |
),C |
| R4261 |
T14464 |
T14414 |
punct |
.,Immunohistochemistry |
| R4262 |
T14466 |
T14467 |
punct |
(,A |
| R4263 |
T14467 |
T14468 |
meta |
A,Immunohistochemistry |
| R4264 |
T14469 |
T14467 |
punct |
–,A |
| R4265 |
T14470 |
T14467 |
dep |
C,A |
| R4266 |
T14471 |
T14467 |
punct |
),A |
| R4267 |
T14472 |
T14468 |
acl |
using,Immunohistochemistry |
| R4268 |
T14473 |
T14474 |
amod |
polyclonal,antibody |
| R4269 |
T14474 |
T14472 |
dobj |
antibody,using |
| R4270 |
T14475 |
T14474 |
nmod |
Itpr1,antibody |
| R4271 |
T14476 |
T14474 |
amod |
anti-rabbit,antibody |
| R4272 |
T14477 |
T14478 |
punct |
(,Fluor |
| R4273 |
T14478 |
T14474 |
parataxis |
Fluor,antibody |
| R4274 |
T14479 |
T14478 |
dep |
1,Fluor |
| R4275 |
T14480 |
T14481 |
punct |
:,"2,000" |
| R4276 |
T14481 |
T14479 |
prep |
"2,000",1 |
| R4277 |
T14482 |
T14478 |
punct |
;,Fluor |
| R4278 |
T14483 |
T14478 |
compound |
Alexa,Fluor |
| R4279 |
T14484 |
T14478 |
nummod |
555,Fluor |
| R4280 |
T14485 |
T14478 |
punct |
),Fluor |
| R4281 |
T14486 |
T14468 |
punct |
;,Immunohistochemistry |
| R4282 |
T14487 |
T14488 |
punct |
(,D |
| R4283 |
T14488 |
T14489 |
meta |
D,immunohistochemistry |
| R4284 |
T14489 |
T14468 |
appos |
immunohistochemistry,Immunohistochemistry |
| R4285 |
T14490 |
T14488 |
punct |
–,D |
| R4286 |
T14491 |
T14488 |
dep |
F,D |
| R4287 |
T14492 |
T14488 |
punct |
),D |
| R4288 |
T14493 |
T14489 |
acl |
using,immunohistochemistry |
| R4289 |
T14494 |
T14495 |
amod |
monoclonal,antibody |
| R4290 |
T14495 |
T14493 |
dobj |
antibody,using |
| R4291 |
T14496 |
T14495 |
nmod |
Calb1,antibody |
| R4292 |
T14497 |
T14495 |
amod |
anti-mouse,antibody |
| R4293 |
T14498 |
T14499 |
punct |
(,Fluor |
| R4294 |
T14499 |
T14495 |
parataxis |
Fluor,antibody |
| R4295 |
T14500 |
T14499 |
dep |
1,Fluor |
| R4296 |
T14501 |
T14502 |
punct |
:,"6,000" |
| R4297 |
T14502 |
T14500 |
prep |
"6,000",1 |
| R4298 |
T14503 |
T14499 |
punct |
;,Fluor |
| R4299 |
T14504 |
T14499 |
compound |
Alexa,Fluor |
| R4300 |
T14505 |
T14499 |
nummod |
488,Fluor |
| R4301 |
T14506 |
T14499 |
punct |
),Fluor |
| R4302 |
T14507 |
T14468 |
punct |
.,Immunohistochemistry |
| R4303 |
T14509 |
T14510 |
compound |
Scale,bars |
| R4304 |
T14510 |
T14511 |
nsubj |
bars,denote |
| R4305 |
T14512 |
T14513 |
nummod |
100,μm |
| R4306 |
T14513 |
T14511 |
dobj |
μm,denote |
| R4307 |
T14514 |
T14511 |
punct |
.,denote |
| R4308 |
T14516 |
T14517 |
mark |
As,described |
| R4309 |
T14517 |
T14519 |
advcl |
described,expressed |
| R4310 |
T14518 |
T14517 |
advmod |
previously,described |
| R4311 |
T14520 |
T14519 |
punct |
", ",expressed |
| R4312 |
T14521 |
T14519 |
nsubjpass |
Iptr1,expressed |
| R4313 |
T14522 |
T14519 |
auxpass |
is,expressed |
| R4314 |
T14523 |
T14519 |
advmod |
highly,expressed |
| R4315 |
T14524 |
T14519 |
prep |
in,expressed |
| R4316 |
T14525 |
T14526 |
det |
the,cells |
| R4317 |
T14526 |
T14524 |
pobj |
cells,in |
| R4318 |
T14527 |
T14526 |
compound |
Purkinje,cells |
| R4319 |
T14528 |
T14519 |
punct |
.,expressed |
| R4320 |
T14530 |
T14531 |
advmod |
Notably,appears |
| R4321 |
T14532 |
T14531 |
punct |
", ",appears |
| R4322 |
T14533 |
T14531 |
expl |
there,appears |
| R4323 |
T14534 |
T14535 |
aux |
to,be |
| R4324 |
T14535 |
T14531 |
xcomp |
be,appears |
| R4325 |
T14536 |
T14537 |
amod |
decreased,immunoreactivity |
| R4326 |
T14537 |
T14535 |
attr |
immunoreactivity,be |
| R4327 |
T14538 |
T14537 |
prep |
to,immunoreactivity |
| R4328 |
T14539 |
T14538 |
pobj |
Itpr1,to |
| R4329 |
T14540 |
T14535 |
prep |
in,be |
| R4330 |
T14541 |
T14542 |
det |
the,mice |
| R4331 |
T14542 |
T14540 |
pobj |
mice,in |
| R4332 |
T14543 |
T14542 |
amod |
heterozygous,mice |
| R4333 |
T14544 |
T14543 |
cc |
and,heterozygous |
| R4334 |
T14545 |
T14543 |
conj |
homozygous,heterozygous |
| R4335 |
T14546 |
T14542 |
compound |
mutant,mice |
| R4336 |
T14547 |
T14531 |
punct |
.,appears |
| R4337 |
T14549 |
T14550 |
punct |
(,G |
| R4338 |
T14550 |
T14551 |
meta |
G,shows |
| R4339 |
T14552 |
T14550 |
punct |
),G |
| R4340 |
T14553 |
T14554 |
compound |
Western,blot |
| R4341 |
T14554 |
T14551 |
dep |
blot,shows |
| R4342 |
T14555 |
T14554 |
acl |
performed,blot |
| R4343 |
T14556 |
T14557 |
aux |
to,examine |
| R4344 |
T14557 |
T14555 |
advcl |
examine,performed |
| R4345 |
T14558 |
T14559 |
compound |
Itpr1,levels |
| R4346 |
T14559 |
T14557 |
dobj |
levels,examine |
| R4347 |
T14560 |
T14557 |
prep |
in,examine |
| R4348 |
T14561 |
T14562 |
amod |
whole,brain |
| R4349 |
T14562 |
T14560 |
pobj |
brain,in |
| R4350 |
T14563 |
T14562 |
prep |
from,brain |
| R4351 |
T14564 |
T14565 |
amod |
wild,type |
| R4352 |
T14565 |
T14567 |
nmod |
type,mice |
| R4353 |
T14566 |
T14565 |
punct |
-,type |
| R4354 |
T14567 |
T14563 |
pobj |
mice,from |
| R4355 |
T14568 |
T14565 |
punct |
", ",type |
| R4356 |
T14569 |
T14570 |
compound |
Itpr1wt,Δ18 |
| R4357 |
T14570 |
T14565 |
conj |
Δ18,type |
| R4358 |
T14571 |
T14570 |
punct |
/,Δ18 |
| R4359 |
T14572 |
T14570 |
punct |
", ",Δ18 |
| R4360 |
T14573 |
T14570 |
cc |
and,Δ18 |
| R4361 |
T14574 |
T14575 |
compound |
Itpr1Δ18,Δ18 |
| R4362 |
T14575 |
T14570 |
conj |
Δ18,Δ18 |
| R4363 |
T14576 |
T14575 |
punct |
/,Δ18 |
| R4364 |
T14577 |
T14551 |
punct |
;,shows |
| R4365 |
T14578 |
T14551 |
nsubj |
this,shows |
| R4366 |
T14579 |
T14551 |
advmod |
clearly,shows |
| R4367 |
T14580 |
T14581 |
det |
a,reduction |
| R4368 |
T14581 |
T14551 |
dobj |
reduction,shows |
| R4369 |
T14582 |
T14581 |
prep |
of,reduction |
| R4370 |
T14583 |
T14582 |
pobj |
Itpr1,of |
| R4371 |
T14584 |
T14581 |
prep |
in,reduction |
| R4372 |
T14585 |
T14586 |
compound |
brain,tissue |
| R4373 |
T14586 |
T14584 |
pobj |
tissue,in |
| R4374 |
T14587 |
T14586 |
prep |
from,tissue |
| R4375 |
T14588 |
T14589 |
compound |
Itpr1wt,Δ18 |
| R4376 |
T14589 |
T14591 |
compound |
Δ18,mice |
| R4377 |
T14590 |
T14589 |
punct |
/,Δ18 |
| R4378 |
T14591 |
T14587 |
pobj |
mice,from |
| R4379 |
T14592 |
T14581 |
cc |
and,reduction |
| R4380 |
T14593 |
T14594 |
det |
a,reduction |
| R4381 |
T14594 |
T14581 |
conj |
reduction,reduction |
| R4382 |
T14595 |
T14594 |
amod |
greater,reduction |
| R4383 |
T14596 |
T14594 |
prep |
of,reduction |
| R4384 |
T14597 |
T14596 |
pobj |
Itpr1,of |
| R4385 |
T14598 |
T14594 |
prep |
in,reduction |
| R4386 |
T14599 |
T14600 |
compound |
Itpr1Δ18,Δ18 |
| R4387 |
T14600 |
T14602 |
compound |
Δ18,mice |
| R4388 |
T14601 |
T14600 |
punct |
/,Δ18 |
| R4389 |
T14602 |
T14598 |
pobj |
mice,in |
| R4390 |
T14603 |
T14551 |
punct |
.,shows |
| R4391 |
T15070 |
T15069 |
acl |
Derived,Metrics |
| R4392 |
T15071 |
T15070 |
prep |
from,Derived |
| R4393 |
T15072 |
T15071 |
pobj |
Analysis,from |
| R4394 |
T15073 |
T15072 |
prep |
of,Analysis |
| R4395 |
T15074 |
T15073 |
pobj |
DNA,of |
| R4396 |
T15075 |
T15074 |
prep |
from,DNA |
| R4397 |
T15076 |
T15077 |
amod |
Affected,Member |
| R4398 |
T15077 |
T15075 |
pobj |
Member,from |
| R4399 |
T15078 |
T15077 |
compound |
Family,Member |
| R4400 |
T15079 |
T15077 |
nummod |
7,Member |
| R4401 |
T15080 |
T15070 |
advcl |
Using,Derived |
| R4402 |
T15081 |
T15082 |
compound |
Illumina,HumanHap550 |
| R4403 |
T15082 |
T15084 |
compound |
HumanHap550,Chips |
| R4404 |
T15083 |
T15082 |
compound |
Infinium,HumanHap550 |
| R4405 |
T15084 |
T15080 |
dobj |
Chips,Using |
| R4406 |
T15085 |
T15084 |
compound |
Genotyping,Chips |
| R4407 |
T15087 |
T15088 |
det |
The,plots |
| R4408 |
T15088 |
T15092 |
nsubj |
plots,are |
| R4409 |
T15089 |
T15088 |
amod |
upper,plots |
| R4410 |
T15090 |
T15089 |
cc |
and,upper |
| R4411 |
T15091 |
T15089 |
conj |
lower,upper |
| R4412 |
T15093 |
T15094 |
compound |
log,R |
| R4413 |
T15094 |
T15095 |
compound |
R,ratio |
| R4414 |
T15095 |
T15092 |
attr |
ratio,are |
| R4415 |
T15096 |
T15095 |
cc |
and,ratio |
| R4416 |
T15097 |
T15098 |
compound |
B,allele |
| R4417 |
T15098 |
T15099 |
compound |
allele,frequency |
| R4418 |
T15099 |
T15095 |
conj |
frequency,ratio |
| R4419 |
T15100 |
T15092 |
punct |
", ",are |
| R4420 |
T15101 |
T15092 |
advmod |
respectively,are |
| R4421 |
T15102 |
T15092 |
punct |
", ",are |
| R4422 |
T15103 |
T15092 |
prep |
at,are |
| R4423 |
T15104 |
T15105 |
det |
an,segment |
| R4424 |
T15105 |
T15103 |
pobj |
segment,at |
| R4425 |
T15106 |
T15107 |
punct |
~,800 |
| R4426 |
T15107 |
T15108 |
nummod |
800,kb |
| R4427 |
T15108 |
T15105 |
compound |
kb,segment |
| R4428 |
T15109 |
T15108 |
punct |
-,kb |
| R4429 |
T15110 |
T15105 |
prep |
on,segment |
| R4430 |
T15111 |
T15112 |
det |
the,arm |
| R4431 |
T15112 |
T15110 |
pobj |
arm,on |
| R4432 |
T15113 |
T15112 |
compound |
p,arm |
| R4433 |
T15114 |
T15112 |
prep |
of,arm |
| R4434 |
T15115 |
T15114 |
pobj |
Chromosome,of |
| R4435 |
T15116 |
T15115 |
nummod |
3,Chromosome |
| R4436 |
T15117 |
T15092 |
punct |
.,are |
| R4437 |
T15119 |
T15120 |
compound |
Log,R |
| R4438 |
T15120 |
T15121 |
compound |
R,ratio |
| R4439 |
T15121 |
T15122 |
nsubj |
ratio,is |
| R4440 |
T15123 |
T15124 |
det |
the,ratio |
| R4441 |
T15124 |
T15122 |
attr |
ratio,is |
| R4442 |
T15125 |
T15124 |
prep |
of,ratio |
| R4443 |
T15126 |
T15127 |
amod |
normalized,R |
| R4444 |
T15127 |
T15125 |
pobj |
R,of |
| R4445 |
T15128 |
T15127 |
punct |
", ",R |
| R4446 |
T15129 |
T15127 |
amod |
observed,R |
| R4447 |
T15130 |
T15124 |
prep |
to,ratio |
| R4448 |
T15131 |
T15132 |
amod |
expected,R |
| R4449 |
T15132 |
T15130 |
pobj |
R,to |
| R4450 |
T15133 |
T15124 |
prep |
for,ratio |
| R4451 |
T15134 |
T15135 |
det |
each,SNP |
| R4452 |
T15135 |
T15133 |
pobj |
SNP,for |
| R4453 |
T15136 |
T15137 |
punct |
(,is |
| R4454 |
T15137 |
T15124 |
parataxis |
is,ratio |
| R4455 |
T15138 |
T15139 |
det |
each,SNP |
| R4456 |
T15139 |
T15137 |
nsubj |
SNP,is |
| R4457 |
T15140 |
T15141 |
det |
a,dot |
| R4458 |
T15141 |
T15137 |
attr |
dot,is |
| R4459 |
T15142 |
T15141 |
amod |
blue,dot |
| R4460 |
T15143 |
T15137 |
punct |
),is |
| R4461 |
T15144 |
T15122 |
cc |
and,is |
| R4462 |
T15145 |
T15146 |
advmod |
thus,serves |
| R4463 |
T15146 |
T15122 |
conj |
serves,is |
| R4464 |
T15147 |
T15146 |
prep |
as,serves |
| R4465 |
T15148 |
T15149 |
det |
a,surrogate |
| R4466 |
T15149 |
T15147 |
pobj |
surrogate,as |
| R4467 |
T15150 |
T15149 |
prep |
of,surrogate |
| R4468 |
T15151 |
T15152 |
compound |
copy,number |
| R4469 |
T15152 |
T15150 |
pobj |
number,of |
| R4470 |
T15153 |
T15146 |
prep |
at,serves |
| R4471 |
T15154 |
T15155 |
det |
each,locus |
| R4472 |
T15155 |
T15153 |
pobj |
locus,at |
| R4473 |
T15156 |
T15122 |
punct |
.,is |
| R4474 |
T15158 |
T15159 |
compound |
B,allele |
| R4475 |
T15159 |
T15160 |
compound |
allele,frequency |
| R4476 |
T15160 |
T15161 |
nsubj |
frequency,is |
| R4477 |
T15162 |
T15163 |
det |
a,measure |
| R4478 |
T15163 |
T15161 |
attr |
measure,is |
| R4479 |
T15164 |
T15163 |
prep |
of,measure |
| R4480 |
T15165 |
T15166 |
det |
the,number |
| R4481 |
T15166 |
T15164 |
pobj |
number,of |
| R4482 |
T15167 |
T15166 |
prep |
of,number |
| R4483 |
T15168 |
T15167 |
pobj |
times,of |
| R4484 |
T15169 |
T15170 |
det |
the,alleles |
| R4485 |
T15170 |
T15174 |
nsubjpass |
alleles,detected |
| R4486 |
T15171 |
T15170 |
nmod |
A,alleles |
| R4487 |
T15172 |
T15171 |
cc |
or,A |
| R4488 |
T15173 |
T15171 |
conj |
B,A |
| R4489 |
T15174 |
T15168 |
advcl |
detected,times |
| R4490 |
T15175 |
T15174 |
auxpass |
are,detected |
| R4491 |
T15176 |
T15174 |
prep |
at,detected |
| R4492 |
T15177 |
T15178 |
det |
each,locus |
| R4493 |
T15178 |
T15176 |
pobj |
locus,at |
| R4494 |
T15179 |
T15180 |
punct |
(,denoted |
| R4495 |
T15180 |
T15161 |
parataxis |
denoted,is |
| R4496 |
T15181 |
T15182 |
det |
each,SNP |
| R4497 |
T15182 |
T15180 |
nsubjpass |
SNP,denoted |
| R4498 |
T15183 |
T15180 |
auxpass |
is,denoted |
| R4499 |
T15184 |
T15180 |
agent |
by,denoted |
| R4500 |
T15185 |
T15186 |
det |
a,dot |
| R4501 |
T15186 |
T15184 |
pobj |
dot,by |
| R4502 |
T15187 |
T15186 |
amod |
blue,dot |
| R4503 |
T15188 |
T15180 |
punct |
),denoted |
| R4504 |
T15189 |
T15161 |
punct |
.,is |
| R4505 |
T15191 |
T15192 |
advmod |
Thus,are |
| R4506 |
T15193 |
T15192 |
punct |
", ",are |
| R4507 |
T15194 |
T15195 |
nsubj |
SNPs,are |
| R4508 |
T15195 |
T15192 |
ccomp |
are,are |
| R4509 |
T15196 |
T15194 |
prep |
with,SNPs |
| R4510 |
T15197 |
T15198 |
det |
a,frequency |
| R4511 |
T15198 |
T15196 |
pobj |
frequency,with |
| R4512 |
T15199 |
T15200 |
compound |
B,allele |
| R4513 |
T15200 |
T15198 |
compound |
allele,frequency |
| R4514 |
T15201 |
T15198 |
prep |
of,frequency |
| R4515 |
T15202 |
T15201 |
pobj |
one,of |
| R4516 |
T15203 |
T15204 |
amod |
apparent,homozygotes |
| R4517 |
T15204 |
T15195 |
attr |
homozygotes,are |
| R4518 |
T15205 |
T15206 |
compound |
B,B |
| R4519 |
T15206 |
T15204 |
compound |
B,homozygotes |
| R4520 |
T15207 |
T15206 |
punct |
/,B |
| R4521 |
T15208 |
T15192 |
punct |
", ",are |
| R4522 |
T15209 |
T15192 |
nsubj |
SNPs,are |
| R4523 |
T15210 |
T15209 |
prep |
with,SNPs |
| R4524 |
T15211 |
T15212 |
det |
a,frequency |
| R4525 |
T15212 |
T15210 |
pobj |
frequency,with |
| R4526 |
T15213 |
T15214 |
compound |
B,allele |
| R4527 |
T15214 |
T15212 |
compound |
allele,frequency |
| R4528 |
T15215 |
T15212 |
prep |
of,frequency |
| R4529 |
T15216 |
T15215 |
pobj |
0.5,of |
| R4530 |
T15217 |
T15218 |
amod |
apparent,heterozygotes |
| R4531 |
T15218 |
T15192 |
attr |
heterozygotes,are |
| R4532 |
T15219 |
T15220 |
compound |
A,B |
| R4533 |
T15220 |
T15218 |
compound |
B,heterozygotes |
| R4534 |
T15221 |
T15220 |
punct |
/,B |
| R4535 |
T15222 |
T15192 |
punct |
", ",are |
| R4536 |
T15223 |
T15192 |
cc |
and,are |
| R4537 |
T15224 |
T15225 |
nsubj |
those,are |
| R4538 |
T15225 |
T15192 |
conj |
are,are |
| R4539 |
T15226 |
T15224 |
prep |
with,those |
| R4540 |
T15227 |
T15228 |
det |
a,frequency |
| R4541 |
T15228 |
T15226 |
pobj |
frequency,with |
| R4542 |
T15229 |
T15230 |
compound |
B,allele |
| R4543 |
T15230 |
T15228 |
compound |
allele,frequency |
| R4544 |
T15231 |
T15228 |
prep |
of,frequency |
| R4545 |
T15232 |
T15231 |
pobj |
zero,of |
| R4546 |
T15233 |
T15234 |
amod |
apparent,homozygotes |
| R4547 |
T15234 |
T15225 |
attr |
homozygotes,are |
| R4548 |
T15235 |
T15236 |
compound |
A,A |
| R4549 |
T15236 |
T15234 |
compound |
A,homozygotes |
| R4550 |
T15237 |
T15236 |
punct |
/,A |
| R4551 |
T15238 |
T15225 |
punct |
.,are |
| R4552 |
T15240 |
T15241 |
advmod |
Clearly,show |
| R4553 |
T15242 |
T15241 |
punct |
", ",show |
| R4554 |
T15243 |
T15244 |
det |
these,plots |
| R4555 |
T15244 |
T15241 |
nsubj |
plots,show |
| R4556 |
T15245 |
T15246 |
det |
a,region |
| R4557 |
T15246 |
T15241 |
dobj |
region,show |
| R4558 |
T15247 |
T15246 |
amod |
contiguous,region |
| R4559 |
T15248 |
T15249 |
punct |
~,200 |
| R4560 |
T15249 |
T15250 |
nummod |
200,kb |
| R4561 |
T15250 |
T15251 |
npadvmod |
kb,long |
| R4562 |
T15251 |
T15246 |
amod |
long,region |
| R4563 |
T15252 |
T15246 |
prep |
with,region |
| R4564 |
T15253 |
T15254 |
amod |
decreased,number |
| R4565 |
T15254 |
T15252 |
pobj |
number,with |
| R4566 |
T15255 |
T15254 |
compound |
copy,number |
| R4567 |
T15256 |
T15254 |
cc |
and,number |
| R4568 |
T15257 |
T15258 |
amod |
apparent,homozygosity |
| R4569 |
T15258 |
T15254 |
conj |
homozygosity,number |
| R4570 |
T15259 |
T15246 |
punct |
(,region |
| R4571 |
T15260 |
T15246 |
acl |
bounded,region |
| R4572 |
T15261 |
T15260 |
agent |
by,bounded |
| R4573 |
T15262 |
T15263 |
det |
a,box |
| R4574 |
T15263 |
T15261 |
pobj |
box,by |
| R4575 |
T15264 |
T15263 |
amod |
red,box |
| R4576 |
T15265 |
T15241 |
punct |
),show |
| R4577 |
T15266 |
T15241 |
punct |
.,show |
| R4578 |
T15268 |
T15269 |
mark |
As,demonstrated |
| R4579 |
T15269 |
T15272 |
advcl |
demonstrated,is |
| R4580 |
T15270 |
T15269 |
nsubj |
we,demonstrated |
| R4581 |
T15271 |
T15269 |
aux |
have,demonstrated |
| R4582 |
T15273 |
T15269 |
advmod |
previously,demonstrated |
| R4583 |
T15274 |
T15272 |
punct |
", ",is |
| R4584 |
T15275 |
T15272 |
nsubj |
this,is |
| R4585 |
T15276 |
T15272 |
acomp |
indicative,is |
| R4586 |
T15277 |
T15276 |
prep |
of,indicative |
| R4587 |
T15278 |
T15279 |
det |
a,deletion |
| R4588 |
T15279 |
T15277 |
pobj |
deletion,of |
| R4589 |
T15280 |
T15279 |
amod |
heterozygous,deletion |
| R4590 |
T15281 |
T15279 |
amod |
genomic,deletion |
| R4591 |
T15282 |
T15283 |
punct |
[,15 |
| R4592 |
T15283 |
T15272 |
parataxis |
15,is |
| R4593 |
T15284 |
T15283 |
punct |
],15 |
| R4594 |
T15285 |
T15272 |
punct |
.,is |
| R4595 |
T15287 |
T15288 |
prep |
Below,is |
| R4596 |
T15289 |
T15290 |
det |
these,plots |
| R4597 |
T15290 |
T15287 |
pobj |
plots,Below |
| R4598 |
T15291 |
T15292 |
det |
a,schematic |
| R4599 |
T15292 |
T15288 |
nsubj |
schematic,is |
| R4600 |
T15293 |
T15292 |
prep |
of,schematic |
| R4601 |
T15294 |
T15295 |
det |
the,genes |
| R4602 |
T15295 |
T15293 |
pobj |
genes,of |
| R4603 |
T15296 |
T15295 |
nummod |
two,genes |
| R4604 |
T15297 |
T15295 |
amod |
known,genes |
| R4605 |
T15298 |
T15295 |
acl |
affected,genes |
| R4606 |
T15299 |
T15298 |
agent |
by,affected |
| R4607 |
T15300 |
T15301 |
det |
this,deletion |
| R4608 |
T15301 |
T15299 |
pobj |
deletion,by |
| R4609 |
T15302 |
T15295 |
punct |
", ",genes |
| R4610 |
T15303 |
T15295 |
appos |
ITPR1,genes |
| R4611 |
T15304 |
T15303 |
cc |
and,ITPR1 |
| R4612 |
T15305 |
T15303 |
conj |
SUMF1,ITPR1 |
| R4613 |
T15306 |
T15288 |
punct |
.,is |
| R4614 |
T15781 |
T15782 |
compound |
Mutation,Analysis |
| R4615 |
T15783 |
T15782 |
prep |
in,Analysis |
| R4616 |
T15784 |
T15785 |
det |
the,Family |
| R4617 |
T15785 |
T15783 |
pobj |
Family,in |
| R4618 |
T15786 |
T15785 |
amod |
Australian,Family |
| R4619 |
T15787 |
T15785 |
compound |
SCA15,Family |
| R4620 |
T15789 |
T15790 |
punct |
(,Top |
| R4621 |
T15790 |
T15791 |
parataxis |
Top,Pedigree |
| R4622 |
T15792 |
T15790 |
punct |
),Top |
| R4623 |
T15793 |
T15791 |
prep |
of,Pedigree |
| R4624 |
T15794 |
T15793 |
pobj |
kindred,of |
| R4625 |
T15795 |
T15791 |
punct |
.,Pedigree |
| R4626 |
T15797 |
T15798 |
amod |
Filled,symbols |
| R4627 |
T15798 |
T15799 |
nsubj |
symbols,denote |
| R4628 |
T15799 |
T15800 |
ccomp |
denote,denotes |
| R4629 |
T15801 |
T15802 |
amod |
affected,individuals |
| R4630 |
T15802 |
T15799 |
dobj |
individuals,denote |
| R4631 |
T15803 |
T15800 |
punct |
;,denotes |
| R4632 |
T15804 |
T15805 |
amod |
open,symbols |
| R4633 |
T15805 |
T15806 |
nsubj |
symbols,individuals |
| R4634 |
T15806 |
T15800 |
ccomp |
individuals,denotes |
| R4635 |
T15807 |
T15806 |
punct |
", ",individuals |
| R4636 |
T15808 |
T15806 |
amod |
unaffected,individuals |
| R4637 |
T15809 |
T15800 |
punct |
;,denotes |
| R4638 |
T15810 |
T15811 |
amod |
grey,symbol |
| R4639 |
T15811 |
T15812 |
nsubj |
symbol,denotes |
| R4640 |
T15812 |
T15800 |
ccomp |
denotes,denotes |
| R4641 |
T15813 |
T15814 |
amod |
unknown,status |
| R4642 |
T15814 |
T15812 |
dobj |
status,denotes |
| R4643 |
T15815 |
T15814 |
compound |
disease,status |
| R4644 |
T15816 |
T15800 |
punct |
;,denotes |
| R4645 |
T15817 |
T15818 |
compound |
bulls,eye |
| R4646 |
T15818 |
T15820 |
compound |
eye,symbol |
| R4647 |
T15819 |
T15818 |
punct |
-,eye |
| R4648 |
T15820 |
T15800 |
nsubj |
symbol,denotes |
| R4649 |
T15821 |
T15822 |
amod |
obligate,carrier |
| R4650 |
T15822 |
T15800 |
dobj |
carrier,denotes |
| R4651 |
T15823 |
T15800 |
punct |
.,denotes |
| R4652 |
T15825 |
T15826 |
compound |
w,w |
| R4653 |
T15827 |
T15826 |
punct |
/,w |
| R4654 |
T15828 |
T15826 |
punct |
", ",w |
| R4655 |
T15829 |
T15830 |
amod |
wild,type |
| R4656 |
T15830 |
T15826 |
appos |
type,w |
| R4657 |
T15831 |
T15830 |
punct |
-,type |
| R4658 |
T15832 |
T15830 |
prep |
at,type |
| R4659 |
T15833 |
T15832 |
pobj |
ITPR1,at |
| R4660 |
T15834 |
T15826 |
punct |
;,w |
| R4661 |
T15835 |
T15836 |
compound |
w,m |
| R4662 |
T15836 |
T15826 |
appos |
m,w |
| R4663 |
T15837 |
T15836 |
punct |
/,m |
| R4664 |
T15838 |
T15836 |
punct |
", ",m |
| R4665 |
T15839 |
T15840 |
amod |
heterozygous,carrier |
| R4666 |
T15840 |
T15836 |
appos |
carrier,m |
| R4667 |
T15841 |
T15840 |
prep |
of,carrier |
| R4668 |
T15842 |
T15843 |
det |
the,deletion |
| R4669 |
T15843 |
T15841 |
pobj |
deletion,of |
| R4670 |
T15844 |
T15843 |
compound |
ITPR1,deletion |
| R4671 |
T15845 |
T15826 |
punct |
.,w |
| R4672 |
T15847 |
T15848 |
punct |
(,Middle |
| R4673 |
T15848 |
T15849 |
parataxis |
Middle,Schematic |
| R4674 |
T15850 |
T15848 |
punct |
),Middle |
| R4675 |
T15851 |
T15849 |
prep |
of,Schematic |
| R4676 |
T15852 |
T15853 |
compound |
primer,pairs |
| R4677 |
T15853 |
T15851 |
pobj |
pairs,of |
| R4678 |
T15854 |
T15853 |
acl |
used,pairs |
| R4679 |
T15855 |
T15856 |
aux |
to,narrow |
| R4680 |
T15856 |
T15854 |
advcl |
narrow,used |
| R4681 |
T15857 |
T15858 |
det |
the,regions |
| R4682 |
T15858 |
T15856 |
dobj |
regions,narrow |
| R4683 |
T15859 |
T15858 |
amod |
unknown,regions |
| R4684 |
T15860 |
T15858 |
prep |
between,regions |
| R4685 |
T15861 |
T15862 |
amod |
known,sequence |
| R4686 |
T15862 |
T15860 |
pobj |
sequence,between |
| R4687 |
T15863 |
T15862 |
amod |
deleted,sequence |
| R4688 |
T15864 |
T15862 |
cc |
and,sequence |
| R4689 |
T15865 |
T15866 |
amod |
known,sequence |
| R4690 |
T15866 |
T15862 |
conj |
sequence,sequence |
| R4691 |
T15867 |
T15866 |
amod |
diploid,sequence |
| R4692 |
T15868 |
T15856 |
prep |
at,narrow |
| R4693 |
T15869 |
T15870 |
det |
the,locus |
| R4694 |
T15870 |
T15868 |
pobj |
locus,at |
| R4695 |
T15871 |
T15870 |
compound |
SCA15,locus |
| R4696 |
T15872 |
T15849 |
punct |
.,Schematic |
| R4697 |
T15874 |
T15875 |
nummod |
Nine,pairs |
| R4698 |
T15875 |
T15877 |
nsubjpass |
pairs,used |
| R4699 |
T15876 |
T15875 |
compound |
primer,pairs |
| R4700 |
T15877 |
T15884 |
ccomp |
used,used |
| R4701 |
T15878 |
T15879 |
punct |
(,T1 |
| R4702 |
T15879 |
T15875 |
parataxis |
T1,pairs |
| R4703 |
T15880 |
T15881 |
punct |
–,T9 |
| R4704 |
T15881 |
T15879 |
prep |
T9,T1 |
| R4705 |
T15882 |
T15879 |
punct |
),T1 |
| R4706 |
T15883 |
T15877 |
auxpass |
were,used |
| R4707 |
T15885 |
T15886 |
aux |
to,amplify |
| R4708 |
T15886 |
T15877 |
advcl |
amplify,used |
| R4709 |
T15887 |
T15886 |
prep |
across,amplify |
| R4710 |
T15888 |
T15889 |
det |
the,region |
| R4711 |
T15889 |
T15887 |
pobj |
region,across |
| R4712 |
T15890 |
T15889 |
amod |
unknown,region |
| R4713 |
T15891 |
T15889 |
amod |
telomeric,region |
| R4714 |
T15892 |
T15891 |
prep |
to,telomeric |
| R4715 |
T15893 |
T15894 |
det |
the,region |
| R4716 |
T15894 |
T15892 |
pobj |
region,to |
| R4717 |
T15895 |
T15894 |
amod |
known,region |
| R4718 |
T15896 |
T15894 |
amod |
deleted,region |
| R4719 |
T15897 |
T15884 |
punct |
;,used |
| R4720 |
T15898 |
T15899 |
nummod |
19,pairs |
| R4721 |
T15899 |
T15884 |
nsubjpass |
pairs,used |
| R4722 |
T15900 |
T15899 |
compound |
primer,pairs |
| R4723 |
T15901 |
T15902 |
punct |
(,C1 |
| R4724 |
T15902 |
T15899 |
parataxis |
C1,pairs |
| R4725 |
T15903 |
T15904 |
punct |
–,C19 |
| R4726 |
T15904 |
T15902 |
prep |
C19,C1 |
| R4727 |
T15905 |
T15902 |
punct |
),C1 |
| R4728 |
T15906 |
T15884 |
auxpass |
were,used |
| R4729 |
T15907 |
T15908 |
aux |
to,amplify |
| R4730 |
T15908 |
T15884 |
advcl |
amplify,used |
| R4731 |
T15909 |
T15908 |
prep |
across,amplify |
| R4732 |
T15910 |
T15911 |
det |
the,region |
| R4733 |
T15911 |
T15909 |
pobj |
region,across |
| R4734 |
T15912 |
T15911 |
amod |
unknown,region |
| R4735 |
T15913 |
T15911 |
amod |
centromeric,region |
| R4736 |
T15914 |
T15908 |
prep |
to,amplify |
| R4737 |
T15915 |
T15916 |
det |
the,region |
| R4738 |
T15916 |
T15914 |
pobj |
region,to |
| R4739 |
T15917 |
T15916 |
amod |
known,region |
| R4740 |
T15918 |
T15916 |
amod |
deleted,region |
| R4741 |
T15919 |
T15884 |
punct |
.,used |
| R4742 |
T15921 |
T15922 |
det |
All,PCRs |
| R4743 |
T15922 |
T15923 |
nsubjpass |
PCRs,carried |
| R4744 |
T15924 |
T15923 |
auxpass |
were,carried |
| R4745 |
T15925 |
T15923 |
prt |
out,carried |
| R4746 |
T15926 |
T15923 |
prep |
in,carried |
| R4747 |
T15927 |
T15928 |
det |
the,members |
| R4748 |
T15928 |
T15926 |
pobj |
members,in |
| R4749 |
T15929 |
T15928 |
nummod |
three,members |
| R4750 |
T15930 |
T15928 |
amod |
affected,members |
| R4751 |
T15931 |
T15928 |
compound |
family,members |
| R4752 |
T15932 |
T15923 |
punct |
.,carried |
| R4753 |
T15934 |
T15935 |
nsubj |
Analysis,narrowed |
| R4754 |
T15936 |
T15934 |
prep |
of,Analysis |
| R4755 |
T15937 |
T15938 |
det |
these,data |
| R4756 |
T15938 |
T15936 |
pobj |
data,of |
| R4757 |
T15939 |
T15940 |
det |
the,region |
| R4758 |
T15940 |
T15935 |
dobj |
region,narrowed |
| R4759 |
T15941 |
T15940 |
amod |
unknown,region |
| R4760 |
T15942 |
T15935 |
punct |
", ",narrowed |
| R4761 |
T15943 |
T15935 |
cc |
and,narrowed |
| R4762 |
T15944 |
T15945 |
advmod |
ultimately,were |
| R4763 |
T15945 |
T15935 |
conj |
were,narrowed |
| R4764 |
T15946 |
T15945 |
nsubj |
we,were |
| R4765 |
T15947 |
T15945 |
acomp |
able,were |
| R4766 |
T15948 |
T15949 |
aux |
to,use |
| R4767 |
T15949 |
T15947 |
xcomp |
use,able |
| R4768 |
T15950 |
T15949 |
dobj |
primer,use |
| R4769 |
T15951 |
T15950 |
appos |
T3f,primer |
| R4770 |
T15952 |
T15951 |
cc |
and,T3f |
| R4771 |
T15953 |
T15951 |
conj |
C11r,T3f |
| R4772 |
T15954 |
T15955 |
aux |
to,amplify |
| R4773 |
T15955 |
T15949 |
advcl |
amplify,use |
| R4774 |
T15956 |
T15955 |
prep |
across,amplify |
| R4775 |
T15957 |
T15958 |
det |
the,breakpoint |
| R4776 |
T15958 |
T15956 |
pobj |
breakpoint,across |
| R4777 |
T15959 |
T15958 |
compound |
deletion,breakpoint |
| R4778 |
T15960 |
T15955 |
prep |
in,amplify |
| R4779 |
T15961 |
T15962 |
det |
the,members |
| R4780 |
T15962 |
T15960 |
pobj |
members,in |
| R4781 |
T15963 |
T15962 |
nummod |
three,members |
| R4782 |
T15964 |
T15962 |
amod |
affected,members |
| R4783 |
T15965 |
T15962 |
compound |
family,members |
| R4784 |
T15966 |
T15955 |
punct |
", ",amplify |
| R4785 |
T15967 |
T15955 |
advcl |
producing,amplify |
| R4786 |
T15968 |
T15969 |
det |
a,fragment |
| R4787 |
T15969 |
T15967 |
dobj |
fragment,producing |
| R4788 |
T15970 |
T15969 |
prep |
of,fragment |
| R4789 |
T15971 |
T15972 |
nummod |
953,bp |
| R4790 |
T15972 |
T15970 |
pobj |
bp,of |
| R4791 |
T15973 |
T15967 |
prep |
in,producing |
| R4792 |
T15974 |
T15975 |
amod |
affected,individuals |
| R4793 |
T15975 |
T15973 |
pobj |
individuals,in |
| R4794 |
T15976 |
T15945 |
punct |
.,were |
| R4795 |
T15978 |
T15979 |
punct |
(,Bottom |
| R4796 |
T15979 |
T15980 |
parataxis |
Bottom,Gel |
| R4797 |
T15981 |
T15979 |
punct |
),Bottom |
| R4798 |
T15982 |
T15980 |
acl |
showing,Gel |
| R4799 |
T15983 |
T15984 |
compound |
amplification,product |
| R4800 |
T15984 |
T15982 |
dobj |
product,showing |
| R4801 |
T15985 |
T15984 |
acl |
using,product |
| R4802 |
T15986 |
T15987 |
compound |
primer,pair |
| R4803 |
T15987 |
T15985 |
dobj |
pair,using |
| R4804 |
T15988 |
T15987 |
appos |
T3f,pair |
| R4805 |
T15989 |
T15988 |
cc |
and,T3f |
| R4806 |
T15990 |
T15988 |
conj |
C11r,T3f |
| R4807 |
T15991 |
T15987 |
prep |
from,pair |
| R4808 |
T15992 |
T15993 |
amod |
affected,6 |
| R4809 |
T15993 |
T15991 |
pobj |
6,from |
| R4810 |
T15994 |
T15993 |
nmod |
pedigree,6 |
| R4811 |
T15995 |
T15993 |
nmod |
members,6 |
| R4812 |
T15996 |
T15993 |
punct |
", ",6 |
| R4813 |
T15997 |
T15993 |
conj |
7,6 |
| R4814 |
T15998 |
T15997 |
punct |
", ",7 |
| R4815 |
T15999 |
T15997 |
cc |
and,7 |
| R4816 |
T16000 |
T15997 |
conj |
19,7 |
| R4817 |
T16001 |
T15991 |
punct |
;,from |
| R4818 |
T16002 |
T15991 |
conj |
in,from |
| R4819 |
T16003 |
T16004 |
compound |
pedigree,member |
| R4820 |
T16004 |
T16002 |
pobj |
member,in |
| R4821 |
T16005 |
T16004 |
nummod |
23,member |
| R4822 |
T16006 |
T16004 |
punct |
", ",member |
| R4823 |
T16007 |
T16004 |
prep |
with,member |
| R4824 |
T16008 |
T16009 |
amod |
unknown,status |
| R4825 |
T16009 |
T16007 |
pobj |
status,with |
| R4826 |
T16010 |
T16011 |
compound |
disease,affection |
| R4827 |
T16011 |
T16009 |
compound |
affection,status |
| R4828 |
T16012 |
T16002 |
punct |
;,in |
| R4829 |
T16013 |
T16002 |
conj |
in,in |
| R4830 |
T16014 |
T16015 |
det |
a,control |
| R4831 |
T16015 |
T16013 |
pobj |
control,in |
| R4832 |
T16016 |
T16017 |
advmod |
neurologically,normal |
| R4833 |
T16017 |
T16015 |
amod |
normal,control |
| R4834 |
T16018 |
T16019 |
punct |
(,C |
| R4835 |
T16019 |
T16015 |
parataxis |
C,control |
| R4836 |
T16020 |
T16019 |
punct |
),C |
| R4837 |
T16021 |
T16013 |
punct |
;,in |
| R4838 |
T16022 |
T16013 |
cc |
and,in |
| R4839 |
T16023 |
T16013 |
conj |
in,in |
| R4840 |
T16024 |
T16025 |
det |
a,control |
| R4841 |
T16025 |
T16023 |
pobj |
control,in |
| R4842 |
T16026 |
T16027 |
det |
no,template |
| R4843 |
T16027 |
T16025 |
compound |
template,control |
| R4844 |
T16028 |
T16029 |
punct |
(,NC |
| R4845 |
T16029 |
T16025 |
parataxis |
NC,control |
| R4846 |
T16030 |
T16029 |
punct |
),NC |
| R4847 |
T16031 |
T15980 |
punct |
.,Gel |
| R4848 |
T16245 |
T16246 |
compound |
Western,Blot |
| R4849 |
T16246 |
T16247 |
compound |
Blot,Analysis |
| R4850 |
T16248 |
T16247 |
prep |
of,Analysis |
| R4851 |
T16249 |
T16250 |
compound |
ITPR1,Levels |
| R4852 |
T16250 |
T16248 |
pobj |
Levels,of |
| R4853 |
T16251 |
T16250 |
compound |
Protein,Levels |
| R4854 |
T16252 |
T16247 |
prep |
in,Analysis |
| R4855 |
T16253 |
T16254 |
nmod |
EBV,Lymphoblasts |
| R4856 |
T16254 |
T16252 |
pobj |
Lymphoblasts,in |
| R4857 |
T16255 |
T16254 |
amod |
Immortalized,Lymphoblasts |
| R4858 |
T16256 |
T16254 |
prep |
from,Lymphoblasts |
| R4859 |
T16257 |
T16258 |
compound |
AUS1,Members |
| R4860 |
T16258 |
T16256 |
pobj |
Members,from |
| R4861 |
T16259 |
T16258 |
compound |
Family,Members |
| R4862 |
T16261 |
T16262 |
compound |
Western,blot |
| R4863 |
T16263 |
T16262 |
acl |
performed,blot |
| R4864 |
T16264 |
T16265 |
aux |
to,examine |
| R4865 |
T16265 |
T16263 |
advcl |
examine,performed |
| R4866 |
T16266 |
T16267 |
compound |
ITPR1,levels |
| R4867 |
T16267 |
T16265 |
dobj |
levels,examine |
| R4868 |
T16268 |
T16267 |
prep |
in,levels |
| R4869 |
T16269 |
T16270 |
nmod |
EBV,lymphocytes |
| R4870 |
T16270 |
T16268 |
pobj |
lymphocytes,in |
| R4871 |
T16271 |
T16270 |
amod |
immortalized,lymphocytes |
| R4872 |
T16272 |
T16270 |
prep |
from,lymphocytes |
| R4873 |
T16273 |
T16274 |
npadvmod |
AUS1,affected |
| R4874 |
T16274 |
T16275 |
amod |
affected,members |
| R4875 |
T16275 |
T16272 |
pobj |
members,from |
| R4876 |
T16276 |
T16275 |
compound |
family,members |
| R4877 |
T16277 |
T16275 |
acl |
carrying,members |
| R4878 |
T16278 |
T16279 |
det |
the,deletion |
| R4879 |
T16279 |
T16277 |
dobj |
deletion,carrying |
| R4880 |
T16280 |
T16279 |
compound |
ITPR1,deletion |
| R4881 |
T16281 |
T16272 |
cc |
and,from |
| R4882 |
T16282 |
T16272 |
conj |
from,from |
| R4883 |
T16283 |
T16284 |
det |
an,member |
| R4884 |
T16284 |
T16282 |
pobj |
member,from |
| R4885 |
T16285 |
T16284 |
compound |
AUS1,member |
| R4886 |
T16286 |
T16284 |
compound |
family,member |
| R4887 |
T16287 |
T16284 |
prep |
of,member |
| R4888 |
T16288 |
T16289 |
amod |
unknown,status |
| R4889 |
T16289 |
T16287 |
pobj |
status,of |
| R4890 |
T16290 |
T16289 |
compound |
disease,status |
| R4891 |
T16291 |
T16292 |
dep |
who,carry |
| R4892 |
T16292 |
T16284 |
relcl |
carry,member |
| R4893 |
T16293 |
T16292 |
aux |
does,carry |
| R4894 |
T16294 |
T16292 |
neg |
not,carry |
| R4895 |
T16295 |
T16296 |
det |
the,deletion |
| R4896 |
T16296 |
T16292 |
dobj |
deletion,carry |
| R4897 |
T16297 |
T16262 |
punct |
.,blot |
| R4898 |
T16299 |
T16300 |
advmod |
Notably,show |
| R4899 |
T16301 |
T16302 |
det |
the,samples |
| R4900 |
T16302 |
T16300 |
nsubj |
samples,show |
| R4901 |
T16303 |
T16302 |
prep |
from,samples |
| R4902 |
T16304 |
T16303 |
pobj |
patients,from |
| R4903 |
T16305 |
T16304 |
prep |
with,patients |
| R4904 |
T16306 |
T16307 |
compound |
ITPR1,deletion |
| R4905 |
T16307 |
T16305 |
pobj |
deletion,with |
| R4906 |
T16308 |
T16309 |
det |
a,decrease |
| R4907 |
T16309 |
T16300 |
dobj |
decrease,show |
| R4908 |
T16310 |
T16309 |
amod |
dramatic,decrease |
| R4909 |
T16311 |
T16309 |
prep |
in,decrease |
| R4910 |
T16312 |
T16313 |
compound |
ITPR1,levels |
| R4911 |
T16313 |
T16311 |
pobj |
levels,in |
| R4912 |
T16314 |
T16300 |
punct |
.,show |
| R4913 |
T16316 |
T16317 |
aux |
To,demonstrate |
| R4914 |
T16317 |
T16318 |
advcl |
demonstrate,diluted |
| R4915 |
T16319 |
T16320 |
amod |
equal,loading |
| R4916 |
T16320 |
T16317 |
dobj |
loading,demonstrate |
| R4917 |
T16321 |
T16318 |
punct |
", ",diluted |
| R4918 |
T16322 |
T16323 |
det |
these,samples |
| R4919 |
T16323 |
T16318 |
nsubjpass |
samples,diluted |
| R4920 |
T16324 |
T16318 |
auxpass |
were,diluted |
| R4921 |
T16325 |
T16318 |
npadvmod |
one,diluted |
| R4922 |
T16326 |
T16325 |
prep |
in,one |
| R4923 |
T16327 |
T16326 |
pobj |
five,in |
| R4924 |
T16328 |
T16318 |
punct |
", ",diluted |
| R4925 |
T16329 |
T16318 |
cc |
and,diluted |
| R4926 |
T16330 |
T16331 |
det |
the,blot |
| R4927 |
T16331 |
T16333 |
nsubjpass |
blot,repeated |
| R4928 |
T16332 |
T16331 |
compound |
Western,blot |
| R4929 |
T16333 |
T16318 |
conj |
repeated,diluted |
| R4930 |
T16334 |
T16333 |
auxpass |
was,repeated |
| R4931 |
T16335 |
T16333 |
advcl |
using,repeated |
| R4932 |
T16336 |
T16337 |
det |
an,antibody |
| R4933 |
T16337 |
T16335 |
dobj |
antibody,using |
| R4934 |
T16338 |
T16337 |
prep |
against,antibody |
| R4935 |
T16339 |
T16338 |
pobj |
ACTB,against |
| R4936 |
T16340 |
T16318 |
punct |
.,diluted |
