| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T6543 |
1090-1096 |
NN |
denotes |
genome |
| T6544 |
1084-1089 |
NN |
denotes |
mouse |
| T6436 |
464-465 |
DT |
denotes |
a |
| T6363 |
19-25 |
IN |
denotes |
During |
| T6364 |
94-99 |
VBD |
denotes |
noted |
| T6365 |
26-29 |
DT |
denotes |
the |
| T6366 |
30-40 |
NN |
denotes |
generation |
| T6367 |
41-43 |
IN |
denotes |
of |
| T6368 |
44-45 |
DT |
denotes |
a |
| T6369 |
46-50 |
NN |
denotes |
line |
| T6370 |
51-53 |
IN |
denotes |
of |
| T6371 |
54-58 |
NNS |
denotes |
mice |
| T6372 |
59-63 |
IN |
denotes |
with |
| T6373 |
64-72 |
NN |
denotes |
knockout |
| T6374 |
73-75 |
IN |
denotes |
of |
| T6375 |
76-79 |
DT |
denotes |
the |
| T6376 |
80-84 |
NN |
denotes |
gene |
| T6377 |
85-90 |
NN |
denotes |
Park7 |
| T6378 |
91-93 |
PRP |
denotes |
we |
| T6379 |
100-102 |
DT |
denotes |
an |
| T6380 |
118-126 |
NN |
denotes |
disorder |
| T6381 |
103-108 |
JJ |
denotes |
early |
| T6382 |
109-117 |
NN |
denotes |
movement |
| T6383 |
127-131 |
WDT |
denotes |
that |
| T6384 |
136-145 |
VBN |
denotes |
inherited |
| T6385 |
132-135 |
VBD |
denotes |
was |
| T6386 |
146-159 |
RB |
denotes |
independently |
| T6387 |
160-162 |
IN |
denotes |
of |
| T6388 |
163-172 |
NN |
denotes |
targeting |
| T6389 |
173-179 |
NN |
denotes |
vector |
| T6390 |
180-192 |
NN |
denotes |
transmission |
| T6391 |
192-193 |
. |
denotes |
. |
| T6392 |
193-328 |
sentence |
denotes |
Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch. |
| T6393 |
194-197 |
PRP$ |
denotes |
Our |
| T6394 |
206-218 |
NNS |
denotes |
observations |
| T6395 |
198-205 |
JJ |
denotes |
initial |
| T6396 |
219-228 |
VBD |
denotes |
suggested |
| T6397 |
229-232 |
DT |
denotes |
the |
| T6398 |
242-246 |
NNS |
denotes |
mice |
| T6399 |
233-241 |
VBN |
denotes |
affected |
| T6400 |
247-255 |
VBD |
denotes |
suffered |
| T6401 |
256-260 |
IN |
denotes |
from |
| T6402 |
261-263 |
DT |
denotes |
an |
| T6403 |
295-303 |
NN |
denotes |
disorder |
| T6404 |
264-274 |
RB |
denotes |
apparently |
| T6405 |
275-285 |
JJ |
denotes |
paroxysmal |
| T6406 |
286-294 |
NN |
denotes |
movement |
| T6407 |
303-305 |
, |
denotes |
, |
| T6408 |
305-310 |
RB |
denotes |
often |
| T6409 |
311-318 |
VBN |
denotes |
induced |
| T6410 |
319-321 |
IN |
denotes |
by |
| T6411 |
322-327 |
NN |
denotes |
touch |
| T6412 |
327-328 |
. |
denotes |
. |
| T6413 |
328-439 |
sentence |
denotes |
The abnormal movements occurred predominantly below the cervical level, and the disorder appeared progressive. |
| T6414 |
329-332 |
DT |
denotes |
The |
| T6415 |
342-351 |
NNS |
denotes |
movements |
| T6416 |
333-341 |
JJ |
denotes |
abnormal |
| T6417 |
352-360 |
VBD |
denotes |
occurred |
| T6418 |
361-374 |
RB |
denotes |
predominantly |
| T6419 |
375-380 |
IN |
denotes |
below |
| T6420 |
381-384 |
DT |
denotes |
the |
| T6421 |
394-399 |
NN |
denotes |
level |
| T6422 |
385-393 |
JJ |
denotes |
cervical |
| T6423 |
399-401 |
, |
denotes |
, |
| T6424 |
401-404 |
CC |
denotes |
and |
| T6425 |
405-408 |
DT |
denotes |
the |
| T6426 |
409-417 |
NN |
denotes |
disorder |
| T6427 |
418-426 |
VBD |
denotes |
appeared |
| T6428 |
427-438 |
JJ |
denotes |
progressive |
| T6429 |
438-439 |
. |
denotes |
. |
| T6430 |
439-674 |
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 |
440-442 |
IN |
denotes |
At |
| T6432 |
512-519 |
VBD |
denotes |
likened |
| T6433 |
443-450 |
JJ |
denotes |
initial |
| T6434 |
451-462 |
NN |
denotes |
examination |
| T6435 |
462-464 |
, |
denotes |
, |
| T6437 |
490-500 |
NN |
denotes |
specialist |
| T6438 |
466-471 |
JJ |
denotes |
human |
| T6439 |
481-489 |
NN |
denotes |
disorder |
| T6440 |
472-480 |
NN |
denotes |
movement |
| T6441 |
501-502 |
-LRB- |
denotes |
( |
| T6442 |
508-510 |
NNP |
denotes |
H. |
| T6443 |
502-504 |
NNP |
denotes |
K. |
| T6444 |
505-507 |
NNP |
denotes |
G. |
| T6445 |
507-508 |
HYPH |
denotes |
- |
| T6446 |
510-511 |
-RRB- |
denotes |
) |
| T6447 |
520-523 |
DT |
denotes |
the |
| T6448 |
524-532 |
NN |
denotes |
disorder |
| T6449 |
533-535 |
IN |
denotes |
to |
| T6450 |
536-544 |
JJ |
denotes |
episodic |
| T6451 |
558-564 |
NN |
denotes |
ataxia |
| T6452 |
545-557 |
JJ |
denotes |
intermittent |
| T6453 |
565-567 |
CC |
denotes |
or |
| T6454 |
568-580 |
JJ |
denotes |
kinesiogenic |
| T6455 |
592-600 |
NN |
denotes |
dystonia |
| T6456 |
581-591 |
JJ |
denotes |
paroxysmal |
| T6457 |
601-604 |
CC |
denotes |
and |
| T6458 |
605-614 |
VBD |
denotes |
predicted |
| T6459 |
615-618 |
DT |
denotes |
the |
| T6460 |
619-630 |
NN |
denotes |
involvement |
| T6461 |
631-633 |
IN |
denotes |
of |
| T6462 |
634-636 |
DT |
denotes |
an |
| T6463 |
649-657 |
NN |
denotes |
mutation |
| T6464 |
637-640 |
NN |
denotes |
ion |
| T6465 |
641-648 |
NN |
denotes |
channel |
| T6466 |
658-660 |
IN |
denotes |
in |
| T6467 |
661-664 |
DT |
denotes |
the |
| T6468 |
665-673 |
NN |
denotes |
etiology |
| T6469 |
673-674 |
. |
denotes |
. |
| T6470 |
674-800 |
sentence |
denotes |
Affected mice presented at approximately postnatal day 14, and survival time without weaning was on average 4 wk after onset. |
| T6471 |
675-683 |
VBN |
denotes |
Affected |
| T6472 |
684-688 |
NNS |
denotes |
mice |
| T6473 |
689-698 |
VBD |
denotes |
presented |
| T6474 |
699-701 |
IN |
denotes |
at |
| T6475 |
702-715 |
RB |
denotes |
approximately |
| T6476 |
726-729 |
NN |
denotes |
day |
| T6477 |
716-725 |
JJ |
denotes |
postnatal |
| T6478 |
730-732 |
CD |
denotes |
14 |
| T6479 |
732-734 |
, |
denotes |
, |
| T6480 |
734-737 |
CC |
denotes |
and |
| T6481 |
738-746 |
NN |
denotes |
survival |
| T6482 |
747-751 |
NN |
denotes |
time |
| T6483 |
768-771 |
VBD |
denotes |
was |
| T6484 |
752-759 |
IN |
denotes |
without |
| T6485 |
760-767 |
NN |
denotes |
weaning |
| T6486 |
772-774 |
IN |
denotes |
on |
| T6487 |
775-782 |
JJ |
denotes |
average |
| T6488 |
783-784 |
CD |
denotes |
4 |
| T6489 |
785-787 |
NN |
denotes |
wk |
| T6490 |
788-793 |
IN |
denotes |
after |
| T6491 |
794-799 |
NN |
denotes |
onset |
| T6492 |
799-800 |
. |
denotes |
. |
| T6493 |
800-906 |
sentence |
denotes |
Breeding experiments suggested that the observed disorder was inherited in an autosomal recessive manner. |
| T6494 |
801-809 |
NN |
denotes |
Breeding |
| T6495 |
810-821 |
NNS |
denotes |
experiments |
| T6496 |
822-831 |
VBD |
denotes |
suggested |
| T6497 |
832-836 |
IN |
denotes |
that |
| T6498 |
863-872 |
VBN |
denotes |
inherited |
| T6499 |
837-840 |
DT |
denotes |
the |
| T6500 |
850-858 |
NN |
denotes |
disorder |
| T6501 |
841-849 |
VBN |
denotes |
observed |
| T6502 |
859-862 |
VBD |
denotes |
was |
| T6503 |
873-875 |
IN |
denotes |
in |
| T6504 |
876-878 |
DT |
denotes |
an |
| T6505 |
899-905 |
NN |
denotes |
manner |
| T6506 |
879-888 |
JJ |
denotes |
autosomal |
| T6507 |
889-898 |
JJ |
denotes |
recessive |
| T6508 |
905-906 |
. |
denotes |
. |
| T6509 |
906-1097 |
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 |
907-909 |
TO |
denotes |
To |
| T6511 |
910-913 |
VB |
denotes |
map |
| T6512 |
961-970 |
VBD |
denotes |
performed |
| T6513 |
914-917 |
DT |
denotes |
the |
| T6514 |
918-926 |
NN |
denotes |
location |
| T6515 |
927-929 |
IN |
denotes |
of |
| T6516 |
930-933 |
DT |
denotes |
the |
| T6517 |
950-956 |
NN |
denotes |
lesion |
| T6518 |
934-941 |
NN |
denotes |
disease |
| T6519 |
942-949 |
VBG |
denotes |
causing |
| T6520 |
941-942 |
HYPH |
denotes |
- |
| T6521 |
956-958 |
, |
denotes |
, |
| T6522 |
958-960 |
PRP |
denotes |
we |
| T6523 |
971-977 |
NN |
denotes |
genome |
| T6524 |
978-982 |
JJ |
denotes |
wide |
| T6525 |
977-978 |
HYPH |
denotes |
- |
| T6526 |
991-999 |
NN |
denotes |
analysis |
| T6527 |
983-990 |
NN |
denotes |
linkage |
| T6528 |
1000-1005 |
VBG |
denotes |
using |
| T6529 |
1006-1012 |
NN |
denotes |
strain |
| T6530 |
1013-1021 |
JJ |
denotes |
specific |
| T6531 |
1012-1013 |
HYPH |
denotes |
- |
| T6532 |
1040-1053 |
NNS |
denotes |
polymorphisms |
| T6533 |
1022-1028 |
JJ |
denotes |
single |
| T6534 |
1029-1039 |
NN |
denotes |
nucleotide |
| T6535 |
1054-1055 |
-LRB- |
denotes |
( |
| T6536 |
1055-1059 |
NNS |
denotes |
SNPs |
| T6537 |
1059-1060 |
-RRB- |
denotes |
) |
| T6538 |
1061-1063 |
IN |
denotes |
at |
| T6539 |
1064-1067 |
CD |
denotes |
120 |
| T6540 |
1068-1072 |
NNS |
denotes |
loci |
| T6541 |
1073-1079 |
IN |
denotes |
across |
| T6542 |
1080-1083 |
DT |
denotes |
the |
| T6545 |
1096-1097 |
. |
denotes |
. |
| T6546 |
1097-1273 |
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 |
1098-1106 |
NN |
denotes |
Analysis |
| T6548 |
1121-1127 |
VBD |
denotes |
showed |
| T6549 |
1107-1109 |
IN |
denotes |
of |
| T6550 |
1110-1115 |
DT |
denotes |
these |
| T6551 |
1116-1120 |
NNS |
denotes |
data |
| T6552 |
1128-1129 |
DT |
denotes |
a |
| T6553 |
1145-1151 |
NN |
denotes |
region |
| T6554 |
1130-1136 |
JJ |
denotes |
single |
| T6555 |
1137-1144 |
JJ |
denotes |
genomic |
| T6556 |
1152-1156 |
IN |
denotes |
with |
| T6557 |
1157-1168 |
JJ |
denotes |
significant |
| T6558 |
1169-1176 |
NN |
denotes |
linkage |
| T6559 |
1177-1179 |
IN |
denotes |
to |
| T6560 |
1180-1187 |
NN |
denotes |
disease |
| T6561 |
1187-1189 |
, |
denotes |
, |
| T6562 |
1189-1198 |
VBG |
denotes |
providing |
| T6563 |
1199-1200 |
DT |
denotes |
a |
| T6564 |
1215-1220 |
NN |
denotes |
score |
| T6565 |
1201-1204 |
CD |
denotes |
two |
| T6566 |
1205-1210 |
NN |
denotes |
point |
| T6567 |
1204-1205 |
HYPH |
denotes |
- |
| T6568 |
1211-1214 |
NN |
denotes |
LOD |
| T6569 |
1221-1223 |
IN |
denotes |
of |
| T6570 |
1224-1228 |
CD |
denotes |
5.13 |
| T6571 |
1229-1231 |
IN |
denotes |
at |
| T6572 |
1232-1238 |
NN |
denotes |
marker |
| T6573 |
1239-1253 |
NN |
denotes |
20.MMHAP85FLG2 |
| T6574 |
1254-1256 |
IN |
denotes |
on |
| T6575 |
1257-1267 |
NN |
denotes |
Chromosome |
| T6576 |
1268-1272 |
NN |
denotes |
6qE1 |
| T6577 |
1272-1273 |
. |
denotes |
. |
| T6578 |
1273-1371 |
sentence |
denotes |
The linked haplotype suggested the mutation had occurred on the 129x1/SvJ background (Figure S1). |
| T6579 |
1274-1277 |
DT |
denotes |
The |
| T6580 |
1285-1294 |
NN |
denotes |
haplotype |
| T6581 |
1278-1284 |
VBN |
denotes |
linked |
| T6582 |
1295-1304 |
VBD |
denotes |
suggested |
| T6583 |
1305-1308 |
DT |
denotes |
the |
| T6584 |
1309-1317 |
NN |
denotes |
mutation |
| T6585 |
1322-1330 |
VBN |
denotes |
occurred |
| T6586 |
1318-1321 |
VBD |
denotes |
had |
| T6587 |
1331-1333 |
IN |
denotes |
on |
| T6588 |
1334-1337 |
DT |
denotes |
the |
| T6589 |
1348-1358 |
NN |
denotes |
background |
| T6590 |
1338-1343 |
NN |
denotes |
129x1 |
| T6591 |
1344-1347 |
NN |
denotes |
SvJ |
| T6592 |
1343-1344 |
HYPH |
denotes |
/ |
| T6593 |
1359-1360 |
-LRB- |
denotes |
( |
| T6594 |
1367-1369 |
NN |
denotes |
S1 |
| T6595 |
1360-1366 |
NN |
denotes |
Figure |
| T6596 |
1369-1370 |
-RRB- |
denotes |
) |
| T6597 |
1370-1371 |
. |
denotes |
. |
| T6598 |
1371-1545 |
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 |
1372-1382 |
NN |
denotes |
Literature |
| T6600 |
1383-1391 |
NNS |
denotes |
searches |
| T6601 |
1392-1400 |
VBD |
denotes |
revealed |
| T6602 |
1401-1405 |
IN |
denotes |
that |
| T6603 |
1475-1483 |
VBZ |
denotes |
displays |
| T6604 |
1406-1411 |
IN |
denotes |
among |
| T6605 |
1412-1419 |
NN |
denotes |
disease |
| T6606 |
1420-1425 |
NNS |
denotes |
lines |
| T6607 |
1426-1432 |
VBN |
denotes |
mapped |
| T6608 |
1433-1435 |
IN |
denotes |
to |
| T6609 |
1436-1440 |
NN |
denotes |
6qE1 |
| T6610 |
1440-1442 |
, |
denotes |
, |
| T6611 |
1442-1445 |
DT |
denotes |
the |
| T6612 |
1458-1464 |
NN |
denotes |
mutant |
| T6613 |
1446-1457 |
JJ |
denotes |
spontaneous |
| T6614 |
1465-1468 |
NN |
denotes |
opt |
| T6615 |
1469-1474 |
NN |
denotes |
mouse |
| T6616 |
1484-1485 |
DT |
denotes |
a |
| T6617 |
1505-1517 |
NN |
denotes |
presentation |
| T6618 |
1486-1496 |
RB |
denotes |
strikingly |
| T6619 |
1497-1504 |
JJ |
denotes |
similar |
| T6620 |
1518-1520 |
IN |
denotes |
to |
| T6621 |
1521-1525 |
DT |
denotes |
that |
| T6622 |
1526-1535 |
VBN |
denotes |
described |
| T6623 |
1536-1540 |
RB |
denotes |
here |
| T6624 |
1541-1542 |
-LRB- |
denotes |
[ |
| T6625 |
1542-1543 |
CD |
denotes |
1 |
| T6626 |
1543-1544 |
-RRB- |
denotes |
] |
| T6627 |
1544-1545 |
. |
denotes |
. |
| T6628 |
1545-1746 |
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 |
1546-1549 |
DT |
denotes |
The |
| T6630 |
1569-1575 |
NN |
denotes |
lesion |
| T6631 |
1550-1560 |
VBG |
denotes |
underlying |
| T6632 |
1561-1568 |
JJ |
denotes |
genetic |
| T6633 |
1602-1604 |
VBZ |
denotes |
is |
| T6634 |
1576-1583 |
VBG |
denotes |
causing |
| T6635 |
1584-1587 |
DT |
denotes |
the |
| T6636 |
1592-1601 |
NN |
denotes |
phenotype |
| T6637 |
1588-1591 |
NN |
denotes |
opt |
| T6638 |
1605-1606 |
DT |
denotes |
a |
| T6639 |
1627-1635 |
NN |
denotes |
deletion |
| T6640 |
1607-1617 |
JJ |
denotes |
homozygous |
| T6641 |
1618-1620 |
IN |
denotes |
in |
| T6642 |
1621-1626 |
NN |
denotes |
frame |
| T6643 |
1620-1621 |
HYPH |
denotes |
- |
| T6644 |
1636-1638 |
IN |
denotes |
of |
| T6645 |
1639-1644 |
NNS |
denotes |
exons |
| T6646 |
1645-1647 |
CD |
denotes |
43 |
| T6647 |
1648-1651 |
CC |
denotes |
and |
| T6648 |
1652-1654 |
CD |
denotes |
44 |
| T6649 |
1655-1657 |
IN |
denotes |
of |
| T6650 |
1658-1661 |
DT |
denotes |
the |
| T6651 |
1667-1672 |
NN |
denotes |
Itpr1 |
| T6652 |
1662-1666 |
NN |
denotes |
gene |
| T6653 |
1673-1674 |
-LRB- |
denotes |
( |
| T6654 |
1684-1687 |
NN |
denotes |
opt |
| T6655 |
1674-1682 |
NN |
denotes |
Itpr1opt |
| T6656 |
1683-1684 |
HYPH |
denotes |
/ |
| T6657 |
1687-1688 |
-RRB- |
denotes |
) |
| T6658 |
1688-1690 |
, |
denotes |
, |
| T6659 |
1690-1698 |
VBG |
denotes |
encoding |
| T6660 |
1699-1707 |
NN |
denotes |
inositol |
| T6661 |
1727-1735 |
NN |
denotes |
receptor |
| T6662 |
1708-1709 |
CD |
denotes |
1 |
| T6663 |
1712-1713 |
CD |
denotes |
5 |
| T6664 |
1709-1710 |
, |
denotes |
, |
| T6665 |
1710-1711 |
CD |
denotes |
4 |
| T6666 |
1711-1712 |
, |
denotes |
, |
| T6667 |
1714-1726 |
NN |
denotes |
triphosphate |
| T6668 |
1713-1714 |
HYPH |
denotes |
- |
| T6669 |
1736-1737 |
CD |
denotes |
1 |
| T6670 |
1738-1739 |
-LRB- |
denotes |
( |
| T6671 |
1739-1744 |
NN |
denotes |
Itpr1 |
| T6672 |
1744-1745 |
-RRB- |
denotes |
) |
| T6673 |
1745-1746 |
. |
denotes |
. |
| T6674 |
1746-1953 |
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 |
1747-1757 |
NN |
denotes |
Sequencing |
| T6676 |
1847-1855 |
VBD |
denotes |
revealed |
| T6677 |
1758-1760 |
IN |
denotes |
of |
| T6678 |
1761-1764 |
DT |
denotes |
all |
| T6679 |
1765-1770 |
NNS |
denotes |
exons |
| T6680 |
1771-1774 |
CC |
denotes |
and |
| T6681 |
1775-1781 |
NN |
denotes |
intron |
| T6682 |
1782-1786 |
NN |
denotes |
exon |
| T6683 |
1781-1782 |
HYPH |
denotes |
– |
| T6684 |
1787-1797 |
NNS |
denotes |
boundaries |
| T6685 |
1798-1800 |
IN |
denotes |
of |
| T6686 |
1801-1806 |
NN |
denotes |
Itpr1 |
| T6687 |
1807-1809 |
IN |
denotes |
in |
| T6688 |
1810-1818 |
VBN |
denotes |
affected |
| T6689 |
1819-1823 |
NNS |
denotes |
mice |
| T6690 |
1824-1828 |
IN |
denotes |
from |
| T6691 |
1829-1832 |
DT |
denotes |
the |
| T6692 |
1841-1846 |
NN |
denotes |
study |
| T6693 |
1833-1840 |
JJ |
denotes |
current |
| T6694 |
1856-1857 |
DT |
denotes |
a |
| T6695 |
1865-1873 |
NN |
denotes |
mutation |
| T6696 |
1858-1864 |
JJ |
denotes |
single |
| T6697 |
1874-1880 |
IN |
denotes |
within |
| T6698 |
1881-1886 |
NN |
denotes |
Itpr1 |
| T6699 |
1886-1888 |
: |
denotes |
: |
| T6700 |
1888-1889 |
DT |
denotes |
a |
| T6701 |
1905-1913 |
NN |
denotes |
deletion |
| T6702 |
1890-1895 |
JJ |
denotes |
novel |
| T6703 |
1896-1898 |
IN |
denotes |
in |
| T6704 |
1898-1899 |
HYPH |
denotes |
- |
| T6705 |
1899-1904 |
NN |
denotes |
frame |
| T6706 |
1914-1916 |
IN |
denotes |
of |
| T6707 |
1917-1919 |
CD |
denotes |
18 |
| T6708 |
1920-1922 |
NN |
denotes |
bp |
| T6709 |
1923-1929 |
IN |
denotes |
within |
| T6710 |
1930-1934 |
NN |
denotes |
exon |
| T6711 |
1935-1937 |
CD |
denotes |
36 |
| T6712 |
1938-1939 |
-LRB- |
denotes |
( |
| T6713 |
1948-1951 |
NN |
denotes |
Δ18 |
| T6714 |
1939-1947 |
NN |
denotes |
Itpr1Δ18 |
| T6715 |
1947-1948 |
HYPH |
denotes |
/ |
| T6716 |
1951-1952 |
-RRB- |
denotes |
) |
| T6717 |
1952-1953 |
. |
denotes |
. |
| T6718 |
1953-2124 |
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 |
1954-1956 |
TO |
denotes |
To |
| T6720 |
1957-1964 |
VB |
denotes |
confirm |
| T6721 |
2003-2010 |
VBD |
denotes |
crossed |
| T6722 |
1965-1968 |
DT |
denotes |
the |
| T6723 |
1969-1982 |
NN |
denotes |
pathogenicity |
| T6724 |
1983-1985 |
IN |
denotes |
of |
| T6725 |
1986-1990 |
DT |
denotes |
this |
| T6726 |
1991-1999 |
NN |
denotes |
mutation |
| T6727 |
2000-2002 |
PRP |
denotes |
we |
| T6728 |
2011-2023 |
JJ |
denotes |
heterozygous |
| T6729 |
2024-2028 |
NNS |
denotes |
mice |
| T6730 |
2029-2033 |
IN |
denotes |
from |
| T6731 |
2034-2037 |
DT |
denotes |
the |
| T6732 |
2046-2051 |
NN |
denotes |
study |
| T6733 |
2038-2045 |
JJ |
denotes |
current |
| T6734 |
2052-2053 |
-LRB- |
denotes |
( |
| T6735 |
2061-2064 |
NN |
denotes |
Δ18 |
| T6736 |
2053-2060 |
NN |
denotes |
Itpr1wt |
| T6737 |
2060-2061 |
HYPH |
denotes |
/ |
| T6738 |
2064-2065 |
-RRB- |
denotes |
) |
| T6739 |
2066-2070 |
IN |
denotes |
with |
| T6740 |
2071-2075 |
NNS |
denotes |
mice |
| T6741 |
2076-2088 |
JJ |
denotes |
heterozygous |
| T6742 |
2089-2092 |
IN |
denotes |
for |
| T6743 |
2093-2096 |
DT |
denotes |
the |
| T6744 |
2101-2109 |
NN |
denotes |
mutation |
| T6745 |
2097-2100 |
NN |
denotes |
opt |
| T6746 |
2110-2111 |
-LRB- |
denotes |
( |
| T6747 |
2119-2122 |
NN |
denotes |
opt |
| T6748 |
2111-2118 |
NN |
denotes |
Itpr1wt |
| T6749 |
2118-2119 |
HYPH |
denotes |
/ |
| T6750 |
2122-2123 |
-RRB- |
denotes |
) |
| T6751 |
2123-2124 |
. |
denotes |
. |
| T6752 |
2124-2323 |
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 |
2125-2129 |
DT |
denotes |
This |
| T6754 |
2130-2138 |
VBD |
denotes |
resulted |
| T6755 |
2139-2141 |
IN |
denotes |
in |
| T6756 |
2142-2145 |
CD |
denotes |
two |
| T6757 |
2146-2153 |
NNS |
denotes |
litters |
| T6758 |
2154-2156 |
IN |
denotes |
of |
| T6759 |
2157-2161 |
NNS |
denotes |
mice |
| T6760 |
2162-2166 |
IN |
denotes |
with |
| T6761 |
2167-2168 |
DT |
denotes |
a |
| T6762 |
2169-2174 |
NN |
denotes |
total |
| T6763 |
2175-2177 |
IN |
denotes |
of |
| T6764 |
2178-2182 |
CD |
denotes |
four |
| T6765 |
2205-2209 |
NNS |
denotes |
pups |
| T6766 |
2183-2191 |
VBN |
denotes |
affected |
| T6767 |
2192-2200 |
NN |
denotes |
Itpr1opt |
| T6768 |
2201-2204 |
NN |
denotes |
Δ18 |
| T6769 |
2200-2201 |
HYPH |
denotes |
/ |
| T6770 |
2210-2211 |
-LRB- |
denotes |
( |
| T6771 |
2211-2215 |
IN |
denotes |
from |
| T6772 |
2216-2217 |
DT |
denotes |
a |
| T6773 |
2218-2223 |
NN |
denotes |
total |
| T6774 |
2224-2226 |
IN |
denotes |
of |
| T6775 |
2227-2229 |
CD |
denotes |
15 |
| T6776 |
2229-2230 |
-RRB- |
denotes |
) |
| T6777 |
2231-2235 |
IN |
denotes |
with |
| T6778 |
2236-2237 |
DT |
denotes |
a |
| T6779 |
2238-2247 |
NN |
denotes |
phenotype |
| T6780 |
2248-2265 |
JJ |
denotes |
indistinguishable |
| T6781 |
2266-2270 |
IN |
denotes |
from |
| T6782 |
2271-2275 |
DT |
denotes |
that |
| T6783 |
2276-2278 |
IN |
denotes |
of |
| T6784 |
2279-2282 |
DT |
denotes |
the |
| T6785 |
2314-2318 |
NNS |
denotes |
mice |
| T6786 |
2283-2291 |
NN |
denotes |
Itpr1Δ18 |
| T6787 |
2292-2295 |
NN |
denotes |
Δ18 |
| T6788 |
2291-2292 |
HYPH |
denotes |
/ |
| T6789 |
2296-2299 |
CC |
denotes |
and |
| T6790 |
2300-2308 |
NN |
denotes |
Itpr1opt |
| T6791 |
2310-2313 |
NN |
denotes |
opt |
| T6792 |
2309-2310 |
HYPH |
denotes |
/ |
| T6793 |
2319-2320 |
-LRB- |
denotes |
[ |
| T6794 |
2320-2321 |
CD |
denotes |
1 |
| T6795 |
2321-2322 |
-RRB- |
denotes |
] |
| T6796 |
2322-2323 |
. |
denotes |
. |
| T6797 |
2323-2508 |
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 |
2324-2335 |
RB |
denotes |
Furthermore |
| T6799 |
2352-2355 |
VBD |
denotes |
was |
| T6800 |
2335-2337 |
, |
denotes |
, |
| T6801 |
2337-2341 |
DT |
denotes |
this |
| T6802 |
2342-2351 |
NN |
denotes |
phenotype |
| T6803 |
2356-2363 |
JJ |
denotes |
similar |
| T6804 |
2363-2365 |
, |
denotes |
, |
| T6805 |
2365-2373 |
IN |
denotes |
although |
| T6806 |
2379-2385 |
JJ |
denotes |
severe |
| T6807 |
2374-2378 |
RBR |
denotes |
less |
| T6808 |
2385-2387 |
, |
denotes |
, |
| T6809 |
2387-2389 |
IN |
denotes |
to |
| T6810 |
2390-2394 |
DT |
denotes |
that |
| T6811 |
2395-2404 |
VBN |
denotes |
described |
| T6812 |
2405-2407 |
IN |
denotes |
in |
| T6813 |
2408-2409 |
DT |
denotes |
a |
| T6814 |
2416-2420 |
NN |
denotes |
line |
| T6815 |
2410-2415 |
NN |
denotes |
mouse |
| T6816 |
2421-2425 |
IN |
denotes |
with |
| T6817 |
2426-2434 |
VBN |
denotes |
targeted |
| T6818 |
2435-2443 |
NN |
denotes |
deletion |
| T6819 |
2444-2446 |
IN |
denotes |
of |
| T6820 |
2447-2452 |
NN |
denotes |
Itpr1 |
| T6821 |
2452-2454 |
, |
denotes |
, |
| T6822 |
2454-2459 |
WRB |
denotes |
where |
| T6823 |
2471-2480 |
VBN |
denotes |
described |
| T6824 |
2460-2466 |
NN |
denotes |
ataxia |
| T6825 |
2467-2470 |
VBD |
denotes |
was |
| T6826 |
2481-2483 |
IN |
denotes |
as |
| T6827 |
2484-2485 |
DT |
denotes |
a |
| T6828 |
2496-2503 |
NN |
denotes |
feature |
| T6829 |
2486-2495 |
JJ |
denotes |
prominent |
| T6830 |
2504-2505 |
-LRB- |
denotes |
[ |
| T6831 |
2505-2506 |
CD |
denotes |
4 |
| T6832 |
2506-2507 |
-RRB- |
denotes |
] |
| T6833 |
2507-2508 |
. |
denotes |
. |
| T6834 |
2508-2769 |
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 |
2509-2511 |
IN |
denotes |
As |
| T6836 |
2694-2701 |
VBZ |
denotes |
results |
| T6837 |
2512-2516 |
IN |
denotes |
with |
| T6838 |
2517-2520 |
DT |
denotes |
the |
| T6839 |
2535-2539 |
NNS |
denotes |
mice |
| T6840 |
2521-2529 |
NN |
denotes |
Itpr1opt |
| T6841 |
2531-2534 |
NN |
denotes |
opt |
| T6842 |
2530-2531 |
HYPH |
denotes |
/ |
| T6843 |
2539-2541 |
, |
denotes |
, |
| T6844 |
2541-2546 |
WRB |
denotes |
where |
| T6845 |
2587-2596 |
VBN |
denotes |
predicted |
| T6846 |
2547-2550 |
DT |
denotes |
the |
| T6847 |
2551-2559 |
NN |
denotes |
deletion |
| T6848 |
2560-2562 |
IN |
denotes |
of |
| T6849 |
2563-2568 |
NNS |
denotes |
exons |
| T6850 |
2569-2571 |
CD |
denotes |
43 |
| T6851 |
2572-2575 |
CC |
denotes |
and |
| T6852 |
2576-2578 |
CD |
denotes |
44 |
| T6853 |
2579-2581 |
VBZ |
denotes |
is |
| T6854 |
2582-2586 |
RB |
denotes |
also |
| T6855 |
2597-2599 |
TO |
denotes |
to |
| T6856 |
2600-2605 |
VB |
denotes |
leave |
| T6857 |
2606-2609 |
DT |
denotes |
the |
| T6858 |
2632-2637 |
NN |
denotes |
frame |
| T6859 |
2610-2623 |
JJ |
denotes |
translational |
| T6860 |
2624-2631 |
NN |
denotes |
reading |
| T6861 |
2638-2648 |
JJ |
denotes |
unaffected |
| T6862 |
2648-2650 |
, |
denotes |
, |
| T6863 |
2650-2653 |
DT |
denotes |
the |
| T6864 |
2685-2693 |
NN |
denotes |
mutation |
| T6865 |
2654-2656 |
IN |
denotes |
in |
| T6866 |
2656-2657 |
HYPH |
denotes |
- |
| T6867 |
2657-2662 |
NN |
denotes |
frame |
| T6868 |
2663-2671 |
NN |
denotes |
Itpr1Δ18 |
| T6869 |
2672-2675 |
NN |
denotes |
Δ18 |
| T6870 |
2671-2672 |
HYPH |
denotes |
/ |
| T6871 |
2676-2684 |
NN |
denotes |
deletion |
| T6872 |
2702-2704 |
IN |
denotes |
in |
| T6873 |
2705-2713 |
RB |
denotes |
markedly |
| T6874 |
2714-2723 |
VBN |
denotes |
decreased |
| T6875 |
2724-2730 |
NNS |
denotes |
levels |
| T6876 |
2731-2733 |
IN |
denotes |
of |
| T6877 |
2734-2739 |
NN |
denotes |
Itpr1 |
| T6878 |
2740-2742 |
IN |
denotes |
in |
| T6879 |
2743-2753 |
JJ |
denotes |
cerebellar |
| T6880 |
2763-2768 |
NNS |
denotes |
cells |
| T6881 |
2754-2762 |
NNP |
denotes |
Purkinje |
| T6882 |
2768-2769 |
. |
denotes |
. |
| T6883 |
2769-2977 |
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 |
2770-2772 |
IN |
denotes |
In |
| T6885 |
2903-2913 |
VBN |
denotes |
associated |
| T6886 |
2773-2778 |
DT |
denotes |
these |
| T6887 |
2795-2802 |
NNS |
denotes |
mutants |
| T6888 |
2779-2782 |
CD |
denotes |
two |
| T6889 |
2783-2794 |
JJ |
denotes |
spontaneous |
| T6890 |
2803-2804 |
-LRB- |
denotes |
[ |
| T6891 |
2804-2805 |
CD |
denotes |
1 |
| T6892 |
2805-2806 |
-RRB- |
denotes |
] |
| T6893 |
2807-2810 |
CC |
denotes |
and |
| T6894 |
2811-2813 |
IN |
denotes |
in |
| T6895 |
2814-2817 |
DT |
denotes |
the |
| T6896 |
2834-2839 |
NN |
denotes |
mouse |
| T6897 |
2818-2823 |
NN |
denotes |
Itpr1 |
| T6898 |
2824-2833 |
JJ |
denotes |
deficient |
| T6899 |
2823-2824 |
HYPH |
denotes |
- |
| T6900 |
2840-2841 |
-LRB- |
denotes |
[ |
| T6901 |
2841-2842 |
CD |
denotes |
4 |
| T6902 |
2842-2843 |
-RRB- |
denotes |
] |
| T6903 |
2844-2853 |
VBN |
denotes |
generated |
| T6904 |
2854-2856 |
IN |
denotes |
by |
| T6905 |
2857-2861 |
NN |
denotes |
gene |
| T6906 |
2862-2871 |
NN |
denotes |
targeting |
| T6907 |
2871-2873 |
, |
denotes |
, |
| T6908 |
2873-2882 |
VBN |
denotes |
decreased |
| T6909 |
2889-2899 |
NN |
denotes |
expression |
| T6910 |
2883-2888 |
NN |
denotes |
Itpr1 |
| T6911 |
2900-2902 |
VBZ |
denotes |
is |
| T6912 |
2914-2918 |
IN |
denotes |
with |
| T6913 |
2919-2922 |
DT |
denotes |
the |
| T6914 |
2957-2965 |
NN |
denotes |
disorder |
| T6915 |
2923-2927 |
JJ |
denotes |
same |
| T6916 |
2928-2937 |
JJ |
denotes |
autosomal |
| T6917 |
2938-2947 |
JJ |
denotes |
recessive |
| T6918 |
2948-2956 |
NN |
denotes |
movement |
| T6919 |
2966-2967 |
-LRB- |
denotes |
( |
| T6920 |
2967-2973 |
NN |
denotes |
Figure |
| T6921 |
2974-2975 |
CD |
denotes |
1 |
| T6922 |
2975-2976 |
-RRB- |
denotes |
) |
| T6923 |
2976-2977 |
. |
denotes |
. |
| T6924 |
2977-4166 |
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 |
3939-3944 |
VBN |
denotes |
Given |
| T6926 |
3991-3997 |
VBD |
denotes |
sought |
| T6927 |
3945-3948 |
PRP$ |
denotes |
our |
| T6928 |
3949-3957 |
NN |
denotes |
interest |
| T6929 |
3958-3960 |
IN |
denotes |
in |
| T6930 |
3961-3966 |
JJ |
denotes |
human |
| T6931 |
3980-3987 |
NN |
denotes |
disease |
| T6932 |
3967-3979 |
JJ |
denotes |
neurological |
| T6933 |
3988-3990 |
PRP |
denotes |
we |
| T6934 |
3998-4000 |
TO |
denotes |
to |
| T6935 |
4001-4009 |
VB |
denotes |
identify |
| T6936 |
4010-4013 |
DT |
denotes |
any |
| T6937 |
4028-4037 |
NNS |
denotes |
disorders |
| T6938 |
4014-4021 |
JJ |
denotes |
cognate |
| T6939 |
4022-4027 |
JJ |
denotes |
human |
| T6940 |
4038-4043 |
WRB |
denotes |
where |
| T6941 |
4061-4072 |
VBN |
denotes |
established |
| T6942 |
4044-4051 |
NN |
denotes |
linkage |
| T6943 |
4052-4055 |
VBD |
denotes |
had |
| T6944 |
4056-4060 |
VBN |
denotes |
been |
| T6945 |
4073-4075 |
IN |
denotes |
to |
| T6946 |
4076-4079 |
DT |
denotes |
the |
| T6947 |
4089-4095 |
NN |
denotes |
region |
| T6948 |
4080-4088 |
JJ |
denotes |
syntenic |
| T6949 |
4096-4098 |
IN |
denotes |
of |
| T6950 |
4099-4102 |
DT |
denotes |
the |
| T6951 |
4109-4115 |
NN |
denotes |
genome |
| T6952 |
4103-4108 |
JJ |
denotes |
human |
| T6953 |
4115-4117 |
, |
denotes |
, |
| T6954 |
4117-4120 |
CC |
denotes |
but |
| T6955 |
4121-4126 |
WRB |
denotes |
where |
| T6956 |
4155-4165 |
VBN |
denotes |
identified |
| T6957 |
4127-4129 |
DT |
denotes |
no |
| T6958 |
4137-4145 |
NN |
denotes |
mutation |
| T6959 |
4130-4136 |
JJ |
denotes |
causal |
| T6960 |
4146-4149 |
VBD |
denotes |
had |
| T6961 |
4150-4154 |
VBN |
denotes |
been |
| T6962 |
4165-4166 |
. |
denotes |
. |
| T6963 |
4166-4255 |
sentence |
denotes |
SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5]. |
| T6964 |
4167-4172 |
NN |
denotes |
SCA15 |
| T6965 |
4230-4236 |
VBN |
denotes |
linked |
| T6966 |
4172-4174 |
, |
denotes |
, |
| T6967 |
4174-4176 |
DT |
denotes |
an |
| T6968 |
4220-4226 |
NN |
denotes |
ataxia |
| T6969 |
4177-4182 |
JJ |
denotes |
adult |
| T6970 |
4183-4188 |
NN |
denotes |
onset |
| T6971 |
4182-4183 |
HYPH |
denotes |
- |
| T6972 |
4189-4198 |
JJ |
denotes |
autosomal |
| T6973 |
4199-4207 |
JJ |
denotes |
dominant |
| T6974 |
4208-4219 |
JJ |
denotes |
progressive |
| T6975 |
4227-4229 |
VBZ |
denotes |
is |
| T6976 |
4237-4239 |
IN |
denotes |
to |
| T6977 |
4240-4244 |
DT |
denotes |
this |
| T6978 |
4245-4250 |
NN |
denotes |
locus |
| T6979 |
4251-4252 |
-LRB- |
denotes |
[ |
| T6980 |
4252-4253 |
CD |
denotes |
5 |
| T6981 |
4253-4254 |
-RRB- |
denotes |
] |
| T6982 |
4254-4255 |
. |
denotes |
. |
| T6983 |
4255-4536 |
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 |
4256-4264 |
IN |
denotes |
Although |
| T6985 |
4312-4317 |
VBN |
denotes |
ruled |
| T6986 |
4265-4273 |
NN |
denotes |
missense |
| T6987 |
4274-4282 |
NN |
denotes |
mutation |
| T6988 |
4283-4285 |
IN |
denotes |
of |
| T6989 |
4286-4291 |
NN |
denotes |
ITPR1 |
| T6990 |
4292-4295 |
VBD |
denotes |
had |
| T6991 |
4296-4306 |
RB |
denotes |
previously |
| T6992 |
4307-4311 |
VBN |
denotes |
been |
| T6993 |
4467-4470 |
VBD |
denotes |
led |
| T6994 |
4318-4321 |
RP |
denotes |
out |
| T6995 |
4322-4323 |
-LRB- |
denotes |
[ |
| T6996 |
4323-4324 |
CD |
denotes |
2 |
| T6997 |
4324-4325 |
-RRB- |
denotes |
] |
| T6998 |
4326-4329 |
CC |
denotes |
and |
| T6999 |
4330-4333 |
DT |
denotes |
the |
| T7000 |
4334-4338 |
NN |
denotes |
mode |
| T7001 |
4354-4357 |
VBD |
denotes |
was |
| T7002 |
4339-4341 |
IN |
denotes |
of |
| T7003 |
4342-4353 |
NN |
denotes |
inheritance |
| T7004 |
4358-4370 |
JJ |
denotes |
inconsistent |
| T7005 |
4371-4375 |
IN |
denotes |
with |
| T7006 |
4376-4380 |
DT |
denotes |
that |
| T7007 |
4381-4385 |
VBN |
denotes |
seen |
| T7008 |
4386-4388 |
IN |
denotes |
in |
| T7009 |
4389-4392 |
DT |
denotes |
the |
| T7010 |
4415-4419 |
NNS |
denotes |
mice |
| T7011 |
4393-4401 |
NN |
denotes |
Itpr1Δ18 |
| T7012 |
4402-4405 |
CC |
denotes |
and |
| T7013 |
4406-4414 |
NN |
denotes |
Itpr1opt |
| T7014 |
4419-4421 |
, |
denotes |
, |
| T7015 |
4421-4424 |
DT |
denotes |
the |
| T7016 |
4436-4444 |
NN |
denotes |
presence |
| T7017 |
4425-4435 |
JJ |
denotes |
phenotypic |
| T7018 |
4445-4447 |
IN |
denotes |
of |
| T7019 |
4448-4454 |
NN |
denotes |
ataxia |
| T7020 |
4455-4457 |
IN |
denotes |
in |
| T7021 |
4458-4461 |
DT |
denotes |
the |
| T7022 |
4462-4466 |
NNS |
denotes |
mice |
| T7023 |
4471-4473 |
PRP |
denotes |
us |
| T7024 |
4474-4476 |
TO |
denotes |
to |
| T7025 |
4477-4486 |
VB |
denotes |
reexamine |
| T7026 |
4487-4491 |
DT |
denotes |
this |
| T7027 |
4502-4506 |
NN |
denotes |
gene |
| T7028 |
4492-4501 |
NN |
denotes |
candidate |
| T7029 |
4507-4509 |
IN |
denotes |
as |
| T7030 |
4510-4511 |
DT |
denotes |
a |
| T7031 |
4521-4526 |
NN |
denotes |
cause |
| T7032 |
4512-4520 |
JJ |
denotes |
possible |
| T7033 |
4527-4529 |
IN |
denotes |
of |
| T7034 |
4530-4535 |
NN |
denotes |
SCA15 |
| T7035 |
4535-4536 |
. |
denotes |
. |
| T7036 |
4536-4756 |
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 |
4537-4539 |
PRP |
denotes |
We |
| T7038 |
4540-4548 |
VBD |
denotes |
obtained |
| T7039 |
4549-4556 |
JJ |
denotes |
genomic |
| T7040 |
4557-4560 |
NN |
denotes |
DNA |
| T7041 |
4561-4565 |
IN |
denotes |
from |
| T7042 |
4566-4571 |
CD |
denotes |
three |
| T7043 |
4588-4595 |
NNS |
denotes |
members |
| T7044 |
4572-4580 |
VBN |
denotes |
affected |
| T7045 |
4581-4587 |
NN |
denotes |
family |
| T7046 |
4596-4599 |
CC |
denotes |
and |
| T7047 |
4600-4603 |
CD |
denotes |
one |
| T7048 |
4611-4617 |
NN |
denotes |
member |
| T7049 |
4604-4610 |
NN |
denotes |
family |
| T7050 |
4618-4622 |
IN |
denotes |
with |
| T7051 |
4623-4630 |
JJ |
denotes |
unknown |
| T7052 |
4639-4645 |
NN |
denotes |
status |
| T7053 |
4631-4638 |
NN |
denotes |
disease |
| T7054 |
4646-4650 |
IN |
denotes |
from |
| T7055 |
4651-4654 |
DT |
denotes |
the |
| T7056 |
4655-4662 |
NN |
denotes |
kindred |
| T7057 |
4663-4673 |
RB |
denotes |
originally |
| T7058 |
4674-4678 |
VBN |
denotes |
used |
| T7059 |
4679-4681 |
TO |
denotes |
to |
| T7060 |
4682-4688 |
VB |
denotes |
define |
| T7061 |
4689-4692 |
CC |
denotes |
and |
| T7062 |
4693-4696 |
VB |
denotes |
map |
| T7063 |
4697-4702 |
NN |
denotes |
SCA15 |
| T7064 |
4703-4704 |
-LRB- |
denotes |
( |
| T7065 |
4711-4715 |
NN |
denotes |
AUS1 |
| T7066 |
4704-4710 |
NN |
denotes |
family |
| T7067 |
4715-4717 |
, |
denotes |
, |
| T7068 |
4717-4719 |
IN |
denotes |
of |
| T7069 |
4720-4730 |
JJ |
denotes |
Australian |
| T7070 |
4744-4750 |
NN |
denotes |
origin |
| T7071 |
4731-4736 |
AFX |
denotes |
Anglo |
| T7072 |
4737-4743 |
JJ |
denotes |
Celtic |
| T7073 |
4736-4737 |
HYPH |
denotes |
- |
| T7074 |
4750-4751 |
-RRB- |
denotes |
) |
| T7075 |
4752-4753 |
-LRB- |
denotes |
[ |
| T7076 |
4753-4754 |
CD |
denotes |
2 |
| T7077 |
4754-4755 |
-RRB- |
denotes |
] |
| T7078 |
4755-4756 |
. |
denotes |
. |
| T7079 |
4756-4932 |
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 |
4757-4759 |
PRP |
denotes |
We |
| T7081 |
4760-4769 |
VBD |
denotes |
performed |
| T7082 |
4770-4773 |
CD |
denotes |
two |
| T7083 |
4774-4785 |
NNS |
denotes |
experiments |
| T7084 |
4786-4798 |
RB |
denotes |
concurrently |
| T7085 |
4799-4801 |
IN |
denotes |
in |
| T7086 |
4802-4807 |
CD |
denotes |
three |
| T7087 |
4817-4824 |
NNS |
denotes |
members |
| T7088 |
4808-4816 |
VBN |
denotes |
affected |
| T7089 |
4825-4827 |
IN |
denotes |
of |
| T7090 |
4828-4832 |
DT |
denotes |
this |
| T7091 |
4833-4839 |
NN |
denotes |
family |
| T7092 |
4839-4841 |
: |
denotes |
: |
| T7093 |
4841-4849 |
NN |
denotes |
sequence |
| T7094 |
4850-4858 |
NN |
denotes |
analysis |
| T7095 |
4859-4861 |
IN |
denotes |
of |
| T7096 |
4862-4865 |
DT |
denotes |
the |
| T7097 |
4873-4878 |
NNS |
denotes |
exons |
| T7098 |
4866-4872 |
VBG |
denotes |
coding |
| T7099 |
4879-4881 |
IN |
denotes |
of |
| T7100 |
4882-4887 |
NN |
denotes |
ITPR1 |
| T7101 |
4888-4891 |
CC |
denotes |
and |
| T7102 |
4892-4896 |
JJ |
denotes |
high |
| T7103 |
4897-4904 |
NN |
denotes |
density |
| T7104 |
4896-4897 |
HYPH |
denotes |
- |
| T7105 |
4921-4931 |
NN |
denotes |
genotyping |
| T7106 |
4905-4911 |
NN |
denotes |
genome |
| T7107 |
4911-4912 |
HYPH |
denotes |
- |
| T7108 |
4912-4916 |
JJ |
denotes |
wide |
| T7109 |
4917-4920 |
NN |
denotes |
SNP |
| T7110 |
4931-4932 |
. |
denotes |
. |
| T7111 |
4932-5113 |
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 |
4933-4941 |
NN |
denotes |
Sequence |
| T7113 |
4942-4950 |
NN |
denotes |
analysis |
| T7114 |
4951-4957 |
VBD |
denotes |
failed |
| T7115 |
4958-4960 |
TO |
denotes |
to |
| T7116 |
4961-4965 |
VB |
denotes |
show |
| T7117 |
4966-4969 |
DT |
denotes |
any |
| T7118 |
4977-4988 |
NNS |
denotes |
alterations |
| T7119 |
4970-4976 |
NN |
denotes |
coding |
| T7120 |
4989-5000 |
VBG |
denotes |
segregating |
| T7121 |
5001-5005 |
IN |
denotes |
with |
| T7122 |
5006-5013 |
NN |
denotes |
disease |
| T7123 |
5014-5016 |
CC |
denotes |
or |
| T7124 |
5017-5020 |
DT |
denotes |
any |
| T7125 |
5021-5032 |
NNS |
denotes |
alterations |
| T7126 |
5033-5037 |
WDT |
denotes |
that |
| T7127 |
5038-5042 |
VBD |
denotes |
were |
| T7128 |
5043-5055 |
JJ |
denotes |
inconsistent |
| T7129 |
5056-5060 |
IN |
denotes |
with |
| T7130 |
5061-5070 |
JJ |
denotes |
Mendelian |
| T7131 |
5071-5079 |
NNS |
denotes |
patterns |
| T7132 |
5080-5082 |
IN |
denotes |
of |
| T7133 |
5083-5094 |
NN |
denotes |
inheritance |
| T7134 |
5095-5101 |
IN |
denotes |
within |
| T7135 |
5102-5105 |
DT |
denotes |
the |
| T7136 |
5106-5112 |
NN |
denotes |
family |
| T7137 |
5112-5113 |
. |
denotes |
. |
| T7138 |
5113-5401 |
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 |
5114-5121 |
RB |
denotes |
However |
| T7140 |
5239-5245 |
VBD |
denotes |
showed |
| T7141 |
5121-5123 |
, |
denotes |
, |
| T7142 |
5123-5136 |
NN |
denotes |
visualization |
| T7143 |
5137-5139 |
IN |
denotes |
of |
| T7144 |
5140-5143 |
NN |
denotes |
log |
| T7145 |
5144-5145 |
NN |
denotes |
R |
| T7146 |
5146-5151 |
NN |
denotes |
ratio |
| T7147 |
5152-5155 |
CC |
denotes |
and |
| T7148 |
5156-5157 |
NN |
denotes |
B |
| T7149 |
5158-5164 |
NN |
denotes |
allele |
| T7150 |
5175-5182 |
NNS |
denotes |
metrics |
| T7151 |
5165-5174 |
NN |
denotes |
frequency |
| T7152 |
5183-5187 |
IN |
denotes |
from |
| T7153 |
5188-5191 |
DT |
denotes |
the |
| T7154 |
5219-5230 |
NNS |
denotes |
experiments |
| T7155 |
5192-5198 |
NN |
denotes |
genome |
| T7156 |
5199-5203 |
JJ |
denotes |
wide |
| T7157 |
5198-5199 |
HYPH |
denotes |
- |
| T7158 |
5204-5207 |
NN |
denotes |
SNP |
| T7159 |
5208-5218 |
NN |
denotes |
genotyping |
| T7160 |
5231-5238 |
RB |
denotes |
clearly |
| T7161 |
5246-5250 |
NNS |
denotes |
data |
| T7162 |
5251-5261 |
JJ |
denotes |
consistent |
| T7163 |
5262-5266 |
IN |
denotes |
with |
| T7164 |
5267-5268 |
DT |
denotes |
a |
| T7165 |
5290-5298 |
NN |
denotes |
deletion |
| T7166 |
5269-5281 |
JJ |
denotes |
heterozygous |
| T7167 |
5282-5289 |
JJ |
denotes |
genomic |
| T7168 |
5299-5305 |
IN |
denotes |
across |
| T7169 |
5306-5309 |
DT |
denotes |
the |
| T7170 |
5320-5325 |
NN |
denotes |
third |
| T7171 |
5310-5315 |
JJ |
denotes |
first |
| T7172 |
5316-5319 |
CD |
denotes |
one |
| T7173 |
5319-5320 |
HYPH |
denotes |
- |
| T7174 |
5326-5328 |
IN |
denotes |
of |
| T7175 |
5329-5334 |
NN |
denotes |
ITPR1 |
| T7176 |
5335-5338 |
CC |
denotes |
and |
| T7177 |
5339-5345 |
IN |
denotes |
across |
| T7178 |
5346-5349 |
DT |
denotes |
the |
| T7179 |
5356-5360 |
NN |
denotes |
half |
| T7180 |
5350-5355 |
JJ |
denotes |
first |
| T7181 |
5361-5363 |
IN |
denotes |
of |
| T7182 |
5364-5365 |
DT |
denotes |
a |
| T7183 |
5378-5382 |
NN |
denotes |
gene |
| T7184 |
5366-5377 |
JJ |
denotes |
neighboring |
| T7185 |
5382-5384 |
, |
denotes |
, |
| T7186 |
5384-5389 |
NN |
denotes |
SUMF1 |
| T7187 |
5390-5391 |
-LRB- |
denotes |
( |
| T7188 |
5391-5397 |
NN |
denotes |
Figure |
| T7189 |
5398-5399 |
CD |
denotes |
2 |
| T7190 |
5399-5400 |
-RRB- |
denotes |
) |
| T7191 |
5400-5401 |
. |
denotes |
. |
| T7192 |
5401-5549 |
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 |
5402-5406 |
DT |
denotes |
This |
| T7194 |
5407-5415 |
NN |
denotes |
deletion |
| T7195 |
5416-5419 |
VBD |
denotes |
was |
| T7196 |
5420-5428 |
JJ |
denotes |
apparent |
| T7197 |
5429-5431 |
IN |
denotes |
in |
| T7198 |
5432-5435 |
DT |
denotes |
all |
| T7199 |
5458-5465 |
NNS |
denotes |
members |
| T7200 |
5436-5441 |
CD |
denotes |
three |
| T7201 |
5442-5450 |
VBN |
denotes |
affected |
| T7202 |
5451-5457 |
NN |
denotes |
family |
| T7203 |
5466-5473 |
VBN |
denotes |
studied |
| T7204 |
5474-5477 |
CC |
denotes |
and |
| T7205 |
5478-5484 |
JJ |
denotes |
absent |
| T7206 |
5485-5489 |
IN |
denotes |
from |
| T7207 |
5490-5493 |
DT |
denotes |
the |
| T7208 |
5501-5507 |
NN |
denotes |
member |
| T7209 |
5494-5500 |
NN |
denotes |
family |
| T7210 |
5508-5512 |
IN |
denotes |
with |
| T7211 |
5513-5520 |
JJ |
denotes |
unknown |
| T7212 |
5531-5537 |
NN |
denotes |
status |
| T7213 |
5521-5530 |
NN |
denotes |
affection |
| T7214 |
5538-5539 |
-LRB- |
denotes |
( |
| T7215 |
5539-5545 |
NN |
denotes |
Figure |
| T7216 |
5546-5547 |
CD |
denotes |
3 |
| T7217 |
5547-5548 |
-RRB- |
denotes |
) |
| T7218 |
5548-5549 |
. |
denotes |
. |
| T7219 |
5549-5908 |
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 |
5550-5553 |
DT |
denotes |
The |
| T7221 |
5558-5562 |
NNS |
denotes |
data |
| T7222 |
5554-5557 |
NN |
denotes |
SNP |
| T7223 |
5563-5569 |
VBD |
denotes |
showed |
| T7224 |
5688-5695 |
VBD |
denotes |
allowed |
| T7225 |
5570-5571 |
DT |
denotes |
a |
| T7226 |
5572-5580 |
NN |
denotes |
deletion |
| T7227 |
5581-5583 |
IN |
denotes |
of |
| T7228 |
5584-5591 |
IN |
denotes |
between |
| T7229 |
5592-5595 |
CD |
denotes |
188 |
| T7230 |
5596-5598 |
NN |
denotes |
kb |
| T7231 |
5599-5602 |
CC |
denotes |
and |
| T7232 |
5603-5606 |
CD |
denotes |
210 |
| T7233 |
5607-5609 |
NN |
denotes |
kb |
| T7234 |
5610-5612 |
IN |
denotes |
in |
| T7235 |
5613-5617 |
NN |
denotes |
size |
| T7236 |
5617-5618 |
: |
denotes |
; |
| T7237 |
5619-5630 |
NN |
denotes |
examination |
| T7238 |
5631-5633 |
IN |
denotes |
of |
| T7239 |
5634-5638 |
NNS |
denotes |
SNPs |
| T7240 |
5639-5641 |
IN |
denotes |
at |
| T7241 |
5642-5645 |
DT |
denotes |
the |
| T7242 |
5663-5670 |
NNS |
denotes |
regions |
| T7243 |
5646-5654 |
VBG |
denotes |
flanking |
| T7244 |
5655-5662 |
JJ |
denotes |
unknown |
| T7245 |
5671-5673 |
IN |
denotes |
of |
| T7246 |
5674-5678 |
DT |
denotes |
this |
| T7247 |
5679-5687 |
NN |
denotes |
deletion |
| T7248 |
5696-5698 |
PRP |
denotes |
us |
| T7249 |
5702-5709 |
VB |
denotes |
delimit |
| T7250 |
5699-5701 |
TO |
denotes |
to |
| T7251 |
5710-5713 |
DT |
denotes |
the |
| T7252 |
5714-5721 |
NNS |
denotes |
borders |
| T7253 |
5722-5724 |
IN |
denotes |
of |
| T7254 |
5725-5728 |
DT |
denotes |
the |
| T7255 |
5729-5737 |
NN |
denotes |
deletion |
| T7256 |
5738-5740 |
IN |
denotes |
to |
| T7257 |
5741-5744 |
CD |
denotes |
7.5 |
| T7258 |
5745-5747 |
NN |
denotes |
kb |
| T7259 |
5748-5750 |
IN |
denotes |
on |
| T7260 |
5751-5754 |
DT |
denotes |
the |
| T7261 |
5765-5769 |
NN |
denotes |
side |
| T7262 |
5755-5764 |
JJ |
denotes |
telomeric |
| T7263 |
5770-5772 |
IN |
denotes |
of |
| T7264 |
5773-5776 |
DT |
denotes |
the |
| T7265 |
5777-5785 |
NN |
denotes |
deletion |
| T7266 |
5786-5787 |
-LRB- |
denotes |
( |
| T7267 |
5787-5794 |
IN |
denotes |
between |
| T7268 |
5795-5805 |
NN |
denotes |
rs12634249 |
| T7269 |
5806-5809 |
CC |
denotes |
and |
| T7270 |
5810-5818 |
NN |
denotes |
rs793396 |
| T7271 |
5818-5819 |
-RRB- |
denotes |
) |
| T7272 |
5820-5823 |
CC |
denotes |
and |
| T7273 |
5824-5825 |
SYM |
denotes |
~ |
| T7274 |
5825-5829 |
CD |
denotes |
14.4 |
| T7275 |
5830-5832 |
NN |
denotes |
kb |
| T7276 |
5833-5835 |
IN |
denotes |
on |
| T7277 |
5836-5839 |
DT |
denotes |
the |
| T7278 |
5852-5856 |
NN |
denotes |
side |
| T7279 |
5840-5851 |
JJ |
denotes |
centromeric |
| T7280 |
5857-5859 |
IN |
denotes |
of |
| T7281 |
5860-5863 |
DT |
denotes |
the |
| T7282 |
5864-5872 |
NN |
denotes |
deletion |
| T7283 |
5873-5874 |
-LRB- |
denotes |
( |
| T7284 |
5874-5881 |
IN |
denotes |
between |
| T7285 |
5882-5891 |
NN |
denotes |
rs4073665 |
| T7286 |
5892-5895 |
CC |
denotes |
and |
| T7287 |
5896-5906 |
NN |
denotes |
rs17709863 |
| T7288 |
5906-5907 |
-RRB- |
denotes |
) |
| T7289 |
5907-5908 |
. |
denotes |
. |
| T7290 |
5908-6192 |
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 |
5909-5911 |
IN |
denotes |
In |
| T7292 |
5985-5993 |
VBD |
denotes |
analyzed |
| T7293 |
5912-5914 |
DT |
denotes |
an |
| T7294 |
5915-5922 |
NN |
denotes |
attempt |
| T7295 |
5923-5925 |
TO |
denotes |
to |
| T7296 |
5926-5932 |
VB |
denotes |
define |
| T7297 |
5933-5940 |
IN |
denotes |
whether |
| T7298 |
5956-5959 |
VBD |
denotes |
was |
| T7299 |
5941-5945 |
DT |
denotes |
this |
| T7300 |
5946-5955 |
NN |
denotes |
variation |
| T7301 |
5960-5961 |
DT |
denotes |
a |
| T7302 |
5969-5981 |
NN |
denotes |
polymorphism |
| T7303 |
5962-5968 |
JJ |
denotes |
benign |
| T7304 |
5982-5984 |
PRP |
denotes |
we |
| T7305 |
5994-6000 |
NN |
denotes |
genome |
| T7306 |
6001-6005 |
JJ |
denotes |
wide |
| T7307 |
6000-6001 |
HYPH |
denotes |
- |
| T7308 |
6010-6014 |
NNS |
denotes |
data |
| T7309 |
6006-6009 |
NN |
denotes |
SNP |
| T7310 |
6015-6017 |
IN |
denotes |
at |
| T7311 |
6018-6022 |
DT |
denotes |
this |
| T7312 |
6023-6028 |
NN |
denotes |
locus |
| T7313 |
6028-6030 |
, |
denotes |
, |
| T7314 |
6030-6038 |
VBN |
denotes |
produced |
| T7315 |
6039-6044 |
VBG |
denotes |
using |
| T7316 |
6045-6048 |
DT |
denotes |
the |
| T7317 |
6065-6069 |
NN |
denotes |
chip |
| T7318 |
6049-6053 |
JJ |
denotes |
same |
| T7319 |
6054-6064 |
NN |
denotes |
genotyping |
| T7320 |
6069-6071 |
, |
denotes |
, |
| T7321 |
6071-6075 |
IN |
denotes |
from |
| T7322 |
6076-6079 |
CD |
denotes |
577 |
| T7323 |
6080-6091 |
NNS |
denotes |
individuals |
| T7324 |
6092-6094 |
IN |
denotes |
of |
| T7325 |
6095-6103 |
JJ |
denotes |
European |
| T7326 |
6104-6111 |
NN |
denotes |
descent |
| T7327 |
6112-6115 |
WP |
denotes |
who |
| T7328 |
6116-6120 |
VBD |
denotes |
were |
| T7329 |
6121-6127 |
CC |
denotes |
either |
| T7330 |
6128-6136 |
NNS |
denotes |
controls |
| T7331 |
6137-6139 |
CC |
denotes |
or |
| T7332 |
6140-6151 |
NNS |
denotes |
individuals |
| T7333 |
6152-6156 |
IN |
denotes |
with |
| T7334 |
6157-6159 |
DT |
denotes |
an |
| T7335 |
6183-6191 |
NN |
denotes |
disorder |
| T7336 |
6160-6169 |
JJ |
denotes |
unrelated |
| T7337 |
6170-6182 |
JJ |
denotes |
neurological |
| T7338 |
6191-6192 |
. |
denotes |
. |
| T7339 |
6192-6460 |
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 |
6193-6195 |
PRP |
denotes |
We |
| T7341 |
6196-6202 |
VBD |
denotes |
failed |
| T7342 |
6304-6312 |
VB |
denotes |
identify |
| T7343 |
6203-6205 |
TO |
denotes |
to |
| T7344 |
6206-6210 |
VB |
denotes |
find |
| T7345 |
6211-6214 |
DT |
denotes |
any |
| T7346 |
6215-6224 |
NNS |
denotes |
deletions |
| T7347 |
6225-6234 |
VBG |
denotes |
affecting |
| T7348 |
6235-6238 |
DT |
denotes |
the |
| T7349 |
6246-6254 |
NN |
denotes |
sequence |
| T7350 |
6239-6245 |
NN |
denotes |
coding |
| T7351 |
6255-6257 |
IN |
denotes |
of |
| T7352 |
6258-6264 |
DT |
denotes |
either |
| T7353 |
6265-6269 |
NN |
denotes |
gene |
| T7354 |
6269-6271 |
, |
denotes |
, |
| T7355 |
6271-6276 |
NN |
denotes |
ITPR1 |
| T7356 |
6277-6279 |
CC |
denotes |
or |
| T7357 |
6280-6285 |
NN |
denotes |
SUMF1 |
| T7358 |
6285-6286 |
: |
denotes |
; |
| T7359 |
6287-6289 |
PRP |
denotes |
we |
| T7360 |
6290-6293 |
VBD |
denotes |
did |
| T7361 |
6293-6295 |
, |
denotes |
, |
| T7362 |
6295-6302 |
RB |
denotes |
however |
| T7363 |
6302-6304 |
, |
denotes |
, |
| T7364 |
6313-6314 |
DT |
denotes |
a |
| T7365 |
6322-6332 |
NN |
denotes |
individual |
| T7366 |
6315-6321 |
JJ |
denotes |
single |
| T7367 |
6333-6337 |
IN |
denotes |
with |
| T7368 |
6338-6339 |
DT |
denotes |
a |
| T7369 |
6362-6370 |
NN |
denotes |
deletion |
| T7370 |
6340-6348 |
JJ |
denotes |
possible |
| T7371 |
6349-6361 |
JJ |
denotes |
heterozygous |
| T7372 |
6371-6384 |
RB |
denotes |
approximately |
| T7373 |
6385-6386 |
CD |
denotes |
6 |
| T7374 |
6387-6389 |
NN |
denotes |
kb |
| T7375 |
6390-6392 |
IN |
denotes |
in |
| T7376 |
6393-6397 |
NN |
denotes |
size |
| T7377 |
6398-6404 |
IN |
denotes |
within |
| T7378 |
6405-6411 |
NN |
denotes |
intron |
| T7379 |
6412-6414 |
CD |
denotes |
40 |
| T7380 |
6414-6415 |
SYM |
denotes |
– |
| T7381 |
6415-6417 |
CD |
denotes |
41 |
| T7382 |
6418-6420 |
IN |
denotes |
of |
| T7383 |
6421-6426 |
NN |
denotes |
ITPR1 |
| T7384 |
6426-6428 |
, |
denotes |
, |
| T7385 |
6428-6430 |
RB |
denotes |
at |
| T7386 |
6437-6438 |
CD |
denotes |
5 |
| T7387 |
6431-6436 |
RBS |
denotes |
least |
| T7388 |
6439-6441 |
NN |
denotes |
kb |
| T7389 |
6442-6446 |
RB |
denotes |
away |
| T7390 |
6447-6451 |
IN |
denotes |
from |
| T7391 |
6452-6456 |
NN |
denotes |
exon |
| T7392 |
6457-6459 |
CD |
denotes |
40 |
| T7393 |
6459-6460 |
. |
denotes |
. |
| T7394 |
6460-6560 |
sentence |
denotes |
Given the location of this alteration it is unlikely to effect the expression or splicing of ITPR1. |
| T7395 |
6461-6466 |
VBN |
denotes |
Given |
| T7396 |
6502-6504 |
VBZ |
denotes |
is |
| T7397 |
6467-6470 |
DT |
denotes |
the |
| T7398 |
6471-6479 |
NN |
denotes |
location |
| T7399 |
6480-6482 |
IN |
denotes |
of |
| T7400 |
6483-6487 |
DT |
denotes |
this |
| T7401 |
6488-6498 |
NN |
denotes |
alteration |
| T7402 |
6499-6501 |
PRP |
denotes |
it |
| T7403 |
6505-6513 |
JJ |
denotes |
unlikely |
| T7404 |
6514-6516 |
TO |
denotes |
to |
| T7405 |
6517-6523 |
VB |
denotes |
effect |
| T7406 |
6524-6527 |
DT |
denotes |
the |
| T7407 |
6528-6538 |
NN |
denotes |
expression |
| T7408 |
6539-6541 |
CC |
denotes |
or |
| T7409 |
6542-6550 |
NN |
denotes |
splicing |
| T7410 |
6551-6553 |
IN |
denotes |
of |
| T7411 |
6554-6559 |
NN |
denotes |
ITPR1 |
| T7412 |
6559-6560 |
. |
denotes |
. |
| T7413 |
6560-9161 |
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 |
8940-8942 |
IN |
denotes |
In |
| T7415 |
9017-9026 |
VBD |
denotes |
performed |
| T7416 |
8943-8945 |
DT |
denotes |
an |
| T7417 |
8946-8953 |
NN |
denotes |
attempt |
| T7418 |
8954-8956 |
TO |
denotes |
to |
| T7419 |
8962-8965 |
VB |
denotes |
map |
| T7420 |
8957-8961 |
RB |
denotes |
fine |
| T7421 |
8961-8962 |
HYPH |
denotes |
- |
| T7422 |
8966-8969 |
DT |
denotes |
the |
| T7423 |
8970-8981 |
NNS |
denotes |
breakpoints |
| T7424 |
8982-8984 |
IN |
denotes |
of |
| T7425 |
8985-8988 |
DT |
denotes |
the |
| T7426 |
9005-9013 |
NN |
denotes |
deletion |
| T7427 |
8989-8996 |
NN |
denotes |
disease |
| T7428 |
8997-9004 |
VBG |
denotes |
causing |
| T7429 |
8996-8997 |
HYPH |
denotes |
- |
| T7430 |
9014-9016 |
PRP |
denotes |
we |
| T7431 |
9027-9028 |
DT |
denotes |
a |
| T7432 |
9029-9035 |
NN |
denotes |
series |
| T7433 |
9036-9038 |
IN |
denotes |
of |
| T7434 |
9039-9050 |
NNS |
denotes |
experiments |
| T7435 |
9051-9059 |
VBN |
denotes |
designed |
| T7436 |
9060-9062 |
TO |
denotes |
to |
| T7437 |
9063-9069 |
VB |
denotes |
refine |
| T7438 |
9070-9073 |
DT |
denotes |
the |
| T7439 |
9082-9091 |
NNS |
denotes |
intervals |
| T7440 |
9074-9081 |
JJ |
denotes |
unknown |
| T7441 |
9092-9094 |
IN |
denotes |
at |
| T7442 |
9095-9098 |
DT |
denotes |
the |
| T7443 |
9099-9104 |
NNS |
denotes |
edges |
| T7444 |
9105-9112 |
IN |
denotes |
between |
| T7445 |
9113-9121 |
JJ |
denotes |
definite |
| T7446 |
9122-9129 |
VBN |
denotes |
deleted |
| T7447 |
9151-9160 |
NNS |
denotes |
sequences |
| T7448 |
9130-9133 |
CC |
denotes |
and |
| T7449 |
9134-9142 |
JJ |
denotes |
definite |
| T7450 |
9143-9150 |
JJ |
denotes |
diploid |
| T7451 |
9160-9161 |
. |
denotes |
. |
| T7452 |
9161-9267 |
sentence |
denotes |
These data narrowed the unknown borders to ~4 kb on the telomeric side and ~7 kb on the centromeric side. |
| T7453 |
9162-9167 |
DT |
denotes |
These |
| T7454 |
9168-9172 |
NNS |
denotes |
data |
| T7455 |
9173-9181 |
VBD |
denotes |
narrowed |
| T7456 |
9182-9185 |
DT |
denotes |
the |
| T7457 |
9194-9201 |
NNS |
denotes |
borders |
| T7458 |
9186-9193 |
JJ |
denotes |
unknown |
| T7459 |
9202-9204 |
IN |
denotes |
to |
| T7460 |
9205-9206 |
SYM |
denotes |
~ |
| T7461 |
9206-9207 |
CD |
denotes |
4 |
| T7462 |
9208-9210 |
NN |
denotes |
kb |
| T7463 |
9211-9213 |
IN |
denotes |
on |
| T7464 |
9214-9217 |
DT |
denotes |
the |
| T7465 |
9228-9232 |
NN |
denotes |
side |
| T7466 |
9218-9227 |
JJ |
denotes |
telomeric |
| T7467 |
9233-9236 |
CC |
denotes |
and |
| T7468 |
9237-9238 |
SYM |
denotes |
~ |
| T7469 |
9238-9239 |
CD |
denotes |
7 |
| T7470 |
9240-9242 |
NN |
denotes |
kb |
| T7471 |
9243-9245 |
IN |
denotes |
on |
| T7472 |
9246-9249 |
DT |
denotes |
the |
| T7473 |
9262-9266 |
NN |
denotes |
side |
| T7474 |
9250-9261 |
JJ |
denotes |
centromeric |
| T7475 |
9266-9267 |
. |
denotes |
. |
| T7476 |
9267-9562 |
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 |
9268-9270 |
PRP |
denotes |
We |
| T7478 |
9271-9275 |
VBD |
denotes |
used |
| T7479 |
9276-9279 |
DT |
denotes |
all |
| T7480 |
9289-9301 |
NNS |
denotes |
combinations |
| T7481 |
9280-9288 |
JJ |
denotes |
possible |
| T7482 |
9302-9304 |
IN |
denotes |
of |
| T7483 |
9305-9312 |
JJ |
denotes |
forward |
| T7484 |
9313-9324 |
NN |
denotes |
orientation |
| T7485 |
9325-9332 |
NNS |
denotes |
primers |
| T7486 |
9333-9341 |
VBN |
denotes |
designed |
| T7487 |
9342-9348 |
IN |
denotes |
within |
| T7488 |
9349-9352 |
DT |
denotes |
the |
| T7489 |
9377-9385 |
NN |
denotes |
boundary |
| T7490 |
9353-9358 |
RB |
denotes |
newly |
| T7491 |
9359-9366 |
VBN |
denotes |
defined |
| T7492 |
9367-9376 |
JJ |
denotes |
telomeric |
| T7493 |
9386-9389 |
CC |
denotes |
and |
| T7494 |
9390-9392 |
IN |
denotes |
of |
| T7495 |
9393-9400 |
JJ |
denotes |
reverse |
| T7496 |
9401-9412 |
NN |
denotes |
orientation |
| T7497 |
9413-9420 |
NNS |
denotes |
primers |
| T7498 |
9421-9429 |
VBN |
denotes |
designed |
| T7499 |
9430-9436 |
IN |
denotes |
within |
| T7500 |
9437-9440 |
DT |
denotes |
the |
| T7501 |
9467-9475 |
NN |
denotes |
boundary |
| T7502 |
9441-9446 |
RB |
denotes |
newly |
| T7503 |
9447-9454 |
VBN |
denotes |
defined |
| T7504 |
9455-9466 |
JJ |
denotes |
centromeric |
| T7505 |
9476-9478 |
IN |
denotes |
in |
| T7506 |
9479-9482 |
NN |
denotes |
PCR |
| T7507 |
9483-9489 |
NNS |
denotes |
assays |
| T7508 |
9490-9492 |
IN |
denotes |
in |
| T7509 |
9493-9495 |
DT |
denotes |
an |
| T7510 |
9496-9503 |
NN |
denotes |
attempt |
| T7511 |
9504-9506 |
TO |
denotes |
to |
| T7512 |
9507-9514 |
VB |
denotes |
amplify |
| T7513 |
9515-9521 |
IN |
denotes |
across |
| T7514 |
9522-9525 |
DT |
denotes |
the |
| T7515 |
9526-9534 |
NN |
denotes |
deletion |
| T7516 |
9535-9537 |
IN |
denotes |
in |
| T7517 |
9538-9546 |
VBN |
denotes |
affected |
| T7518 |
9554-9561 |
NNS |
denotes |
members |
| T7519 |
9547-9553 |
NN |
denotes |
family |
| T7520 |
9561-9562 |
. |
denotes |
. |
| T7521 |
9562-9754 |
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 |
9563-9568 |
VBG |
denotes |
Using |
| T7523 |
9638-9642 |
VBD |
denotes |
were |
| T7524 |
9569-9572 |
NN |
denotes |
PCR |
| T7525 |
9573-9580 |
NNS |
denotes |
primers |
| T7526 |
9581-9584 |
NN |
denotes |
T3F |
| T7527 |
9585-9588 |
CC |
denotes |
and |
| T7528 |
9589-9593 |
NN |
denotes |
C11R |
| T7529 |
9593-9595 |
, |
denotes |
, |
| T7530 |
9595-9600 |
WDT |
denotes |
which |
| T7531 |
9608-9610 |
VB |
denotes |
be |
| T7532 |
9601-9607 |
MD |
denotes |
should |
| T7533 |
9611-9615 |
JJR |
denotes |
more |
| T7534 |
9621-9624 |
CD |
denotes |
200 |
| T7535 |
9616-9620 |
IN |
denotes |
than |
| T7536 |
9625-9627 |
NN |
denotes |
kb |
| T7537 |
9628-9633 |
RB |
denotes |
apart |
| T7538 |
9633-9635 |
, |
denotes |
, |
| T7539 |
9635-9637 |
PRP |
denotes |
we |
| T7540 |
9643-9647 |
JJ |
denotes |
able |
| T7541 |
9648-9650 |
TO |
denotes |
to |
| T7542 |
9651-9658 |
VB |
denotes |
amplify |
| T7543 |
9659-9660 |
DT |
denotes |
a |
| T7544 |
9661-9669 |
NN |
denotes |
fragment |
| T7545 |
9670-9673 |
CD |
denotes |
953 |
| T7546 |
9674-9676 |
NN |
denotes |
bp |
| T7547 |
9677-9679 |
IN |
denotes |
in |
| T7548 |
9680-9684 |
NN |
denotes |
size |
| T7549 |
9685-9690 |
VBG |
denotes |
using |
| T7550 |
9691-9694 |
NN |
denotes |
DNA |
| T7551 |
9695-9699 |
IN |
denotes |
from |
| T7552 |
9700-9704 |
DT |
denotes |
each |
| T7553 |
9705-9707 |
IN |
denotes |
of |
| T7554 |
9708-9711 |
DT |
denotes |
the |
| T7555 |
9734-9741 |
NNS |
denotes |
members |
| T7556 |
9712-9717 |
CD |
denotes |
three |
| T7557 |
9718-9726 |
VBN |
denotes |
affected |
| T7558 |
9727-9733 |
NN |
denotes |
family |
| T7559 |
9742-9744 |
IN |
denotes |
as |
| T7560 |
9745-9753 |
NN |
denotes |
template |
| T7561 |
9753-9754 |
. |
denotes |
. |
| T7562 |
9754-9925 |
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 |
9755-9765 |
NN |
denotes |
Sequencing |
| T7564 |
9783-9791 |
VBD |
denotes |
revealed |
| T7565 |
9766-9768 |
IN |
denotes |
of |
| T7566 |
9769-9773 |
DT |
denotes |
this |
| T7567 |
9774-9782 |
NN |
denotes |
fragment |
| T7568 |
9792-9793 |
DT |
denotes |
a |
| T7569 |
9794-9802 |
NN |
denotes |
deletion |
| T7570 |
9803-9805 |
IN |
denotes |
of |
| T7571 |
9806-9813 |
CD |
denotes |
201,509 |
| T7572 |
9814-9816 |
NN |
denotes |
bp |
| T7573 |
9817-9818 |
-LRB- |
denotes |
( |
| T7574 |
9825-9827 |
NN |
denotes |
S3 |
| T7575 |
9818-9824 |
NN |
denotes |
Figure |
| T7576 |
9827-9828 |
-RRB- |
denotes |
) |
| T7577 |
9828-9830 |
, |
denotes |
, |
| T7578 |
9830-9838 |
VBG |
denotes |
removing |
| T7579 |
9839-9842 |
DT |
denotes |
the |
| T7580 |
9849-9854 |
CD |
denotes |
three |
| T7581 |
9843-9848 |
JJ |
denotes |
first |
| T7582 |
9855-9857 |
IN |
denotes |
of |
| T7583 |
9858-9861 |
DT |
denotes |
the |
| T7584 |
9867-9872 |
NNS |
denotes |
exons |
| T7585 |
9862-9866 |
CD |
denotes |
nine |
| T7586 |
9873-9875 |
IN |
denotes |
of |
| T7587 |
9876-9881 |
NN |
denotes |
SUMF1 |
| T7588 |
9882-9885 |
CC |
denotes |
and |
| T7589 |
9886-9889 |
DT |
denotes |
the |
| T7590 |
9896-9899 |
CD |
denotes |
ten |
| T7591 |
9890-9895 |
JJ |
denotes |
first |
| T7592 |
9900-9902 |
IN |
denotes |
of |
| T7593 |
9903-9906 |
DT |
denotes |
the |
| T7594 |
9910-9915 |
NNS |
denotes |
exons |
| T7595 |
9907-9909 |
CD |
denotes |
58 |
| T7596 |
9916-9918 |
IN |
denotes |
of |
| T7597 |
9919-9924 |
NN |
denotes |
ITPR1 |
| T7598 |
9924-9925 |
. |
denotes |
. |
| T7599 |
9925-10074 |
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 |
9926-9928 |
PRP |
denotes |
We |
| T7601 |
9929-9933 |
VBD |
denotes |
were |
| T7602 |
9934-9940 |
JJ |
denotes |
unable |
| T7603 |
9941-9943 |
TO |
denotes |
to |
| T7604 |
9944-9951 |
VB |
denotes |
amplify |
| T7605 |
9952-9955 |
DT |
denotes |
the |
| T7606 |
9974-9982 |
NN |
denotes |
fragment |
| T7607 |
9956-9964 |
NN |
denotes |
deletion |
| T7608 |
9965-9973 |
JJ |
denotes |
specific |
| T7609 |
9964-9965 |
HYPH |
denotes |
- |
| T7610 |
9983-9985 |
IN |
denotes |
in |
| T7611 |
9986-9989 |
DT |
denotes |
the |
| T7612 |
9997-10003 |
NN |
denotes |
member |
| T7613 |
9990-9996 |
NN |
denotes |
family |
| T7614 |
10004-10006 |
IN |
denotes |
of |
| T7615 |
10007-10014 |
JJ |
denotes |
unknown |
| T7616 |
10025-10031 |
NN |
denotes |
status |
| T7617 |
10015-10024 |
NN |
denotes |
affection |
| T7618 |
10031-10033 |
, |
denotes |
, |
| T7619 |
10033-10035 |
CC |
denotes |
or |
| T7620 |
10036-10038 |
IN |
denotes |
in |
| T7621 |
10039-10042 |
CD |
denotes |
275 |
| T7622 |
10065-10073 |
NNS |
denotes |
controls |
| T7623 |
10043-10057 |
RB |
denotes |
neurologically |
| T7624 |
10058-10064 |
JJ |
denotes |
normal |
| T7625 |
10073-10074 |
. |
denotes |
. |
| T7626 |
10074-10326 |
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 |
10075-10077 |
TO |
denotes |
To |
| T7628 |
10086-10095 |
VB |
denotes |
establish |
| T7629 |
10078-10085 |
RB |
denotes |
further |
| T7630 |
10147-10155 |
VBD |
denotes |
analyzed |
| T7631 |
10096-10103 |
JJ |
denotes |
genetic |
| T7632 |
10104-10112 |
NN |
denotes |
deletion |
| T7633 |
10113-10115 |
IN |
denotes |
at |
| T7634 |
10116-10121 |
NN |
denotes |
ITPR1 |
| T7635 |
10122-10124 |
IN |
denotes |
as |
| T7636 |
10125-10128 |
DT |
denotes |
the |
| T7637 |
10129-10134 |
NN |
denotes |
cause |
| T7638 |
10135-10137 |
IN |
denotes |
of |
| T7639 |
10138-10143 |
NN |
denotes |
SCA15 |
| T7640 |
10144-10146 |
PRP |
denotes |
we |
| T7641 |
10156-10159 |
CD |
denotes |
two |
| T7642 |
10171-10179 |
NNS |
denotes |
families |
| T7643 |
10160-10170 |
JJ |
denotes |
additional |
| T7644 |
10180-10184 |
IN |
denotes |
with |
| T7645 |
10185-10187 |
DT |
denotes |
an |
| T7646 |
10209-10215 |
NN |
denotes |
ataxia |
| T7647 |
10188-10197 |
VBN |
denotes |
inherited |
| T7648 |
10198-10208 |
JJ |
denotes |
cerebellar |
| T7649 |
10216-10223 |
JJ |
denotes |
similar |
| T7650 |
10224-10226 |
IN |
denotes |
to |
| T7651 |
10227-10231 |
DT |
denotes |
that |
| T7652 |
10232-10241 |
VBN |
denotes |
described |
| T7653 |
10242-10244 |
IN |
denotes |
in |
| T7654 |
10245-10248 |
DT |
denotes |
the |
| T7655 |
10254-10260 |
NN |
denotes |
family |
| T7656 |
10249-10253 |
NN |
denotes |
AUS1 |
| T7657 |
10260-10262 |
, |
denotes |
, |
| T7658 |
10262-10273 |
VBN |
denotes |
ascertained |
| T7659 |
10274-10281 |
IN |
denotes |
through |
| T7660 |
10282-10291 |
NN |
denotes |
neurology |
| T7661 |
10292-10299 |
NNS |
denotes |
clinics |
| T7662 |
10300-10302 |
IN |
denotes |
in |
| T7663 |
10303-10309 |
NNP |
denotes |
London |
| T7664 |
10309-10311 |
, |
denotes |
, |
| T7665 |
10311-10317 |
NNP |
denotes |
United |
| T7666 |
10318-10325 |
NNP |
denotes |
Kingdom |
| T7667 |
10325-10326 |
. |
denotes |
. |
| T7668 |
10326-10479 |
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 |
10327-10330 |
NN |
denotes |
DNA |
| T7670 |
10417-10425 |
VBN |
denotes |
analyzed |
| T7671 |
10331-10340 |
VBN |
denotes |
extracted |
| T7672 |
10341-10345 |
IN |
denotes |
from |
| T7673 |
10346-10354 |
NNS |
denotes |
probands |
| T7674 |
10355-10359 |
IN |
denotes |
from |
| T7675 |
10360-10365 |
DT |
denotes |
these |
| T7676 |
10370-10378 |
NNS |
denotes |
families |
| T7677 |
10366-10369 |
CD |
denotes |
two |
| T7678 |
10379-10380 |
-LRB- |
denotes |
( |
| T7679 |
10387-10390 |
NN |
denotes |
H33 |
| T7680 |
10380-10386 |
NN |
denotes |
family |
| T7681 |
10391-10394 |
CC |
denotes |
and |
| T7682 |
10395-10401 |
NN |
denotes |
family |
| T7683 |
10402-10405 |
NN |
denotes |
H27 |
| T7684 |
10405-10406 |
-RRB- |
denotes |
) |
| T7685 |
10407-10411 |
VBD |
denotes |
were |
| T7686 |
10412-10416 |
RB |
denotes |
also |
| T7687 |
10426-10431 |
VBG |
denotes |
using |
| T7688 |
10432-10440 |
NNP |
denotes |
Illumina |
| T7689 |
10450-10461 |
NNP |
denotes |
HumanHap550 |
| T7690 |
10441-10449 |
NNP |
denotes |
Infinium |
| T7691 |
10473-10478 |
NNS |
denotes |
chips |
| T7692 |
10462-10472 |
NN |
denotes |
genotyping |
| T7693 |
10478-10479 |
. |
denotes |
. |
| T7694 |
10479-10591 |
sentence |
denotes |
These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1. |
| T7695 |
10480-10485 |
DT |
denotes |
These |
| T7696 |
10486-10497 |
NNS |
denotes |
experiments |
| T7697 |
10498-10504 |
VBD |
denotes |
showed |
| T7698 |
10505-10513 |
NN |
denotes |
deletion |
| T7699 |
10514-10516 |
IN |
denotes |
at |
| T7700 |
10517-10520 |
DT |
denotes |
the |
| T7701 |
10527-10532 |
NN |
denotes |
locus |
| T7702 |
10521-10526 |
NN |
denotes |
SCA15 |
| T7703 |
10533-10535 |
IN |
denotes |
in |
| T7704 |
10536-10539 |
DT |
denotes |
all |
| T7705 |
10549-10556 |
NNS |
denotes |
members |
| T7706 |
10540-10548 |
VBN |
denotes |
affected |
| T7707 |
10557-10564 |
VBN |
denotes |
assayed |
| T7708 |
10564-10566 |
, |
denotes |
, |
| T7709 |
10566-10570 |
IN |
denotes |
from |
| T7710 |
10571-10576 |
NN |
denotes |
SUMF1 |
| T7711 |
10577-10584 |
IN |
denotes |
through |
| T7712 |
10585-10590 |
NN |
denotes |
ITPR1 |
| T7713 |
10590-10591 |
. |
denotes |
. |
| T7714 |
10591-10666 |
sentence |
denotes |
These mutations segregated with disease in these two families (Figure S3). |
| T7715 |
10592-10597 |
DT |
denotes |
These |
| T7716 |
10598-10607 |
NNS |
denotes |
mutations |
| T7717 |
10608-10618 |
VBD |
denotes |
segregated |
| T7718 |
10619-10623 |
IN |
denotes |
with |
| T7719 |
10624-10631 |
NN |
denotes |
disease |
| T7720 |
10632-10634 |
IN |
denotes |
in |
| T7721 |
10635-10640 |
DT |
denotes |
these |
| T7722 |
10645-10653 |
NNS |
denotes |
families |
| T7723 |
10641-10644 |
CD |
denotes |
two |
| T7724 |
10654-10655 |
-LRB- |
denotes |
( |
| T7725 |
10662-10664 |
NN |
denotes |
S3 |
| T7726 |
10655-10661 |
NN |
denotes |
Figure |
| T7727 |
10664-10665 |
-RRB- |
denotes |
) |
| T7728 |
10665-10666 |
. |
denotes |
. |
| T7729 |
10666-10788 |
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 |
10667-10668 |
DT |
denotes |
A |
| T7731 |
10669-10677 |
NN |
denotes |
strategy |
| T7732 |
10712-10719 |
VBD |
denotes |
enabled |
| T7733 |
10678-10685 |
JJ |
denotes |
similar |
| T7734 |
10686-10688 |
IN |
denotes |
to |
| T7735 |
10689-10692 |
DT |
denotes |
the |
| T7736 |
10693-10696 |
CD |
denotes |
one |
| T7737 |
10697-10705 |
VBN |
denotes |
outlined |
| T7738 |
10706-10711 |
RB |
denotes |
above |
| T7739 |
10720-10722 |
PRP |
denotes |
us |
| T7740 |
10723-10725 |
TO |
denotes |
to |
| T7741 |
10726-10734 |
VB |
denotes |
sequence |
| T7742 |
10735-10739 |
IN |
denotes |
over |
| T7743 |
10740-10743 |
DT |
denotes |
the |
| T7744 |
10744-10754 |
NN |
denotes |
breakpoint |
| T7745 |
10755-10757 |
IN |
denotes |
in |
| T7746 |
10758-10764 |
NN |
denotes |
family |
| T7747 |
10765-10768 |
NN |
denotes |
H27 |
| T7748 |
10769-10772 |
CC |
denotes |
but |
| T7749 |
10773-10776 |
RB |
denotes |
not |
| T7750 |
10777-10783 |
NN |
denotes |
family |
| T7751 |
10784-10787 |
NN |
denotes |
H33 |
| T7752 |
10787-10788 |
. |
denotes |
. |
| T7753 |
10788-11010 |
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 |
10789-10791 |
IN |
denotes |
In |
| T7755 |
10817-10822 |
VBZ |
denotes |
spans |
| T7756 |
10792-10795 |
DT |
denotes |
the |
| T7757 |
10796-10802 |
JJ |
denotes |
former |
| T7758 |
10802-10804 |
, |
denotes |
, |
| T7759 |
10804-10807 |
DT |
denotes |
the |
| T7760 |
10808-10816 |
NN |
denotes |
deletion |
| T7761 |
10900-10908 |
VBP |
denotes |
estimate |
| T7762 |
10823-10830 |
CD |
denotes |
344,408 |
| T7763 |
10831-10833 |
NN |
denotes |
bp |
| T7764 |
10833-10835 |
, |
denotes |
, |
| T7765 |
10835-10843 |
VBG |
denotes |
removing |
| T7766 |
10844-10849 |
NNS |
denotes |
exons |
| T7767 |
10850-10851 |
CD |
denotes |
1 |
| T7768 |
10851-10852 |
SYM |
denotes |
– |
| T7769 |
10852-10853 |
CD |
denotes |
3 |
| T7770 |
10854-10856 |
IN |
denotes |
of |
| T7771 |
10857-10862 |
NN |
denotes |
SUMF1 |
| T7772 |
10863-10866 |
CC |
denotes |
and |
| T7773 |
10867-10868 |
CD |
denotes |
1 |
| T7774 |
10868-10869 |
SYM |
denotes |
– |
| T7775 |
10869-10871 |
CD |
denotes |
44 |
| T7776 |
10872-10874 |
IN |
denotes |
of |
| T7777 |
10875-10880 |
NN |
denotes |
ITPR1 |
| T7778 |
10880-10881 |
: |
denotes |
; |
| T7779 |
10882-10884 |
IN |
denotes |
in |
| T7780 |
10885-10888 |
DT |
denotes |
the |
| T7781 |
10889-10895 |
JJ |
denotes |
latter |
| T7782 |
10895-10897 |
, |
denotes |
, |
| T7783 |
10897-10899 |
PRP |
denotes |
we |
| T7784 |
10909-10913 |
IN |
denotes |
that |
| T7785 |
10927-10929 |
VBZ |
denotes |
is |
| T7786 |
10914-10917 |
DT |
denotes |
the |
| T7787 |
10918-10926 |
NN |
denotes |
deletion |
| T7788 |
10930-10933 |
CD |
denotes |
310 |
| T7789 |
10934-10936 |
NN |
denotes |
kb |
| T7790 |
10937-10939 |
IN |
denotes |
in |
| T7791 |
10940-10946 |
NN |
denotes |
length |
| T7792 |
10947-10950 |
CC |
denotes |
and |
| T7793 |
10951-10955 |
IN |
denotes |
that |
| T7794 |
10959-10966 |
VBZ |
denotes |
removes |
| T7795 |
10956-10958 |
PRP |
denotes |
it |
| T7796 |
10967-10972 |
NNS |
denotes |
exons |
| T7797 |
10973-10974 |
CD |
denotes |
1 |
| T7798 |
10974-10975 |
SYM |
denotes |
– |
| T7799 |
10975-10976 |
CD |
denotes |
3 |
| T7800 |
10977-10979 |
IN |
denotes |
of |
| T7801 |
10980-10985 |
NN |
denotes |
SUMF1 |
| T7802 |
10986-10989 |
CC |
denotes |
and |
| T7803 |
10990-10995 |
NNS |
denotes |
exons |
| T7804 |
10996-10997 |
CD |
denotes |
1 |
| T7805 |
10997-10998 |
SYM |
denotes |
– |
| T7806 |
10998-11000 |
CD |
denotes |
40 |
| T7807 |
11001-11003 |
IN |
denotes |
of |
| T7808 |
11004-11009 |
NN |
denotes |
ITPR1 |
| T7809 |
11009-11010 |
. |
denotes |
. |
| T7810 |
11010-11276 |
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 |
11011-11014 |
DT |
denotes |
The |
| T7812 |
11015-11019 |
NN |
denotes |
site |
| T7813 |
11032-11034 |
VBZ |
denotes |
is |
| T7814 |
11020-11022 |
IN |
denotes |
of |
| T7815 |
11023-11031 |
NN |
denotes |
mutation |
| T7816 |
11201-11207 |
VBD |
denotes |
failed |
| T7817 |
11035-11037 |
IN |
denotes |
of |
| T7818 |
11038-11046 |
NN |
denotes |
interest |
| T7819 |
11046-11048 |
, |
denotes |
, |
| T7820 |
11048-11060 |
RB |
denotes |
particularly |
| T7821 |
11065-11069 |
NN |
denotes |
fact |
| T7822 |
11061-11064 |
DT |
denotes |
the |
| T7823 |
11070-11074 |
IN |
denotes |
that |
| T7824 |
11142-11150 |
VBN |
denotes |
anchored |
| T7825 |
11075-11077 |
IN |
denotes |
in |
| T7826 |
11078-11082 |
DT |
denotes |
each |
| T7827 |
11083-11085 |
IN |
denotes |
of |
| T7828 |
11086-11089 |
DT |
denotes |
the |
| T7829 |
11096-11104 |
NNS |
denotes |
families |
| T7830 |
11090-11095 |
CD |
denotes |
three |
| T7831 |
11105-11108 |
DT |
denotes |
the |
| T7832 |
11119-11122 |
NN |
denotes |
end |
| T7833 |
11109-11118 |
JJ |
denotes |
telomeric |
| T7834 |
11123-11125 |
IN |
denotes |
of |
| T7835 |
11126-11129 |
DT |
denotes |
the |
| T7836 |
11130-11138 |
NN |
denotes |
deletion |
| T7837 |
11139-11141 |
VBZ |
denotes |
is |
| T7838 |
11151-11158 |
IN |
denotes |
between |
| T7839 |
11159-11164 |
NNS |
denotes |
exons |
| T7840 |
11165-11166 |
CD |
denotes |
3 |
| T7841 |
11167-11170 |
CC |
denotes |
and |
| T7842 |
11171-11172 |
CD |
denotes |
4 |
| T7843 |
11173-11175 |
IN |
denotes |
of |
| T7844 |
11176-11181 |
NN |
denotes |
SUMF1 |
| T7845 |
11181-11182 |
: |
denotes |
; |
| T7846 |
11183-11191 |
NN |
denotes |
sequence |
| T7847 |
11192-11200 |
NNS |
denotes |
searches |
| T7848 |
11208-11210 |
TO |
denotes |
to |
| T7849 |
11211-11219 |
VB |
denotes |
identify |
| T7850 |
11220-11223 |
DT |
denotes |
any |
| T7851 |
11231-11240 |
NNS |
denotes |
sequences |
| T7852 |
11224-11230 |
NN |
denotes |
repeat |
| T7853 |
11241-11245 |
WDT |
denotes |
that |
| T7854 |
11252-11259 |
VB |
denotes |
explain |
| T7855 |
11246-11251 |
MD |
denotes |
might |
| T7856 |
11260-11264 |
DT |
denotes |
this |
| T7857 |
11265-11275 |
NN |
denotes |
phenomenon |
| T7858 |
11275-11276 |
. |
denotes |
. |
| T7859 |
11276-11627 |
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 |
11277-11281 |
IN |
denotes |
With |
| T7861 |
11425-11433 |
VB |
denotes |
conclude |
| T7862 |
11282-11287 |
CD |
denotes |
three |
| T7863 |
11306-11314 |
NNS |
denotes |
families |
| T7864 |
11288-11298 |
JJ |
denotes |
cerebellar |
| T7865 |
11299-11305 |
NN |
denotes |
ataxia |
| T7866 |
11315-11326 |
VBG |
denotes |
segregating |
| T7867 |
11327-11328 |
DT |
denotes |
a |
| T7868 |
11341-11349 |
NN |
denotes |
deletion |
| T7869 |
11329-11334 |
NN |
denotes |
SUMF1 |
| T7870 |
11335-11340 |
NN |
denotes |
ITPR1 |
| T7871 |
11334-11335 |
HYPH |
denotes |
– |
| T7872 |
11349-11351 |
, |
denotes |
, |
| T7873 |
11351-11354 |
CC |
denotes |
and |
| T7874 |
11355-11359 |
DT |
denotes |
this |
| T7875 |
11360-11368 |
NN |
denotes |
deletion |
| T7876 |
11369-11372 |
RB |
denotes |
not |
| T7877 |
11373-11381 |
VBN |
denotes |
observed |
| T7878 |
11382-11384 |
IN |
denotes |
in |
| T7879 |
11385-11386 |
DT |
denotes |
a |
| T7880 |
11395-11405 |
NN |
denotes |
population |
| T7881 |
11387-11394 |
NN |
denotes |
control |
| T7882 |
11405-11407 |
, |
denotes |
, |
| T7883 |
11407-11409 |
PRP |
denotes |
we |
| T7884 |
11410-11413 |
MD |
denotes |
may |
| T7885 |
11414-11424 |
RB |
denotes |
reasonably |
| T7886 |
11434-11438 |
IN |
denotes |
that |
| T7887 |
11455-11457 |
VBZ |
denotes |
is |
| T7888 |
11439-11442 |
DT |
denotes |
the |
| T7889 |
11443-11454 |
NN |
denotes |
association |
| T7890 |
11458-11464 |
JJ |
denotes |
causal |
| T7891 |
11464-11466 |
, |
denotes |
, |
| T7892 |
11466-11469 |
CC |
denotes |
and |
| T7893 |
11470-11474 |
IN |
denotes |
that |
| T7894 |
11488-11490 |
VBZ |
denotes |
is |
| T7895 |
11475-11478 |
DT |
denotes |
the |
| T7896 |
11479-11487 |
NN |
denotes |
deletion |
| T7897 |
11491-11497 |
RB |
denotes |
indeed |
| T7898 |
11498-11501 |
DT |
denotes |
the |
| T7899 |
11510-11515 |
NN |
denotes |
basis |
| T7900 |
11502-11509 |
JJ |
denotes |
genetic |
| T7901 |
11516-11518 |
IN |
denotes |
of |
| T7902 |
11519-11522 |
DT |
denotes |
the |
| T7903 |
11523-11530 |
NN |
denotes |
disease |
| T7904 |
11530-11532 |
, |
denotes |
, |
| T7905 |
11532-11536 |
IN |
denotes |
with |
| T7906 |
11547-11556 |
NN |
denotes |
diagnosis |
| T7907 |
11537-11542 |
NN |
denotes |
SCA15 |
| T7908 |
11543-11546 |
DT |
denotes |
the |
| T7909 |
11557-11559 |
IN |
denotes |
in |
| T7910 |
11560-11563 |
DT |
denotes |
the |
| T7911 |
11576-11584 |
NNS |
denotes |
families |
| T7912 |
11564-11567 |
CD |
denotes |
two |
| T7913 |
11568-11575 |
JJ |
denotes |
British |
| T7914 |
11585-11587 |
RB |
denotes |
as |
| T7915 |
11593-11595 |
IN |
denotes |
as |
| T7916 |
11588-11592 |
RB |
denotes |
well |
| T7917 |
11596-11599 |
DT |
denotes |
the |
| T7918 |
11620-11626 |
NN |
denotes |
family |
| T7919 |
11600-11608 |
JJ |
denotes |
original |
| T7920 |
11609-11619 |
JJ |
denotes |
Australian |
| T7921 |
11626-11627 |
. |
denotes |
. |
| T7922 |
11627-11772 |
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 |
11628-11630 |
PRP |
denotes |
It |
| T7924 |
11631-11633 |
VBZ |
denotes |
is |
| T7925 |
11634-11644 |
JJ |
denotes |
improbable |
| T7926 |
11645-11649 |
IN |
denotes |
that |
| T7927 |
11741-11747 |
VBZ |
denotes |
causes |
| T7928 |
11650-11664 |
NN |
denotes |
heterozygosity |
| T7929 |
11665-11668 |
IN |
denotes |
for |
| T7930 |
11669-11672 |
DT |
denotes |
the |
| T7931 |
11673-11681 |
NN |
denotes |
deletion |
| T7932 |
11682-11684 |
IN |
denotes |
of |
| T7933 |
11685-11690 |
NN |
denotes |
SUMF1 |
| T7934 |
11690-11692 |
, |
denotes |
, |
| T7935 |
11692-11700 |
VBG |
denotes |
encoding |
| T7936 |
11701-11710 |
NN |
denotes |
sulfatase |
| T7937 |
11721-11727 |
NN |
denotes |
factor |
| T7938 |
11711-11720 |
VBG |
denotes |
modifying |
| T7939 |
11728-11729 |
CD |
denotes |
1 |
| T7940 |
11729-11731 |
, |
denotes |
, |
| T7941 |
11731-11733 |
IN |
denotes |
of |
| T7942 |
11734-11740 |
PRP |
denotes |
itself |
| T7943 |
11748-11750 |
CC |
denotes |
or |
| T7944 |
11751-11762 |
VBZ |
denotes |
contributes |
| T7945 |
11763-11765 |
IN |
denotes |
to |
| T7946 |
11766-11771 |
NN |
denotes |
SCA15 |
| T7947 |
11771-11772 |
. |
denotes |
. |
| T7948 |
11772-11962 |
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 |
11773-11783 |
JJ |
denotes |
Homozygous |
| T7950 |
11784-11792 |
NN |
denotes |
mutation |
| T7951 |
11802-11809 |
VBZ |
denotes |
results |
| T7952 |
11793-11795 |
IN |
denotes |
of |
| T7953 |
11796-11801 |
NN |
denotes |
SUMF1 |
| T7954 |
11810-11812 |
IN |
denotes |
in |
| T7955 |
11813-11822 |
JJ |
denotes |
autosomal |
| T7956 |
11852-11862 |
NN |
denotes |
deficiency |
| T7957 |
11823-11832 |
JJ |
denotes |
recessive |
| T7958 |
11833-11841 |
JJ |
denotes |
multiple |
| T7959 |
11842-11851 |
NN |
denotes |
sulfatase |
| T7960 |
11862-11864 |
, |
denotes |
, |
| T7961 |
11864-11865 |
DT |
denotes |
a |
| T7962 |
11876-11884 |
NN |
denotes |
disorder |
| T7963 |
11866-11875 |
JJ |
denotes |
metabolic |
| T7964 |
11885-11898 |
VBN |
denotes |
characterized |
| T7965 |
11899-11901 |
IN |
denotes |
by |
| T7966 |
11902-11920 |
NN |
denotes |
hepatosplenomegaly |
| T7967 |
11920-11922 |
, |
denotes |
, |
| T7968 |
11922-11930 |
NN |
denotes |
deafness |
| T7969 |
11930-11932 |
, |
denotes |
, |
| T7970 |
11932-11935 |
CC |
denotes |
and |
| T7971 |
11936-11949 |
JJ |
denotes |
developmental |
| T7972 |
11950-11955 |
NN |
denotes |
delay |
| T7973 |
11956-11957 |
-LRB- |
denotes |
[ |
| T7974 |
11959-11960 |
CD |
denotes |
7 |
| T7975 |
11957-11958 |
CD |
denotes |
6 |
| T7976 |
11958-11959 |
, |
denotes |
, |
| T7977 |
11960-11961 |
-RRB- |
denotes |
] |
| T7978 |
11961-11962 |
. |
denotes |
. |
| T7979 |
11962-12082 |
sentence |
denotes |
No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency. |
| T7980 |
11963-11965 |
DT |
denotes |
No |
| T7981 |
11966-11979 |
NN |
denotes |
co-occurrence |
| T7982 |
11999-12008 |
VBN |
denotes |
described |
| T7983 |
11980-11982 |
IN |
denotes |
of |
| T7984 |
11983-11989 |
NN |
denotes |
ataxia |
| T7985 |
11990-11993 |
VBZ |
denotes |
has |
| T7986 |
11994-11998 |
VBN |
denotes |
been |
| T7987 |
12009-12011 |
IN |
denotes |
in |
| T7988 |
12012-12013 |
-LRB- |
denotes |
( |
| T7989 |
12027-12034 |
NNS |
denotes |
parents |
| T7990 |
12013-12025 |
JJ |
denotes |
heterozygous |
| T7991 |
12025-12026 |
-RRB- |
denotes |
) |
| T7992 |
12035-12037 |
IN |
denotes |
of |
| T7993 |
12038-12046 |
NNS |
denotes |
patients |
| T7994 |
12047-12051 |
IN |
denotes |
with |
| T7995 |
12052-12060 |
JJ |
denotes |
multiple |
| T7996 |
12071-12081 |
NN |
denotes |
deficiency |
| T7997 |
12061-12070 |
NN |
denotes |
sulfatase |
| T7998 |
12081-12082 |
. |
denotes |
. |
| T7999 |
12082-12423 |
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 |
12083-12093 |
RB |
denotes |
Conversely |
| T8001 |
12268-12275 |
VBP |
denotes |
present |
| T8002 |
12093-12095 |
, |
denotes |
, |
| T8003 |
12095-12103 |
NN |
denotes |
mutation |
| T8004 |
12113-12115 |
VBZ |
denotes |
is |
| T8005 |
12104-12106 |
IN |
denotes |
of |
| T8006 |
12107-12112 |
NN |
denotes |
ITPR1 |
| T8007 |
12116-12128 |
RB |
denotes |
biologically |
| T8008 |
12129-12138 |
JJ |
denotes |
plausible |
| T8009 |
12139-12141 |
IN |
denotes |
as |
| T8010 |
12142-12143 |
DT |
denotes |
a |
| T8011 |
12144-12149 |
NN |
denotes |
cause |
| T8012 |
12150-12152 |
IN |
denotes |
of |
| T8013 |
12153-12159 |
NN |
denotes |
ataxia |
| T8014 |
12159-12161 |
: |
denotes |
: |
| T8015 |
12161-12164 |
DT |
denotes |
the |
| T8016 |
12165-12172 |
NN |
denotes |
protein |
| T8017 |
12183-12192 |
VBN |
denotes |
expressed |
| T8018 |
12173-12175 |
VBZ |
denotes |
is |
| T8019 |
12176-12182 |
RB |
denotes |
highly |
| T8020 |
12193-12195 |
IN |
denotes |
in |
| T8021 |
12196-12204 |
NNP |
denotes |
Purkinje |
| T8022 |
12205-12210 |
NNS |
denotes |
cells |
| T8023 |
12210-12211 |
: |
denotes |
; |
| T8024 |
12212-12214 |
IN |
denotes |
as |
| T8025 |
12223-12228 |
VBN |
denotes |
shown |
| T8026 |
12215-12217 |
PRP |
denotes |
we |
| T8027 |
12218-12222 |
VBP |
denotes |
have |
| T8028 |
12229-12233 |
RB |
denotes |
here |
| T8029 |
12233-12235 |
, |
denotes |
, |
| T8030 |
12235-12239 |
NNS |
denotes |
mice |
| T8031 |
12240-12244 |
IN |
denotes |
with |
| T8032 |
12245-12253 |
NN |
denotes |
mutation |
| T8033 |
12254-12256 |
IN |
denotes |
at |
| T8034 |
12257-12261 |
DT |
denotes |
this |
| T8035 |
12262-12267 |
NN |
denotes |
locus |
| T8036 |
12276-12280 |
IN |
denotes |
with |
| T8037 |
12281-12287 |
NN |
denotes |
ataxia |
| T8038 |
12287-12288 |
: |
denotes |
; |
| T8039 |
12289-12292 |
CC |
denotes |
and |
| T8040 |
12293-12302 |
VBN |
denotes |
perturbed |
| T8041 |
12308-12317 |
NN |
denotes |
signaling |
| T8042 |
12303-12307 |
NN |
denotes |
Ca2+ |
| T8043 |
12338-12348 |
VBN |
denotes |
implicated |
| T8044 |
12318-12321 |
VBZ |
denotes |
has |
| T8045 |
12322-12332 |
RB |
denotes |
previously |
| T8046 |
12333-12337 |
VBN |
denotes |
been |
| T8047 |
12349-12351 |
IN |
denotes |
in |
| T8048 |
12352-12355 |
DT |
denotes |
the |
| T8049 |
12356-12364 |
NN |
denotes |
etiology |
| T8050 |
12365-12367 |
IN |
denotes |
of |
| T8051 |
12368-12374 |
NN |
denotes |
ataxia |
| T8052 |
12374-12376 |
, |
denotes |
, |
| T8053 |
12376-12383 |
RB |
denotes |
notably |
| T8054 |
12384-12386 |
IN |
denotes |
in |
| T8055 |
12387-12395 |
JJ |
denotes |
episodic |
| T8056 |
12403-12407 |
NN |
denotes |
type |
| T8057 |
12396-12402 |
NN |
denotes |
ataxia |
| T8058 |
12408-12409 |
CD |
denotes |
2 |
| T8059 |
12410-12413 |
CC |
denotes |
and |
| T8060 |
12414-12418 |
NN |
denotes |
SCA6 |
| T8061 |
12419-12420 |
-LRB- |
denotes |
[ |
| T8062 |
12420-12421 |
CD |
denotes |
8 |
| T8063 |
12421-12422 |
-RRB- |
denotes |
] |
| T8064 |
12422-12423 |
. |
denotes |
. |
| T8065 |
12423-12748 |
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 |
12424-12426 |
IN |
denotes |
In |
| T8067 |
12601-12609 |
VBD |
denotes |
revealed |
| T8068 |
12427-12434 |
JJ |
denotes |
further |
| T8069 |
12435-12442 |
NN |
denotes |
support |
| T8070 |
12443-12445 |
IN |
denotes |
of |
| T8071 |
12446-12450 |
DT |
denotes |
this |
| T8072 |
12451-12461 |
NN |
denotes |
conclusion |
| T8073 |
12461-12463 |
, |
denotes |
, |
| T8074 |
12463-12471 |
NN |
denotes |
analysis |
| T8075 |
12472-12474 |
IN |
denotes |
of |
| T8076 |
12475-12482 |
NN |
denotes |
protein |
| T8077 |
12483-12489 |
NNS |
denotes |
levels |
| T8078 |
12490-12492 |
IN |
denotes |
of |
| T8079 |
12493-12498 |
NN |
denotes |
ITPR1 |
| T8080 |
12499-12501 |
IN |
denotes |
in |
| T8081 |
12502-12509 |
NN |
denotes |
Epstein |
| T8082 |
12510-12514 |
NN |
denotes |
Barr |
| T8083 |
12509-12510 |
HYPH |
denotes |
- |
| T8084 |
12515-12520 |
NN |
denotes |
virus |
| T8085 |
12540-12551 |
NNS |
denotes |
lymphocytes |
| T8086 |
12521-12522 |
-LRB- |
denotes |
( |
| T8087 |
12522-12525 |
NN |
denotes |
EBV |
| T8088 |
12525-12526 |
-RRB- |
denotes |
) |
| T8089 |
12527-12539 |
VBN |
denotes |
immortalized |
| T8090 |
12552-12556 |
IN |
denotes |
from |
| T8091 |
12557-12565 |
VBN |
denotes |
affected |
| T8092 |
12593-12600 |
NNS |
denotes |
members |
| T8093 |
12566-12569 |
CC |
denotes |
and |
| T8094 |
12570-12580 |
JJ |
denotes |
unaffected |
| T8095 |
12581-12585 |
NN |
denotes |
AUS1 |
| T8096 |
12586-12592 |
NN |
denotes |
family |
| T8097 |
12610-12614 |
IN |
denotes |
that |
| T8098 |
12636-12642 |
VBD |
denotes |
showed |
| T8099 |
12615-12618 |
DT |
denotes |
all |
| T8100 |
12628-12635 |
NNS |
denotes |
members |
| T8101 |
12619-12627 |
VBN |
denotes |
affected |
| T8102 |
12643-12644 |
DT |
denotes |
a |
| T8103 |
12654-12662 |
NN |
denotes |
decrease |
| T8104 |
12645-12653 |
JJ |
denotes |
dramatic |
| T8105 |
12663-12665 |
IN |
denotes |
in |
| T8106 |
12666-12671 |
NN |
denotes |
ITPR1 |
| T8107 |
12672-12678 |
NNS |
denotes |
levels |
| T8108 |
12679-12683 |
WRB |
denotes |
when |
| T8109 |
12684-12692 |
VBN |
denotes |
compared |
| T8110 |
12693-12697 |
IN |
denotes |
with |
| T8111 |
12698-12701 |
DT |
denotes |
the |
| T8112 |
12709-12715 |
NN |
denotes |
member |
| T8113 |
12702-12708 |
NN |
denotes |
family |
| T8114 |
12716-12723 |
IN |
denotes |
without |
| T8115 |
12724-12727 |
DT |
denotes |
the |
| T8116 |
12728-12736 |
NN |
denotes |
deletion |
| T8117 |
12737-12738 |
-LRB- |
denotes |
( |
| T8118 |
12738-12744 |
NN |
denotes |
Figure |
| T8119 |
12745-12746 |
CD |
denotes |
4 |
| T8120 |
12746-12747 |
-RRB- |
denotes |
) |
| T8121 |
12747-12748 |
. |
denotes |
. |
| T8122 |
12748-13550 |
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 |
13326-13331 |
NN |
denotes |
Itpr1 |
| T8124 |
13332-13340 |
VBZ |
denotes |
contains |
| T8125 |
13474-13482 |
VBZ |
denotes |
contains |
| T8126 |
13341-13346 |
CD |
denotes |
three |
| T8127 |
13347-13354 |
NNS |
denotes |
domains |
| T8128 |
13354-13356 |
, |
denotes |
, |
| T8129 |
13356-13358 |
DT |
denotes |
an |
| T8130 |
13400-13406 |
NN |
denotes |
domain |
| T8131 |
13359-13360 |
NN |
denotes |
N |
| T8132 |
13361-13369 |
JJ |
denotes |
terminal |
| T8133 |
13360-13361 |
HYPH |
denotes |
- |
| T8134 |
13370-13378 |
NN |
denotes |
inositol |
| T8135 |
13379-13391 |
NN |
denotes |
triphosphate |
| T8136 |
13392-13399 |
NN |
denotes |
binding |
| T8137 |
13406-13408 |
, |
denotes |
, |
| T8138 |
13408-13409 |
DT |
denotes |
a |
| T8139 |
13419-13425 |
NN |
denotes |
domain |
| T8140 |
13410-13418 |
VBG |
denotes |
coupling |
| T8141 |
13425-13427 |
, |
denotes |
, |
| T8142 |
13427-13430 |
CC |
denotes |
and |
| T8143 |
13431-13432 |
DT |
denotes |
a |
| T8144 |
13458-13464 |
NN |
denotes |
domain |
| T8145 |
13433-13434 |
NN |
denotes |
C |
| T8146 |
13435-13443 |
JJ |
denotes |
terminal |
| T8147 |
13434-13435 |
HYPH |
denotes |
- |
| T8148 |
13444-13457 |
NN |
denotes |
transmembrane |
| T8149 |
13464-13465 |
: |
denotes |
; |
| T8150 |
13466-13468 |
PRP |
denotes |
it |
| T8151 |
13469-13473 |
RB |
denotes |
also |
| T8152 |
13483-13486 |
CD |
denotes |
two |
| T8153 |
13520-13525 |
NNS |
denotes |
sites |
| T8154 |
13487-13494 |
NN |
denotes |
protein |
| T8155 |
13502-13503 |
NN |
denotes |
A |
| T8156 |
13495-13501 |
NN |
denotes |
kinase |
| T8157 |
13504-13519 |
NN |
denotes |
phosphorylation |
| T8158 |
13526-13529 |
CC |
denotes |
and |
| T8159 |
13530-13532 |
DT |
denotes |
an |
| T8160 |
13545-13549 |
NN |
denotes |
site |
| T8161 |
13533-13536 |
NN |
denotes |
ATP |
| T8162 |
13537-13544 |
VBG |
denotes |
binding |
| T8163 |
13536-13537 |
HYPH |
denotes |
- |
| T8164 |
13549-13550 |
. |
denotes |
. |
| T8165 |
13550-13729 |
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 |
13551-13556 |
NN |
denotes |
Itpr1 |
| T8167 |
13560-13567 |
VBN |
denotes |
coupled |
| T8168 |
13557-13559 |
VBZ |
denotes |
is |
| T8169 |
13568-13570 |
IN |
denotes |
to |
| T8170 |
13571-13575 |
NN |
denotes |
Ca2+ |
| T8171 |
13576-13584 |
NNS |
denotes |
channels |
| T8172 |
13585-13588 |
CC |
denotes |
and |
| T8173 |
13589-13600 |
VBZ |
denotes |
facilitates |
| T8174 |
13601-13605 |
NN |
denotes |
Ca2+ |
| T8175 |
13606-13613 |
NN |
denotes |
release |
| T8176 |
13614-13618 |
IN |
denotes |
from |
| T8177 |
13619-13622 |
DT |
denotes |
the |
| T8178 |
13635-13644 |
NN |
denotes |
reticulum |
| T8179 |
13623-13634 |
JJ |
denotes |
endoplasmic |
| T8180 |
13645-13650 |
IN |
denotes |
after |
| T8181 |
13651-13658 |
NN |
denotes |
binding |
| T8182 |
13659-13661 |
IN |
denotes |
by |
| T8183 |
13662-13665 |
DT |
denotes |
the |
| T8184 |
13687-13696 |
NN |
denotes |
messenger |
| T8185 |
13666-13679 |
JJ |
denotes |
intracellular |
| T8186 |
13680-13686 |
JJ |
denotes |
second |
| T8187 |
13697-13705 |
NN |
denotes |
inositol |
| T8188 |
13712-13724 |
NN |
denotes |
triphosphate |
| T8189 |
13706-13707 |
CD |
denotes |
1 |
| T8190 |
13710-13711 |
CD |
denotes |
5 |
| T8191 |
13707-13708 |
, |
denotes |
, |
| T8192 |
13708-13709 |
CD |
denotes |
4 |
| T8193 |
13709-13710 |
, |
denotes |
, |
| T8194 |
13711-13712 |
HYPH |
denotes |
- |
| T8195 |
13725-13726 |
-LRB- |
denotes |
[ |
| T8196 |
13726-13727 |
CD |
denotes |
9 |
| T8197 |
13727-13728 |
-RRB- |
denotes |
] |
| T8198 |
13728-13729 |
. |
denotes |
. |
| T8199 |
13729-13792 |
sentence |
denotes |
Itpr1 is enriched in the Purkinje cells of the cerebellum [4]. |
| T8200 |
13730-13735 |
NN |
denotes |
Itpr1 |
| T8201 |
13739-13747 |
VBN |
denotes |
enriched |
| T8202 |
13736-13738 |
VBZ |
denotes |
is |
| T8203 |
13748-13750 |
IN |
denotes |
in |
| T8204 |
13751-13754 |
DT |
denotes |
the |
| T8205 |
13764-13769 |
NNS |
denotes |
cells |
| T8206 |
13755-13763 |
NNP |
denotes |
Purkinje |
| T8207 |
13770-13772 |
IN |
denotes |
of |
| T8208 |
13773-13776 |
DT |
denotes |
the |
| T8209 |
13777-13787 |
NN |
denotes |
cerebellum |
| T8210 |
13788-13789 |
-LRB- |
denotes |
[ |
| T8211 |
13789-13790 |
CD |
denotes |
4 |
| T8212 |
13790-13791 |
-RRB- |
denotes |
] |
| T8213 |
13791-13792 |
. |
denotes |
. |
| T8214 |
13792-13859 |
sentence |
denotes |
ITPR1 mutations have more than one potential pathogenic mechanism. |
| T8215 |
13793-13798 |
NN |
denotes |
ITPR1 |
| T8216 |
13799-13808 |
NNS |
denotes |
mutations |
| T8217 |
13809-13813 |
VBP |
denotes |
have |
| T8218 |
13814-13818 |
JJR |
denotes |
more |
| T8219 |
13824-13827 |
CD |
denotes |
one |
| T8220 |
13819-13823 |
IN |
denotes |
than |
| T8221 |
13849-13858 |
NN |
denotes |
mechanism |
| T8222 |
13828-13837 |
JJ |
denotes |
potential |
| T8223 |
13838-13848 |
JJ |
denotes |
pathogenic |
| T8224 |
13858-13859 |
. |
denotes |
. |
| T8225 |
13859-14183 |
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 |
13860-13865 |
RB |
denotes |
First |
| T8227 |
13940-13942 |
VBZ |
denotes |
is |
| T8228 |
13865-13867 |
, |
denotes |
, |
| T8229 |
13867-13870 |
DT |
denotes |
the |
| T8230 |
13871-13878 |
NN |
denotes |
disease |
| T8231 |
13883-13885 |
VB |
denotes |
be |
| T8232 |
13879-13882 |
MD |
denotes |
may |
| T8233 |
13886-13887 |
DT |
denotes |
a |
| T8234 |
13888-13894 |
NN |
denotes |
result |
| T8235 |
13895-13897 |
IN |
denotes |
of |
| T8236 |
13898-13916 |
NN |
denotes |
haploinsufficiency |
| T8237 |
13917-13919 |
IN |
denotes |
at |
| T8238 |
13920-13925 |
NN |
denotes |
ITPR1 |
| T8239 |
13925-13926 |
: |
denotes |
; |
| T8240 |
13927-13931 |
DT |
denotes |
this |
| T8241 |
13932-13939 |
NN |
denotes |
concept |
| T8242 |
13943-13953 |
JJ |
denotes |
consistent |
| T8243 |
13954-13958 |
IN |
denotes |
with |
| T8244 |
13959-13962 |
DT |
denotes |
the |
| T8245 |
13963-13974 |
NN |
denotes |
observation |
| T8246 |
13975-13979 |
IN |
denotes |
that |
| T8247 |
14002-14007 |
VBZ |
denotes |
leads |
| T8248 |
13980-13992 |
JJ |
denotes |
heterozygous |
| T8249 |
13993-14001 |
NN |
denotes |
deletion |
| T8250 |
14008-14010 |
IN |
denotes |
to |
| T8251 |
14011-14012 |
DT |
denotes |
a |
| T8252 |
14025-14033 |
NN |
denotes |
disorder |
| T8253 |
14013-14018 |
JJ |
denotes |
later |
| T8254 |
14019-14024 |
NN |
denotes |
onset |
| T8255 |
14034-14036 |
IN |
denotes |
in |
| T8256 |
14037-14043 |
NNS |
denotes |
humans |
| T8257 |
14043-14045 |
, |
denotes |
, |
| T8258 |
14045-14052 |
IN |
denotes |
whereas |
| T8259 |
14081-14086 |
VBZ |
denotes |
leads |
| T8260 |
14053-14063 |
JJ |
denotes |
homozygous |
| T8261 |
14064-14072 |
NN |
denotes |
deletion |
| T8262 |
14073-14075 |
IN |
denotes |
in |
| T8263 |
14076-14080 |
NNS |
denotes |
mice |
| T8264 |
14087-14089 |
IN |
denotes |
to |
| T8265 |
14090-14092 |
DT |
denotes |
an |
| T8266 |
14105-14113 |
NN |
denotes |
disorder |
| T8267 |
14093-14098 |
JJ |
denotes |
early |
| T8268 |
14099-14104 |
NN |
denotes |
onset |
| T8269 |
14113-14115 |
, |
denotes |
, |
| T8270 |
14115-14119 |
JJ |
denotes |
able |
| T8271 |
14120-14122 |
TO |
denotes |
to |
| T8272 |
14126-14135 |
VBN |
denotes |
expressed |
| T8273 |
14123-14125 |
VB |
denotes |
be |
| T8274 |
14136-14142 |
IN |
denotes |
within |
| T8275 |
14143-14146 |
DT |
denotes |
the |
| T8276 |
14165-14169 |
NN |
denotes |
span |
| T8277 |
14147-14151 |
RB |
denotes |
much |
| T8278 |
14152-14159 |
JJR |
denotes |
shorter |
| T8279 |
14160-14164 |
NN |
denotes |
life |
| T8280 |
14170-14172 |
IN |
denotes |
of |
| T8281 |
14173-14176 |
DT |
denotes |
the |
| T8282 |
14177-14182 |
NN |
denotes |
mouse |
| T8283 |
14182-14183 |
. |
denotes |
. |
| T8284 |
14183-14586 |
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 |
14184-14190 |
RB |
denotes |
Second |
| T8286 |
14519-14525 |
VBD |
denotes |
failed |
| T8287 |
14190-14192 |
, |
denotes |
, |
| T8288 |
14192-14194 |
PRP |
denotes |
we |
| T8289 |
14202-14206 |
VB |
denotes |
rule |
| T8290 |
14195-14198 |
MD |
denotes |
can |
| T8291 |
14198-14201 |
RB |
denotes |
not |
| T8292 |
14207-14210 |
RP |
denotes |
out |
| T8293 |
14211-14214 |
DT |
denotes |
the |
| T8294 |
14215-14224 |
NN |
denotes |
existence |
| T8295 |
14225-14227 |
IN |
denotes |
of |
| T8296 |
14228-14230 |
DT |
denotes |
an |
| T8297 |
14247-14251 |
NN |
denotes |
site |
| T8298 |
14231-14240 |
JJ |
denotes |
alternate |
| T8299 |
14241-14246 |
NN |
denotes |
start |
| T8300 |
14252-14255 |
IN |
denotes |
for |
| T8301 |
14256-14261 |
NN |
denotes |
ITPR1 |
| T8302 |
14262-14266 |
WDT |
denotes |
that |
| T8303 |
14271-14277 |
VB |
denotes |
result |
| T8304 |
14267-14270 |
MD |
denotes |
may |
| T8305 |
14278-14280 |
IN |
denotes |
in |
| T8306 |
14281-14282 |
DT |
denotes |
a |
| T8307 |
14283-14290 |
NN |
denotes |
product |
| T8308 |
14291-14295 |
WDT |
denotes |
that |
| T8309 |
14296-14303 |
VBZ |
denotes |
confers |
| T8310 |
14304-14305 |
DT |
denotes |
a |
| T8311 |
14317-14321 |
NN |
denotes |
gain |
| T8312 |
14306-14316 |
JJ |
denotes |
pathogenic |
| T8313 |
14322-14324 |
IN |
denotes |
of |
| T8314 |
14325-14333 |
NN |
denotes |
function |
| T8315 |
14334-14336 |
IN |
denotes |
to |
| T8316 |
14337-14340 |
DT |
denotes |
the |
| T8317 |
14341-14348 |
NN |
denotes |
protein |
| T8318 |
14348-14349 |
: |
denotes |
; |
| T8319 |
14350-14357 |
RB |
denotes |
however |
| T8320 |
14357-14359 |
, |
denotes |
, |
| T8321 |
14359-14366 |
NNP |
denotes |
Western |
| T8322 |
14367-14371 |
NN |
denotes |
blot |
| T8323 |
14372-14380 |
NN |
denotes |
analysis |
| T8324 |
14381-14383 |
IN |
denotes |
of |
| T8325 |
14384-14389 |
NNS |
denotes |
cells |
| T8326 |
14390-14397 |
VBN |
denotes |
derived |
| T8327 |
14398-14402 |
IN |
denotes |
from |
| T8328 |
14403-14411 |
VBN |
denotes |
affected |
| T8329 |
14424-14431 |
NNS |
denotes |
members |
| T8330 |
14412-14416 |
NN |
denotes |
AUS1 |
| T8331 |
14417-14423 |
NN |
denotes |
family |
| T8332 |
14431-14433 |
, |
denotes |
, |
| T8333 |
14433-14438 |
WDT |
denotes |
which |
| T8334 |
14443-14452 |
VBN |
denotes |
performed |
| T8335 |
14439-14442 |
VBD |
denotes |
was |
| T8336 |
14453-14458 |
VBG |
denotes |
using |
| T8337 |
14459-14461 |
DT |
denotes |
an |
| T8338 |
14462-14470 |
NN |
denotes |
antibody |
| T8339 |
14471-14477 |
VBN |
denotes |
raised |
| T8340 |
14478-14485 |
IN |
denotes |
against |
| T8341 |
14486-14489 |
DT |
denotes |
the |
| T8342 |
14501-14508 |
NN |
denotes |
portion |
| T8343 |
14490-14491 |
NN |
denotes |
C |
| T8344 |
14492-14500 |
JJ |
denotes |
terminal |
| T8345 |
14491-14492 |
HYPH |
denotes |
- |
| T8346 |
14509-14511 |
IN |
denotes |
of |
| T8347 |
14512-14517 |
NN |
denotes |
ITPR1 |
| T8348 |
14517-14519 |
, |
denotes |
, |
| T8349 |
14526-14528 |
TO |
denotes |
to |
| T8350 |
14529-14537 |
VB |
denotes |
identify |
| T8351 |
14538-14541 |
DT |
denotes |
any |
| T8352 |
14577-14585 |
NNS |
denotes |
products |
| T8353 |
14542-14549 |
NN |
denotes |
disease |
| T8354 |
14550-14558 |
JJ |
denotes |
specific |
| T8355 |
14549-14550 |
HYPH |
denotes |
- |
| T8356 |
14559-14568 |
VBN |
denotes |
truncated |
| T8357 |
14569-14576 |
NN |
denotes |
protein |
| T8358 |
14585-14586 |
. |
denotes |
. |
| T8359 |
14586-14722 |
sentence |
denotes |
Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder. |
| T8360 |
14587-14594 |
RB |
denotes |
Clearly |
| T8361 |
14665-14669 |
VB |
denotes |
help |
| T8362 |
14594-14596 |
, |
denotes |
, |
| T8363 |
14596-14599 |
DT |
denotes |
the |
| T8364 |
14600-14614 |
NN |
denotes |
identification |
| T8365 |
14615-14617 |
IN |
denotes |
of |
| T8366 |
14618-14626 |
JJ |
denotes |
distinct |
| T8367 |
14633-14642 |
NNS |
denotes |
mutations |
| T8368 |
14627-14632 |
NN |
denotes |
ITPR1 |
| T8369 |
14643-14653 |
VBG |
denotes |
underlying |
| T8370 |
14654-14659 |
NN |
denotes |
SCA15 |
| T8371 |
14660-14664 |
MD |
denotes |
will |
| T8372 |
14670-14679 |
VB |
denotes |
elucidate |
| T8373 |
14680-14683 |
DT |
denotes |
the |
| T8374 |
14695-14704 |
NN |
denotes |
mechanism |
| T8375 |
14684-14694 |
JJ |
denotes |
pathogenic |
| T8376 |
14705-14707 |
IN |
denotes |
of |
| T8377 |
14708-14712 |
DT |
denotes |
this |
| T8378 |
14713-14721 |
NN |
denotes |
disorder |
| T8379 |
14721-14722 |
. |
denotes |
. |
| T8380 |
14722-14824 |
sentence |
denotes |
We show here the utility of investigating spontaneous mouse mutations in understanding human disease. |
| T8381 |
14723-14725 |
PRP |
denotes |
We |
| T8382 |
14726-14730 |
VBP |
denotes |
show |
| T8383 |
14731-14735 |
RB |
denotes |
here |
| T8384 |
14736-14739 |
DT |
denotes |
the |
| T8385 |
14740-14747 |
NN |
denotes |
utility |
| T8386 |
14748-14750 |
IN |
denotes |
of |
| T8387 |
14751-14764 |
VBG |
denotes |
investigating |
| T8388 |
14765-14776 |
JJ |
denotes |
spontaneous |
| T8389 |
14783-14792 |
NNS |
denotes |
mutations |
| T8390 |
14777-14782 |
NN |
denotes |
mouse |
| T8391 |
14793-14795 |
IN |
denotes |
in |
| T8392 |
14796-14809 |
VBG |
denotes |
understanding |
| T8393 |
14810-14815 |
JJ |
denotes |
human |
| T8394 |
14816-14823 |
NN |
denotes |
disease |
| T8395 |
14823-14824 |
. |
denotes |
. |
| T8396 |
14824-15071 |
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 |
14825-14834 |
RB |
denotes |
Currently |
| T8398 |
14881-14890 |
VBZ |
denotes |
precludes |
| T8399 |
14834-14836 |
, |
denotes |
, |
| T8400 |
14836-14839 |
DT |
denotes |
the |
| T8401 |
14846-14852 |
NN |
denotes |
number |
| T8402 |
14840-14845 |
JJ |
denotes |
small |
| T8403 |
14853-14855 |
IN |
denotes |
of |
| T8404 |
14856-14860 |
VBN |
denotes |
aged |
| T8405 |
14873-14880 |
NNS |
denotes |
animals |
| T8406 |
14861-14868 |
NN |
denotes |
Itpr1wt |
| T8407 |
14869-14872 |
NN |
denotes |
Δ18 |
| T8408 |
14868-14869 |
HYPH |
denotes |
/ |
| T8409 |
15011-15014 |
VBP |
denotes |
are |
| T8410 |
14891-14893 |
PRP |
denotes |
us |
| T8411 |
14894-14898 |
IN |
denotes |
from |
| T8412 |
14899-14908 |
VBG |
denotes |
examining |
| T8413 |
14909-14914 |
DT |
denotes |
these |
| T8414 |
14915-14919 |
NNS |
denotes |
mice |
| T8415 |
14920-14923 |
IN |
denotes |
for |
| T8416 |
14924-14930 |
JJ |
denotes |
subtle |
| T8417 |
14931-14936 |
NNS |
denotes |
signs |
| T8418 |
14937-14940 |
CC |
denotes |
and |
| T8419 |
14941-14949 |
NNS |
denotes |
symptoms |
| T8420 |
14950-14957 |
JJ |
denotes |
similar |
| T8421 |
14958-14960 |
IN |
denotes |
to |
| T8422 |
14961-14966 |
DT |
denotes |
those |
| T8423 |
14967-14971 |
VBN |
denotes |
seen |
| T8424 |
14972-14974 |
IN |
denotes |
in |
| T8425 |
14975-14980 |
NN |
denotes |
SCA15 |
| T8426 |
14981-14989 |
NNS |
denotes |
patients |
| T8427 |
14989-14990 |
: |
denotes |
; |
| T8428 |
14991-14998 |
RB |
denotes |
however |
| T8429 |
14998-15000 |
, |
denotes |
, |
| T8430 |
15000-15005 |
DT |
denotes |
these |
| T8431 |
15006-15010 |
NNS |
denotes |
mice |
| T8432 |
15015-15022 |
RB |
denotes |
clearly |
| T8433 |
15023-15025 |
IN |
denotes |
of |
| T8434 |
15026-15034 |
NN |
denotes |
interest |
| T8435 |
15035-15037 |
IN |
denotes |
to |
| T8436 |
15038-15040 |
PRP |
denotes |
us |
| T8437 |
15041-15043 |
IN |
denotes |
as |
| T8438 |
15044-15045 |
DT |
denotes |
a |
| T8439 |
15056-15061 |
NN |
denotes |
model |
| T8440 |
15046-15055 |
JJ |
denotes |
potential |
| T8441 |
15062-15064 |
IN |
denotes |
of |
| T8442 |
15065-15070 |
NN |
denotes |
SCA15 |
| T8443 |
15070-15071 |
. |
denotes |
. |
| T8444 |
15071-15216 |
sentence |
denotes |
These data also demonstrate that genome-wide SNP assay can facilitate rapid detection of structural genomic mutations that may underlie disease. |
| T8445 |
15072-15077 |
DT |
denotes |
These |
| T8446 |
15078-15082 |
NNS |
denotes |
data |
| T8447 |
15088-15099 |
VBP |
denotes |
demonstrate |
| T8448 |
15083-15087 |
RB |
denotes |
also |
| T8449 |
15100-15104 |
IN |
denotes |
that |
| T8450 |
15131-15141 |
VB |
denotes |
facilitate |
| T8451 |
15105-15111 |
NN |
denotes |
genome |
| T8452 |
15112-15116 |
JJ |
denotes |
wide |
| T8453 |
15111-15112 |
HYPH |
denotes |
- |
| T8454 |
15121-15126 |
NN |
denotes |
assay |
| T8455 |
15117-15120 |
NN |
denotes |
SNP |
| T8456 |
15127-15130 |
MD |
denotes |
can |
| T8457 |
15142-15147 |
JJ |
denotes |
rapid |
| T8458 |
15148-15157 |
NN |
denotes |
detection |
| T8459 |
15158-15160 |
IN |
denotes |
of |
| T8460 |
15161-15171 |
JJ |
denotes |
structural |
| T8461 |
15180-15189 |
NNS |
denotes |
mutations |
| T8462 |
15172-15179 |
JJ |
denotes |
genomic |
| T8463 |
15190-15194 |
WDT |
denotes |
that |
| T8464 |
15199-15207 |
VB |
denotes |
underlie |
| T8465 |
15195-15198 |
MD |
denotes |
may |
| T8466 |
15208-15215 |
NN |
denotes |
disease |
| T8467 |
15215-15216 |
. |
denotes |
. |
| T8468 |
15216-15332 |
sentence |
denotes |
The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15. |
| T8469 |
15217-15220 |
DT |
denotes |
The |
| T8470 |
15221-15225 |
NNS |
denotes |
data |
| T8471 |
15255-15262 |
VBP |
denotes |
provide |
| T8472 |
15226-15234 |
VBN |
denotes |
provided |
| T8473 |
15235-15237 |
IN |
denotes |
by |
| T8474 |
15238-15243 |
DT |
denotes |
these |
| T8475 |
15244-15254 |
NNS |
denotes |
approaches |
| T8476 |
15263-15273 |
JJ |
denotes |
compelling |
| T8477 |
15274-15282 |
NN |
denotes |
evidence |
| T8478 |
15283-15287 |
IN |
denotes |
that |
| T8479 |
15319-15325 |
VBZ |
denotes |
causes |
| T8480 |
15288-15300 |
JJ |
denotes |
heterozygous |
| T8481 |
15301-15309 |
NN |
denotes |
deletion |
| T8482 |
15310-15312 |
IN |
denotes |
of |
| T8483 |
15313-15318 |
NN |
denotes |
ITPR1 |
| T8484 |
15326-15331 |
NN |
denotes |
SCA15 |
| T8485 |
15331-15332 |
. |
denotes |
. |
| T8486 |
15332-15724 |
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 |
15333-15340 |
RB |
denotes |
Clearly |
| T8488 |
15398-15405 |
VB |
denotes |
provide |
| T8489 |
15340-15342 |
, |
denotes |
, |
| T8490 |
15342-15350 |
NN |
denotes |
sequence |
| T8491 |
15351-15359 |
NN |
denotes |
analysis |
| T8492 |
15360-15362 |
IN |
denotes |
of |
| T8493 |
15363-15368 |
NN |
denotes |
ITPR1 |
| T8494 |
15369-15371 |
IN |
denotes |
in |
| T8495 |
15372-15381 |
JJ |
denotes |
potential |
| T8496 |
15388-15393 |
NNS |
denotes |
cases |
| T8497 |
15382-15387 |
NN |
denotes |
SCA15 |
| T8498 |
15394-15397 |
MD |
denotes |
may |
| T8499 |
15543-15548 |
VBZ |
denotes |
means |
| T8500 |
15406-15416 |
JJ |
denotes |
additional |
| T8501 |
15417-15424 |
NN |
denotes |
insight |
| T8502 |
15425-15429 |
IN |
denotes |
into |
| T8503 |
15430-15433 |
DT |
denotes |
the |
| T8504 |
15434-15441 |
NN |
denotes |
disease |
| T8505 |
15441-15443 |
, |
denotes |
, |
| T8506 |
15443-15455 |
RB |
denotes |
particularly |
| T8507 |
15475-15479 |
VBD |
denotes |
were |
| T8508 |
15456-15458 |
IN |
denotes |
if |
| T8509 |
15459-15460 |
DT |
denotes |
a |
| T8510 |
15466-15474 |
NN |
denotes |
mutation |
| T8511 |
15461-15465 |
NN |
denotes |
stop |
| T8512 |
15480-15482 |
TO |
denotes |
to |
| T8513 |
15486-15496 |
VBN |
denotes |
identified |
| T8514 |
15483-15485 |
VB |
denotes |
be |
| T8515 |
15496-15497 |
: |
denotes |
; |
| T8516 |
15498-15505 |
RB |
denotes |
however |
| T8517 |
15505-15507 |
, |
denotes |
, |
| T8518 |
15507-15510 |
DT |
denotes |
the |
| T8519 |
15522-15531 |
NN |
denotes |
mechanism |
| T8520 |
15511-15521 |
JJ |
denotes |
mutational |
| T8521 |
15532-15537 |
VBN |
denotes |
noted |
| T8522 |
15538-15542 |
RB |
denotes |
here |
| T8523 |
15549-15553 |
IN |
denotes |
that |
| T8524 |
15715-15723 |
VBN |
denotes |
required |
| T8525 |
15554-15562 |
JJ |
denotes |
standard |
| T8526 |
15574-15584 |
NNS |
denotes |
approaches |
| T8527 |
15563-15573 |
NN |
denotes |
sequencing |
| T8528 |
15591-15594 |
VBP |
denotes |
are |
| T8529 |
15585-15590 |
RB |
denotes |
alone |
| T8530 |
15595-15607 |
JJ |
denotes |
insufficient |
| T8531 |
15608-15610 |
TO |
denotes |
to |
| T8532 |
15623-15627 |
VB |
denotes |
rule |
| T8533 |
15611-15622 |
RB |
denotes |
confidently |
| T8534 |
15628-15631 |
RP |
denotes |
out |
| T8535 |
15632-15637 |
NN |
denotes |
ITPR1 |
| T8536 |
15638-15646 |
NN |
denotes |
mutation |
| T8537 |
15647-15649 |
IN |
denotes |
as |
| T8538 |
15650-15651 |
DT |
denotes |
a |
| T8539 |
15652-15657 |
NN |
denotes |
cause |
| T8540 |
15658-15660 |
IN |
denotes |
of |
| T8541 |
15661-15668 |
NN |
denotes |
disease |
| T8542 |
15668-15670 |
: |
denotes |
: |
| T8543 |
15670-15671 |
DT |
denotes |
a |
| T8544 |
15698-15706 |
NN |
denotes |
approach |
| T8545 |
15672-15685 |
JJ |
denotes |
comprehensive |
| T8546 |
15686-15690 |
NN |
denotes |
gene |
| T8547 |
15691-15697 |
NN |
denotes |
dosage |
| T8548 |
15707-15709 |
VBZ |
denotes |
is |
| T8549 |
15710-15714 |
RB |
denotes |
also |
| T8550 |
15723-15724 |
. |
denotes |
. |
| T8551 |
15724-15944 |
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 |
15725-15730 |
VBN |
denotes |
Given |
| T8553 |
15888-15890 |
VBZ |
denotes |
is |
| T8554 |
15731-15735 |
IN |
denotes |
that |
| T8555 |
15822-15828 |
VBN |
denotes |
mapped |
| T8556 |
15736-15741 |
NN |
denotes |
SCA16 |
| T8557 |
15742-15745 |
CC |
denotes |
and |
| T8558 |
15746-15755 |
JJ |
denotes |
autosomal |
| T8559 |
15791-15797 |
NN |
denotes |
ataxia |
| T8560 |
15756-15764 |
JJ |
denotes |
dominant |
| T8561 |
15765-15775 |
JJ |
denotes |
congenital |
| T8562 |
15776-15790 |
JJ |
denotes |
nonprogressive |
| T8563 |
15798-15802 |
VBP |
denotes |
have |
| T8564 |
15803-15807 |
DT |
denotes |
both |
| T8565 |
15808-15816 |
RB |
denotes |
recently |
| T8566 |
15817-15821 |
VBN |
denotes |
been |
| T8567 |
15829-15831 |
IN |
denotes |
to |
| T8568 |
15832-15839 |
NNS |
denotes |
regions |
| T8569 |
15840-15851 |
VBG |
denotes |
overlapping |
| T8570 |
15852-15856 |
IN |
denotes |
with |
| T8571 |
15857-15860 |
DT |
denotes |
the |
| T8572 |
15867-15872 |
NN |
denotes |
locus |
| T8573 |
15861-15866 |
NN |
denotes |
SCA15 |
| T8574 |
15873-15874 |
-LRB- |
denotes |
[ |
| T8575 |
15877-15879 |
CD |
denotes |
11 |
| T8576 |
15874-15876 |
CD |
denotes |
10 |
| T8577 |
15876-15877 |
, |
denotes |
, |
| T8578 |
15879-15880 |
-RRB- |
denotes |
] |
| T8579 |
15880-15882 |
, |
denotes |
, |
| T8580 |
15882-15887 |
NN |
denotes |
ITPR1 |
| T8581 |
15891-15892 |
DT |
denotes |
a |
| T8582 |
15893-15897 |
NN |
denotes |
gene |
| T8583 |
15898-15900 |
IN |
denotes |
of |
| T8584 |
15901-15911 |
NN |
denotes |
importance |
| T8585 |
15912-15915 |
IN |
denotes |
for |
| T8586 |
15916-15925 |
NN |
denotes |
screening |
| T8587 |
15926-15928 |
IN |
denotes |
in |
| T8588 |
15929-15934 |
DT |
denotes |
these |
| T8589 |
15935-15943 |
NNS |
denotes |
families |
| T8590 |
15943-15944 |
. |
denotes |
. |
| T8591 |
15944-16083 |
sentence |
denotes |
These data add weight to a role for aberrant intracellular Ca2+ signaling in Purkinje cells in the pathogenesis of spinocerebellar ataxia. |
| T8592 |
15945-15950 |
DT |
denotes |
These |
| T8593 |
15951-15955 |
NNS |
denotes |
data |
| T8594 |
15956-15959 |
VBP |
denotes |
add |
| T8595 |
15960-15966 |
NN |
denotes |
weight |
| T8596 |
15967-15969 |
IN |
denotes |
to |
| T8597 |
15970-15971 |
DT |
denotes |
a |
| T8598 |
15972-15976 |
NN |
denotes |
role |
| T8599 |
15977-15980 |
IN |
denotes |
for |
| T8600 |
15981-15989 |
JJ |
denotes |
aberrant |
| T8601 |
16009-16018 |
NN |
denotes |
signaling |
| T8602 |
15990-16003 |
JJ |
denotes |
intracellular |
| T8603 |
16004-16008 |
NN |
denotes |
Ca2+ |
| T8604 |
16019-16021 |
IN |
denotes |
in |
| T8605 |
16022-16030 |
NNP |
denotes |
Purkinje |
| T8606 |
16031-16036 |
NNS |
denotes |
cells |
| T8607 |
16037-16039 |
IN |
denotes |
in |
| T8608 |
16040-16043 |
DT |
denotes |
the |
| T8609 |
16044-16056 |
NN |
denotes |
pathogenesis |
| T8610 |
16057-16059 |
IN |
denotes |
of |
| T8611 |
16060-16075 |
JJ |
denotes |
spinocerebellar |
| T8612 |
16076-16082 |
NN |
denotes |
ataxia |
| T8613 |
16082-16083 |
. |
denotes |
. |
| T16337 |
13303-13311 |
NN |
denotes |
antibody |
| T14399 |
2988-3008 |
NN |
denotes |
Immunohistochemistry |
| T14400 |
3009-3012 |
CC |
denotes |
and |
| T14401 |
3013-3020 |
NNP |
denotes |
Western |
| T14402 |
3021-3025 |
NN |
denotes |
Blot |
| T14403 |
3026-3034 |
NN |
denotes |
Analysis |
| T14404 |
3035-3037 |
IN |
denotes |
of |
| T14405 |
3038-3043 |
NN |
denotes |
ITPR1 |
| T14406 |
3052-3058 |
NNS |
denotes |
Levels |
| T14407 |
3044-3051 |
NN |
denotes |
Protein |
| T14408 |
3059-3061 |
IN |
denotes |
in |
| T14409 |
3062-3067 |
NN |
denotes |
Mouse |
| T14410 |
3068-3078 |
NN |
denotes |
Cerebellum |
| T14411 |
3078-3277 |
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 |
3079-3080 |
-LRB- |
denotes |
( |
| T14413 |
3080-3081 |
LS |
denotes |
A |
| T14414 |
3085-3105 |
NN |
denotes |
Immunohistochemistry |
| T14415 |
3081-3082 |
SYM |
denotes |
– |
| T14416 |
3082-3083 |
LS |
denotes |
F |
| T14417 |
3083-3084 |
-RRB- |
denotes |
) |
| T14418 |
3106-3108 |
IN |
denotes |
of |
| T14419 |
3109-3119 |
NN |
denotes |
cerebellum |
| T14420 |
3120-3124 |
IN |
denotes |
from |
| T14421 |
3125-3126 |
DT |
denotes |
a |
| T14422 |
3137-3142 |
NN |
denotes |
mouse |
| T14423 |
3127-3131 |
JJ |
denotes |
wild |
| T14424 |
3132-3136 |
NN |
denotes |
type |
| T14425 |
3131-3132 |
HYPH |
denotes |
- |
| T14426 |
3143-3144 |
-LRB- |
denotes |
( |
| T14427 |
3144-3145 |
NN |
denotes |
A |
| T14428 |
3146-3149 |
CC |
denotes |
and |
| T14429 |
3150-3151 |
NN |
denotes |
D |
| T14430 |
3151-3152 |
-RRB- |
denotes |
) |
| T14431 |
3152-3154 |
, |
denotes |
, |
| T14432 |
3154-3155 |
DT |
denotes |
a |
| T14433 |
3156-3161 |
NN |
denotes |
mouse |
| T14434 |
3162-3174 |
JJ |
denotes |
heterozygous |
| T14435 |
3175-3178 |
IN |
denotes |
for |
| T14436 |
3179-3182 |
DT |
denotes |
the |
| T14437 |
3195-3203 |
NN |
denotes |
deletion |
| T14438 |
3183-3188 |
NN |
denotes |
Itpr1 |
| T14439 |
3189-3191 |
CD |
denotes |
18 |
| T14440 |
3192-3194 |
NN |
denotes |
bp |
| T14441 |
3191-3192 |
HYPH |
denotes |
- |
| T14442 |
3204-3205 |
-LRB- |
denotes |
( |
| T14443 |
3205-3206 |
NN |
denotes |
B |
| T14444 |
3207-3210 |
CC |
denotes |
and |
| T14445 |
3211-3212 |
NN |
denotes |
E |
| T14446 |
3212-3213 |
-RRB- |
denotes |
) |
| T14447 |
3213-3215 |
, |
denotes |
, |
| T14448 |
3215-3218 |
CC |
denotes |
and |
| T14449 |
3219-3220 |
DT |
denotes |
a |
| T14450 |
3221-3226 |
NN |
denotes |
mouse |
| T14451 |
3227-3237 |
JJ |
denotes |
homozygous |
| T14452 |
3238-3241 |
IN |
denotes |
for |
| T14453 |
3242-3245 |
DT |
denotes |
the |
| T14454 |
3258-3266 |
NN |
denotes |
deletion |
| T14455 |
3246-3248 |
CD |
denotes |
18 |
| T14456 |
3249-3251 |
NN |
denotes |
bp |
| T14457 |
3248-3249 |
HYPH |
denotes |
- |
| T14458 |
3252-3257 |
NN |
denotes |
Itpr1 |
| T14459 |
3267-3268 |
-LRB- |
denotes |
( |
| T14460 |
3268-3269 |
NN |
denotes |
C |
| T14461 |
3270-3273 |
CC |
denotes |
and |
| T14462 |
3274-3275 |
NN |
denotes |
F |
| T14463 |
3275-3276 |
-RRB- |
denotes |
) |
| T14464 |
3276-3277 |
. |
denotes |
. |
| T14465 |
3277-3474 |
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 |
3278-3279 |
-LRB- |
denotes |
( |
| T14467 |
3279-3280 |
LS |
denotes |
A |
| T14468 |
3284-3304 |
NN |
denotes |
Immunohistochemistry |
| T14469 |
3280-3281 |
SYM |
denotes |
– |
| T14470 |
3281-3282 |
LS |
denotes |
C |
| T14471 |
3282-3283 |
-RRB- |
denotes |
) |
| T14472 |
3305-3310 |
VBG |
denotes |
using |
| T14473 |
3311-3321 |
JJ |
denotes |
polyclonal |
| T14474 |
3340-3348 |
NN |
denotes |
antibody |
| T14475 |
3322-3327 |
NN |
denotes |
Itpr1 |
| T14476 |
3328-3339 |
JJ |
denotes |
anti-rabbit |
| T14477 |
3349-3350 |
-LRB- |
denotes |
( |
| T14478 |
3365-3370 |
NNP |
denotes |
Fluor |
| T14479 |
3350-3351 |
CD |
denotes |
1 |
| T14480 |
3351-3352 |
SYM |
denotes |
: |
| T14481 |
3352-3357 |
CD |
denotes |
2,000 |
| T14482 |
3357-3358 |
: |
denotes |
; |
| T14483 |
3359-3364 |
NNP |
denotes |
Alexa |
| T14484 |
3371-3374 |
CD |
denotes |
555 |
| T14485 |
3374-3375 |
-RRB- |
denotes |
) |
| T14486 |
3375-3376 |
: |
denotes |
; |
| T14487 |
3377-3378 |
-LRB- |
denotes |
( |
| T14488 |
3378-3379 |
LS |
denotes |
D |
| T14489 |
3383-3403 |
NN |
denotes |
immunohistochemistry |
| T14490 |
3379-3380 |
SYM |
denotes |
– |
| T14491 |
3380-3381 |
LS |
denotes |
F |
| T14492 |
3381-3382 |
-RRB- |
denotes |
) |
| T14493 |
3404-3409 |
VBG |
denotes |
using |
| T14494 |
3410-3420 |
JJ |
denotes |
monoclonal |
| T14495 |
3438-3446 |
NN |
denotes |
antibody |
| T14496 |
3421-3426 |
NN |
denotes |
Calb1 |
| T14497 |
3427-3437 |
JJ |
denotes |
anti-mouse |
| T14498 |
3447-3448 |
-LRB- |
denotes |
( |
| T14499 |
3463-3468 |
NNP |
denotes |
Fluor |
| T14500 |
3448-3449 |
CD |
denotes |
1 |
| T14501 |
3449-3450 |
SYM |
denotes |
: |
| T14502 |
3450-3455 |
CD |
denotes |
6,000 |
| T14503 |
3455-3456 |
: |
denotes |
; |
| T14504 |
3457-3462 |
NNP |
denotes |
Alexa |
| T14505 |
3469-3472 |
CD |
denotes |
488 |
| T14506 |
3472-3473 |
-RRB- |
denotes |
) |
| T14507 |
3473-3474 |
. |
denotes |
. |
| T14508 |
3474-3500 |
sentence |
denotes |
Scale bars denote 100 μm. |
| T14509 |
3475-3480 |
NN |
denotes |
Scale |
| T14510 |
3481-3485 |
NNS |
denotes |
bars |
| T14511 |
3486-3492 |
VBP |
denotes |
denote |
| T14512 |
3493-3496 |
CD |
denotes |
100 |
| T14513 |
3497-3499 |
NN |
denotes |
μm |
| T14514 |
3499-3500 |
. |
denotes |
. |
| T14515 |
3500-3574 |
sentence |
denotes |
As previously described, Iptr1 is highly expressed in the Purkinje cells. |
| T14516 |
3501-3503 |
IN |
denotes |
As |
| T14517 |
3515-3524 |
VBN |
denotes |
described |
| T14518 |
3504-3514 |
RB |
denotes |
previously |
| T14519 |
3542-3551 |
VBN |
denotes |
expressed |
| T14520 |
3524-3526 |
, |
denotes |
, |
| T14521 |
3526-3531 |
NN |
denotes |
Iptr1 |
| T14522 |
3532-3534 |
VBZ |
denotes |
is |
| T14523 |
3535-3541 |
RB |
denotes |
highly |
| T14524 |
3552-3554 |
IN |
denotes |
in |
| T14525 |
3555-3558 |
DT |
denotes |
the |
| T14526 |
3568-3573 |
NNS |
denotes |
cells |
| T14527 |
3559-3567 |
NNP |
denotes |
Purkinje |
| T14528 |
3573-3574 |
. |
denotes |
. |
| T14529 |
3574-3687 |
sentence |
denotes |
Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice. |
| T14530 |
3575-3582 |
RB |
denotes |
Notably |
| T14531 |
3590-3597 |
VBZ |
denotes |
appears |
| T14532 |
3582-3584 |
, |
denotes |
, |
| T14533 |
3584-3589 |
EX |
denotes |
there |
| T14534 |
3598-3600 |
TO |
denotes |
to |
| T14535 |
3601-3603 |
VB |
denotes |
be |
| T14536 |
3604-3613 |
VBN |
denotes |
decreased |
| T14537 |
3614-3630 |
NN |
denotes |
immunoreactivity |
| T14538 |
3631-3633 |
IN |
denotes |
to |
| T14539 |
3634-3639 |
NN |
denotes |
Itpr1 |
| T14540 |
3640-3642 |
IN |
denotes |
in |
| T14541 |
3643-3646 |
DT |
denotes |
the |
| T14542 |
3682-3686 |
NNS |
denotes |
mice |
| T14543 |
3647-3659 |
JJ |
denotes |
heterozygous |
| T14544 |
3660-3663 |
CC |
denotes |
and |
| T14545 |
3664-3674 |
JJ |
denotes |
homozygous |
| T14546 |
3675-3681 |
NN |
denotes |
mutant |
| T14547 |
3686-3687 |
. |
denotes |
. |
| T14548 |
3687-3938 |
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 |
3688-3689 |
-LRB- |
denotes |
( |
| T14550 |
3689-3690 |
LS |
denotes |
G |
| T14551 |
3819-3824 |
VBZ |
denotes |
shows |
| T14552 |
3690-3691 |
-RRB- |
denotes |
) |
| T14553 |
3692-3699 |
NNP |
denotes |
Western |
| T14554 |
3700-3704 |
NN |
denotes |
blot |
| T14555 |
3705-3714 |
VBN |
denotes |
performed |
| T14556 |
3715-3717 |
TO |
denotes |
to |
| T14557 |
3718-3725 |
VB |
denotes |
examine |
| T14558 |
3726-3731 |
NN |
denotes |
Itpr1 |
| T14559 |
3732-3738 |
NNS |
denotes |
levels |
| T14560 |
3739-3741 |
IN |
denotes |
in |
| T14561 |
3742-3747 |
JJ |
denotes |
whole |
| T14562 |
3748-3753 |
NN |
denotes |
brain |
| T14563 |
3754-3758 |
IN |
denotes |
from |
| T14564 |
3759-3763 |
JJ |
denotes |
wild |
| T14565 |
3764-3768 |
NN |
denotes |
type |
| T14566 |
3763-3764 |
HYPH |
denotes |
- |
| T14567 |
3800-3804 |
NNS |
denotes |
mice |
| T14568 |
3768-3770 |
, |
denotes |
, |
| T14569 |
3770-3777 |
NN |
denotes |
Itpr1wt |
| T14570 |
3778-3781 |
NN |
denotes |
Δ18 |
| T14571 |
3777-3778 |
HYPH |
denotes |
/ |
| T14572 |
3781-3783 |
, |
denotes |
, |
| T14573 |
3783-3786 |
CC |
denotes |
and |
| T14574 |
3787-3795 |
NN |
denotes |
Itpr1Δ18 |
| T14575 |
3796-3799 |
NN |
denotes |
Δ18 |
| T14576 |
3795-3796 |
HYPH |
denotes |
/ |
| T14577 |
3804-3805 |
: |
denotes |
; |
| T14578 |
3806-3810 |
DT |
denotes |
this |
| T14579 |
3811-3818 |
RB |
denotes |
clearly |
| T14580 |
3825-3826 |
DT |
denotes |
a |
| T14581 |
3827-3836 |
NN |
denotes |
reduction |
| T14582 |
3837-3839 |
IN |
denotes |
of |
| T14583 |
3840-3845 |
NN |
denotes |
Itpr1 |
| T14584 |
3846-3848 |
IN |
denotes |
in |
| T14585 |
3849-3854 |
NN |
denotes |
brain |
| T14586 |
3855-3861 |
NN |
denotes |
tissue |
| T14587 |
3862-3866 |
IN |
denotes |
from |
| T14588 |
3867-3874 |
NN |
denotes |
Itpr1wt |
| T14589 |
3875-3878 |
NN |
denotes |
Δ18 |
| T14590 |
3874-3875 |
HYPH |
denotes |
/ |
| T14591 |
3879-3883 |
NNS |
denotes |
mice |
| T14592 |
3884-3887 |
CC |
denotes |
and |
| T14593 |
3888-3889 |
DT |
denotes |
a |
| T14594 |
3898-3907 |
NN |
denotes |
reduction |
| T14595 |
3890-3897 |
JJR |
denotes |
greater |
| T14596 |
3908-3910 |
IN |
denotes |
of |
| T14597 |
3911-3916 |
NN |
denotes |
Itpr1 |
| T14598 |
3917-3919 |
IN |
denotes |
in |
| T14599 |
3920-3928 |
NN |
denotes |
Itpr1Δ18 |
| T14600 |
3929-3932 |
NN |
denotes |
Δ18 |
| T14601 |
3928-3929 |
HYPH |
denotes |
/ |
| T14602 |
3933-3937 |
NNS |
denotes |
mice |
| T14603 |
3937-3938 |
. |
denotes |
. |
| T15069 |
6571-6578 |
NNS |
denotes |
Metrics |
| T15070 |
6579-6586 |
VBN |
denotes |
Derived |
| T15071 |
6587-6591 |
IN |
denotes |
from |
| T15072 |
6592-6600 |
NN |
denotes |
Analysis |
| T15073 |
6601-6603 |
IN |
denotes |
of |
| T15074 |
6604-6607 |
NN |
denotes |
DNA |
| T15075 |
6608-6612 |
IN |
denotes |
from |
| T15076 |
6613-6621 |
VBN |
denotes |
Affected |
| T15077 |
6629-6635 |
NN |
denotes |
Member |
| T15078 |
6622-6628 |
NN |
denotes |
Family |
| T15079 |
6636-6637 |
CD |
denotes |
7 |
| T15080 |
6638-6643 |
VBG |
denotes |
Using |
| T15081 |
6644-6652 |
NNP |
denotes |
Illumina |
| T15082 |
6662-6673 |
NNP |
denotes |
HumanHap550 |
| T15083 |
6653-6661 |
NNP |
denotes |
Infinium |
| T15084 |
6685-6690 |
NNS |
denotes |
Chips |
| T15085 |
6674-6684 |
NN |
denotes |
Genotyping |
| T15086 |
6690-6822 |
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 |
6691-6694 |
DT |
denotes |
The |
| T15088 |
6711-6716 |
NNS |
denotes |
plots |
| T15089 |
6695-6700 |
JJ |
denotes |
upper |
| T15090 |
6701-6704 |
CC |
denotes |
and |
| T15091 |
6705-6710 |
JJ |
denotes |
lower |
| T15092 |
6717-6720 |
VBP |
denotes |
are |
| T15093 |
6721-6724 |
NN |
denotes |
log |
| T15094 |
6725-6726 |
NN |
denotes |
R |
| T15095 |
6727-6732 |
NN |
denotes |
ratio |
| T15096 |
6733-6736 |
CC |
denotes |
and |
| T15097 |
6737-6738 |
NN |
denotes |
B |
| T15098 |
6739-6745 |
NN |
denotes |
allele |
| T15099 |
6746-6755 |
NN |
denotes |
frequency |
| T15100 |
6755-6757 |
, |
denotes |
, |
| T15101 |
6757-6769 |
RB |
denotes |
respectively |
| T15102 |
6769-6771 |
, |
denotes |
, |
| T15103 |
6771-6773 |
IN |
denotes |
at |
| T15104 |
6774-6776 |
DT |
denotes |
an |
| T15105 |
6785-6792 |
NN |
denotes |
segment |
| T15106 |
6777-6778 |
SYM |
denotes |
~ |
| T15107 |
6778-6781 |
CD |
denotes |
800 |
| T15108 |
6782-6784 |
NN |
denotes |
kb |
| T15109 |
6781-6782 |
HYPH |
denotes |
- |
| T15110 |
6793-6795 |
IN |
denotes |
on |
| T15111 |
6796-6799 |
DT |
denotes |
the |
| T15112 |
6802-6805 |
NN |
denotes |
arm |
| T15113 |
6800-6801 |
NN |
denotes |
p |
| T15114 |
6806-6808 |
IN |
denotes |
of |
| T15115 |
6809-6819 |
NN |
denotes |
Chromosome |
| T15116 |
6820-6821 |
CD |
denotes |
3 |
| T15117 |
6821-6822 |
. |
denotes |
. |
| T15118 |
6822-6986 |
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 |
6823-6826 |
NN |
denotes |
Log |
| T15120 |
6827-6828 |
NN |
denotes |
R |
| T15121 |
6829-6834 |
NN |
denotes |
ratio |
| T15122 |
6835-6837 |
VBZ |
denotes |
is |
| T15123 |
6838-6841 |
DT |
denotes |
the |
| T15124 |
6842-6847 |
NN |
denotes |
ratio |
| T15125 |
6848-6850 |
IN |
denotes |
of |
| T15126 |
6851-6861 |
VBN |
denotes |
normalized |
| T15127 |
6872-6873 |
NN |
denotes |
R |
| T15128 |
6861-6863 |
, |
denotes |
, |
| T15129 |
6863-6871 |
VBN |
denotes |
observed |
| T15130 |
6874-6876 |
IN |
denotes |
to |
| T15131 |
6877-6885 |
VBN |
denotes |
expected |
| T15132 |
6886-6887 |
NN |
denotes |
R |
| T15133 |
6888-6891 |
IN |
denotes |
for |
| T15134 |
6892-6896 |
DT |
denotes |
each |
| T15135 |
6897-6900 |
NN |
denotes |
SNP |
| T15136 |
6901-6902 |
-LRB- |
denotes |
( |
| T15137 |
6911-6913 |
VBZ |
denotes |
is |
| T15138 |
6902-6906 |
DT |
denotes |
each |
| T15139 |
6907-6910 |
NN |
denotes |
SNP |
| T15140 |
6914-6915 |
DT |
denotes |
a |
| T15141 |
6921-6924 |
NN |
denotes |
dot |
| T15142 |
6916-6920 |
JJ |
denotes |
blue |
| T15143 |
6924-6925 |
-RRB- |
denotes |
) |
| T15144 |
6926-6929 |
CC |
denotes |
and |
| T15145 |
6930-6934 |
RB |
denotes |
thus |
| T15146 |
6935-6941 |
VBZ |
denotes |
serves |
| T15147 |
6942-6944 |
IN |
denotes |
as |
| T15148 |
6945-6946 |
DT |
denotes |
a |
| T15149 |
6947-6956 |
NN |
denotes |
surrogate |
| T15150 |
6957-6959 |
IN |
denotes |
of |
| T15151 |
6960-6964 |
NN |
denotes |
copy |
| T15152 |
6965-6971 |
NN |
denotes |
number |
| T15153 |
6972-6974 |
IN |
denotes |
at |
| T15154 |
6975-6979 |
DT |
denotes |
each |
| T15155 |
6980-6985 |
NN |
denotes |
locus |
| T15156 |
6985-6986 |
. |
denotes |
. |
| T15157 |
6986-7124 |
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 |
6987-6988 |
NN |
denotes |
B |
| T15159 |
6989-6995 |
NN |
denotes |
allele |
| T15160 |
6996-7005 |
NN |
denotes |
frequency |
| T15161 |
7006-7008 |
VBZ |
denotes |
is |
| T15162 |
7009-7010 |
DT |
denotes |
a |
| T15163 |
7011-7018 |
NN |
denotes |
measure |
| T15164 |
7019-7021 |
IN |
denotes |
of |
| T15165 |
7022-7025 |
DT |
denotes |
the |
| T15166 |
7026-7032 |
NN |
denotes |
number |
| T15167 |
7033-7035 |
IN |
denotes |
of |
| T15168 |
7036-7041 |
NNS |
denotes |
times |
| T15169 |
7042-7045 |
DT |
denotes |
the |
| T15170 |
7053-7060 |
NNS |
denotes |
alleles |
| T15171 |
7046-7047 |
NN |
denotes |
A |
| T15172 |
7048-7050 |
CC |
denotes |
or |
| T15173 |
7051-7052 |
NN |
denotes |
B |
| T15174 |
7065-7073 |
VBN |
denotes |
detected |
| T15175 |
7061-7064 |
VBP |
denotes |
are |
| T15176 |
7074-7076 |
IN |
denotes |
at |
| T15177 |
7077-7081 |
DT |
denotes |
each |
| T15178 |
7082-7087 |
NN |
denotes |
locus |
| T15179 |
7088-7089 |
-LRB- |
denotes |
( |
| T15180 |
7101-7108 |
VBN |
denotes |
denoted |
| T15181 |
7089-7093 |
DT |
denotes |
each |
| T15182 |
7094-7097 |
NN |
denotes |
SNP |
| T15183 |
7098-7100 |
VBZ |
denotes |
is |
| T15184 |
7109-7111 |
IN |
denotes |
by |
| T15185 |
7112-7113 |
DT |
denotes |
a |
| T15186 |
7119-7122 |
NN |
denotes |
dot |
| T15187 |
7114-7118 |
JJ |
denotes |
blue |
| T15188 |
7122-7123 |
-RRB- |
denotes |
) |
| T15189 |
7123-7124 |
. |
denotes |
. |
| T15190 |
7124-7342 |
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 |
7125-7129 |
RB |
denotes |
Thus |
| T15192 |
7237-7240 |
VBP |
denotes |
are |
| T15193 |
7129-7131 |
, |
denotes |
, |
| T15194 |
7131-7135 |
NNS |
denotes |
SNPs |
| T15195 |
7169-7172 |
VBP |
denotes |
are |
| T15196 |
7136-7140 |
IN |
denotes |
with |
| T15197 |
7141-7142 |
DT |
denotes |
a |
| T15198 |
7152-7161 |
NN |
denotes |
frequency |
| T15199 |
7143-7144 |
NN |
denotes |
B |
| T15200 |
7145-7151 |
NN |
denotes |
allele |
| T15201 |
7162-7164 |
IN |
denotes |
of |
| T15202 |
7165-7168 |
CD |
denotes |
one |
| T15203 |
7173-7181 |
JJ |
denotes |
apparent |
| T15204 |
7186-7197 |
NNS |
denotes |
homozygotes |
| T15205 |
7182-7183 |
NN |
denotes |
B |
| T15206 |
7184-7185 |
NN |
denotes |
B |
| T15207 |
7183-7184 |
HYPH |
denotes |
/ |
| T15208 |
7197-7199 |
, |
denotes |
, |
| T15209 |
7199-7203 |
NNS |
denotes |
SNPs |
| T15210 |
7204-7208 |
IN |
denotes |
with |
| T15211 |
7209-7210 |
DT |
denotes |
a |
| T15212 |
7220-7229 |
NN |
denotes |
frequency |
| T15213 |
7211-7212 |
NN |
denotes |
B |
| T15214 |
7213-7219 |
NN |
denotes |
allele |
| T15215 |
7230-7232 |
IN |
denotes |
of |
| T15216 |
7233-7236 |
CD |
denotes |
0.5 |
| T15217 |
7241-7249 |
JJ |
denotes |
apparent |
| T15218 |
7254-7267 |
NNS |
denotes |
heterozygotes |
| T15219 |
7250-7251 |
NN |
denotes |
A |
| T15220 |
7252-7253 |
NN |
denotes |
B |
| T15221 |
7251-7252 |
HYPH |
denotes |
/ |
| T15222 |
7267-7269 |
, |
denotes |
, |
| T15223 |
7269-7272 |
CC |
denotes |
and |
| T15224 |
7273-7278 |
DT |
denotes |
those |
| T15225 |
7313-7316 |
VBP |
denotes |
are |
| T15226 |
7279-7283 |
IN |
denotes |
with |
| T15227 |
7284-7285 |
DT |
denotes |
a |
| T15228 |
7295-7304 |
NN |
denotes |
frequency |
| T15229 |
7286-7287 |
NN |
denotes |
B |
| T15230 |
7288-7294 |
NN |
denotes |
allele |
| T15231 |
7305-7307 |
IN |
denotes |
of |
| T15232 |
7308-7312 |
CD |
denotes |
zero |
| T15233 |
7317-7325 |
JJ |
denotes |
apparent |
| T15234 |
7330-7341 |
NNS |
denotes |
homozygotes |
| T15235 |
7326-7327 |
NN |
denotes |
A |
| T15236 |
7328-7329 |
NN |
denotes |
A |
| T15237 |
7327-7328 |
HYPH |
denotes |
/ |
| T15238 |
7341-7342 |
. |
denotes |
. |
| T15239 |
7342-7478 |
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 |
7343-7350 |
RB |
denotes |
Clearly |
| T15241 |
7364-7368 |
VBP |
denotes |
show |
| T15242 |
7350-7352 |
, |
denotes |
, |
| T15243 |
7352-7357 |
DT |
denotes |
these |
| T15244 |
7358-7363 |
NNS |
denotes |
plots |
| T15245 |
7369-7370 |
DT |
denotes |
a |
| T15246 |
7382-7388 |
NN |
denotes |
region |
| T15247 |
7371-7381 |
JJ |
denotes |
contiguous |
| T15248 |
7389-7390 |
SYM |
denotes |
~ |
| T15249 |
7390-7393 |
CD |
denotes |
200 |
| T15250 |
7394-7396 |
NN |
denotes |
kb |
| T15251 |
7397-7401 |
JJ |
denotes |
long |
| T15252 |
7402-7406 |
IN |
denotes |
with |
| T15253 |
7407-7416 |
VBN |
denotes |
decreased |
| T15254 |
7422-7428 |
NN |
denotes |
number |
| T15255 |
7417-7421 |
NN |
denotes |
copy |
| T15256 |
7429-7432 |
CC |
denotes |
and |
| T15257 |
7433-7441 |
JJ |
denotes |
apparent |
| T15258 |
7442-7454 |
NN |
denotes |
homozygosity |
| T15259 |
7455-7456 |
-LRB- |
denotes |
( |
| T15260 |
7456-7463 |
VBN |
denotes |
bounded |
| T15261 |
7464-7466 |
IN |
denotes |
by |
| T15262 |
7467-7468 |
DT |
denotes |
a |
| T15263 |
7473-7476 |
NN |
denotes |
box |
| T15264 |
7469-7472 |
JJ |
denotes |
red |
| T15265 |
7476-7477 |
-RRB- |
denotes |
) |
| T15266 |
7477-7478 |
. |
denotes |
. |
| T15267 |
7478-7574 |
sentence |
denotes |
As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15]. |
| T15268 |
7479-7481 |
IN |
denotes |
As |
| T15269 |
7490-7502 |
VBN |
denotes |
demonstrated |
| T15270 |
7482-7484 |
PRP |
denotes |
we |
| T15271 |
7485-7489 |
VBP |
denotes |
have |
| T15272 |
7520-7522 |
VBZ |
denotes |
is |
| T15273 |
7503-7513 |
RB |
denotes |
previously |
| T15274 |
7513-7515 |
, |
denotes |
, |
| T15275 |
7515-7519 |
DT |
denotes |
this |
| T15276 |
7523-7533 |
JJ |
denotes |
indicative |
| T15277 |
7534-7536 |
IN |
denotes |
of |
| T15278 |
7537-7538 |
DT |
denotes |
a |
| T15279 |
7560-7568 |
NN |
denotes |
deletion |
| T15280 |
7539-7551 |
JJ |
denotes |
heterozygous |
| T15281 |
7552-7559 |
JJ |
denotes |
genomic |
| T15282 |
7569-7570 |
-LRB- |
denotes |
[ |
| T15283 |
7570-7572 |
CD |
denotes |
15 |
| T15284 |
7572-7573 |
-RRB- |
denotes |
] |
| T15285 |
7573-7574 |
. |
denotes |
. |
| T15286 |
7574-7674 |
sentence |
denotes |
Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1. |
| T15287 |
7575-7580 |
IN |
denotes |
Below |
| T15288 |
7593-7595 |
VBZ |
denotes |
is |
| T15289 |
7581-7586 |
DT |
denotes |
these |
| T15290 |
7587-7592 |
NNS |
denotes |
plots |
| T15291 |
7596-7597 |
DT |
denotes |
a |
| T15292 |
7598-7607 |
NN |
denotes |
schematic |
| T15293 |
7608-7610 |
IN |
denotes |
of |
| T15294 |
7611-7614 |
DT |
denotes |
the |
| T15295 |
7625-7630 |
NNS |
denotes |
genes |
| T15296 |
7615-7618 |
CD |
denotes |
two |
| T15297 |
7619-7624 |
VBN |
denotes |
known |
| T15298 |
7631-7639 |
VBN |
denotes |
affected |
| T15299 |
7640-7642 |
IN |
denotes |
by |
| T15300 |
7643-7647 |
DT |
denotes |
this |
| T15301 |
7648-7656 |
NN |
denotes |
deletion |
| T15302 |
7656-7658 |
, |
denotes |
, |
| T15303 |
7658-7663 |
NN |
denotes |
ITPR1 |
| T15304 |
7664-7667 |
CC |
denotes |
and |
| T15305 |
7668-7673 |
NN |
denotes |
SUMF1 |
| T15306 |
7673-7674 |
. |
denotes |
. |
| T16338 |
13312-13319 |
IN |
denotes |
against |
| T15781 |
7685-7693 |
NN |
denotes |
Mutation |
| T15782 |
7694-7702 |
NN |
denotes |
Analysis |
| T15783 |
7703-7705 |
IN |
denotes |
in |
| T15784 |
7706-7709 |
DT |
denotes |
the |
| T15785 |
7727-7733 |
NN |
denotes |
Family |
| T15786 |
7710-7720 |
JJ |
denotes |
Australian |
| T15787 |
7721-7726 |
NN |
denotes |
SCA15 |
| T15788 |
7733-7760 |
sentence |
denotes |
(Top) Pedigree of kindred. |
| T15789 |
7734-7735 |
-LRB- |
denotes |
( |
| T15790 |
7735-7738 |
NN |
denotes |
Top |
| T15791 |
7740-7748 |
NN |
denotes |
Pedigree |
| T15792 |
7738-7739 |
-RRB- |
denotes |
) |
| T15793 |
7749-7751 |
IN |
denotes |
of |
| T15794 |
7752-7759 |
NN |
denotes |
kindred |
| T15795 |
7759-7760 |
. |
denotes |
. |
| T15796 |
7760-7929 |
sentence |
denotes |
Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier. |
| T15797 |
7761-7767 |
VBN |
denotes |
Filled |
| T15798 |
7768-7775 |
NNS |
denotes |
symbols |
| T15799 |
7776-7782 |
VBP |
denotes |
denote |
| T15800 |
7904-7911 |
VBZ |
denotes |
denotes |
| T15801 |
7783-7791 |
VBN |
denotes |
affected |
| T15802 |
7792-7803 |
NNS |
denotes |
individuals |
| T15803 |
7803-7804 |
: |
denotes |
; |
| T15804 |
7805-7809 |
JJ |
denotes |
open |
| T15805 |
7810-7817 |
NNS |
denotes |
symbols |
| T15806 |
7830-7841 |
NNS |
denotes |
individuals |
| T15807 |
7817-7819 |
, |
denotes |
, |
| T15808 |
7819-7829 |
JJ |
denotes |
unaffected |
| T15809 |
7841-7842 |
: |
denotes |
; |
| T15810 |
7843-7847 |
JJ |
denotes |
grey |
| T15811 |
7848-7854 |
NN |
denotes |
symbol |
| T15812 |
7855-7862 |
VBZ |
denotes |
denotes |
| T15813 |
7863-7870 |
JJ |
denotes |
unknown |
| T15814 |
7879-7885 |
NN |
denotes |
status |
| T15815 |
7871-7878 |
NN |
denotes |
disease |
| T15816 |
7885-7886 |
: |
denotes |
; |
| T15817 |
7887-7892 |
NN |
denotes |
bulls |
| T15818 |
7893-7896 |
NN |
denotes |
eye |
| T15819 |
7892-7893 |
HYPH |
denotes |
- |
| T15820 |
7897-7903 |
NN |
denotes |
symbol |
| T15821 |
7912-7920 |
JJ |
denotes |
obligate |
| T15822 |
7921-7928 |
NN |
denotes |
carrier |
| T15823 |
7928-7929 |
. |
denotes |
. |
| T15824 |
7929-8003 |
sentence |
denotes |
w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion. |
| T15825 |
7930-7931 |
NN |
denotes |
w |
| T15826 |
7932-7933 |
NN |
denotes |
w |
| T15827 |
7931-7932 |
HYPH |
denotes |
/ |
| T15828 |
7933-7935 |
, |
denotes |
, |
| T15829 |
7935-7939 |
JJ |
denotes |
wild |
| T15830 |
7940-7944 |
NN |
denotes |
type |
| T15831 |
7939-7940 |
HYPH |
denotes |
- |
| T15832 |
7945-7947 |
IN |
denotes |
at |
| T15833 |
7948-7953 |
NN |
denotes |
ITPR1 |
| T15834 |
7953-7954 |
: |
denotes |
; |
| T15835 |
7955-7956 |
NN |
denotes |
w |
| T15836 |
7957-7958 |
NN |
denotes |
m |
| T15837 |
7956-7957 |
HYPH |
denotes |
/ |
| T15838 |
7958-7960 |
, |
denotes |
, |
| T15839 |
7960-7972 |
JJ |
denotes |
heterozygous |
| T15840 |
7973-7980 |
NN |
denotes |
carrier |
| T15841 |
7981-7983 |
IN |
denotes |
of |
| T15842 |
7984-7987 |
DT |
denotes |
the |
| T15843 |
7994-8002 |
NN |
denotes |
deletion |
| T15844 |
7988-7993 |
NN |
denotes |
ITPR1 |
| T15845 |
8002-8003 |
. |
denotes |
. |
| T15846 |
8003-8151 |
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 |
8004-8005 |
-LRB- |
denotes |
( |
| T15848 |
8005-8011 |
NN |
denotes |
Middle |
| T15849 |
8013-8022 |
JJ |
denotes |
Schematic |
| T15850 |
8011-8012 |
-RRB- |
denotes |
) |
| T15851 |
8023-8025 |
IN |
denotes |
of |
| T15852 |
8026-8032 |
NN |
denotes |
primer |
| T15853 |
8033-8038 |
NNS |
denotes |
pairs |
| T15854 |
8039-8043 |
VBN |
denotes |
used |
| T15855 |
8044-8046 |
TO |
denotes |
to |
| T15856 |
8047-8053 |
VB |
denotes |
narrow |
| T15857 |
8054-8057 |
DT |
denotes |
the |
| T15858 |
8066-8073 |
NNS |
denotes |
regions |
| T15859 |
8058-8065 |
JJ |
denotes |
unknown |
| T15860 |
8074-8081 |
IN |
denotes |
between |
| T15861 |
8082-8087 |
VBN |
denotes |
known |
| T15862 |
8096-8104 |
NN |
denotes |
sequence |
| T15863 |
8088-8095 |
VBN |
denotes |
deleted |
| T15864 |
8105-8108 |
CC |
denotes |
and |
| T15865 |
8109-8114 |
VBN |
denotes |
known |
| T15866 |
8123-8131 |
NN |
denotes |
sequence |
| T15867 |
8115-8122 |
JJ |
denotes |
diploid |
| T15868 |
8132-8134 |
IN |
denotes |
at |
| T15869 |
8135-8138 |
DT |
denotes |
the |
| T15870 |
8145-8150 |
NN |
denotes |
locus |
| T15871 |
8139-8144 |
NN |
denotes |
SCA15 |
| T15872 |
8150-8151 |
. |
denotes |
. |
| T15873 |
8151-8376 |
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 |
8152-8156 |
CD |
denotes |
Nine |
| T15875 |
8164-8169 |
NNS |
denotes |
pairs |
| T15876 |
8157-8163 |
NN |
denotes |
primer |
| T15877 |
8183-8187 |
VBN |
denotes |
used |
| T15878 |
8170-8171 |
-LRB- |
denotes |
( |
| T15879 |
8171-8173 |
NN |
denotes |
T1 |
| T15880 |
8173-8174 |
SYM |
denotes |
– |
| T15881 |
8174-8176 |
NN |
denotes |
T9 |
| T15882 |
8176-8177 |
-RRB- |
denotes |
) |
| T15883 |
8178-8182 |
VBD |
denotes |
were |
| T15884 |
8294-8298 |
VBN |
denotes |
used |
| T15885 |
8188-8190 |
TO |
denotes |
to |
| T15886 |
8191-8198 |
VB |
denotes |
amplify |
| T15887 |
8199-8205 |
IN |
denotes |
across |
| T15888 |
8206-8209 |
DT |
denotes |
the |
| T15889 |
8218-8224 |
NN |
denotes |
region |
| T15890 |
8210-8217 |
JJ |
denotes |
unknown |
| T15891 |
8225-8234 |
JJ |
denotes |
telomeric |
| T15892 |
8235-8237 |
IN |
denotes |
to |
| T15893 |
8238-8241 |
DT |
denotes |
the |
| T15894 |
8256-8262 |
NN |
denotes |
region |
| T15895 |
8242-8247 |
VBN |
denotes |
known |
| T15896 |
8248-8255 |
VBN |
denotes |
deleted |
| T15897 |
8262-8263 |
: |
denotes |
; |
| T15898 |
8264-8266 |
CD |
denotes |
19 |
| T15899 |
8274-8279 |
NNS |
denotes |
pairs |
| T15900 |
8267-8273 |
NN |
denotes |
primer |
| T15901 |
8280-8281 |
-LRB- |
denotes |
( |
| T15902 |
8281-8283 |
NN |
denotes |
C1 |
| T15903 |
8283-8284 |
SYM |
denotes |
– |
| T15904 |
8284-8287 |
NN |
denotes |
C19 |
| T15905 |
8287-8288 |
-RRB- |
denotes |
) |
| T15906 |
8289-8293 |
VBD |
denotes |
were |
| T15907 |
8299-8301 |
TO |
denotes |
to |
| T15908 |
8302-8309 |
VB |
denotes |
amplify |
| T15909 |
8310-8316 |
IN |
denotes |
across |
| T15910 |
8317-8320 |
DT |
denotes |
the |
| T15911 |
8329-8335 |
NN |
denotes |
region |
| T15912 |
8321-8328 |
JJ |
denotes |
unknown |
| T15913 |
8336-8347 |
JJ |
denotes |
centromeric |
| T15914 |
8348-8350 |
IN |
denotes |
to |
| T15915 |
8351-8354 |
DT |
denotes |
the |
| T15916 |
8369-8375 |
NN |
denotes |
region |
| T15917 |
8355-8360 |
VBN |
denotes |
known |
| T15918 |
8361-8368 |
VBN |
denotes |
deleted |
| T15919 |
8375-8376 |
. |
denotes |
. |
| T15920 |
8376-8440 |
sentence |
denotes |
All PCRs were carried out in the three affected family members. |
| T15921 |
8377-8380 |
DT |
denotes |
All |
| T15922 |
8381-8385 |
NNS |
denotes |
PCRs |
| T15923 |
8391-8398 |
VBN |
denotes |
carried |
| T15924 |
8386-8390 |
VBD |
denotes |
were |
| T15925 |
8399-8402 |
RP |
denotes |
out |
| T15926 |
8403-8405 |
IN |
denotes |
in |
| T15927 |
8406-8409 |
DT |
denotes |
the |
| T15928 |
8432-8439 |
NNS |
denotes |
members |
| T15929 |
8410-8415 |
CD |
denotes |
three |
| T15930 |
8416-8424 |
VBN |
denotes |
affected |
| T15931 |
8425-8431 |
NN |
denotes |
family |
| T15932 |
8439-8440 |
. |
denotes |
. |
| T15933 |
8440-8683 |
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 |
8441-8449 |
NN |
denotes |
Analysis |
| T15935 |
8464-8472 |
VBD |
denotes |
narrowed |
| T15936 |
8450-8452 |
IN |
denotes |
of |
| T15937 |
8453-8458 |
DT |
denotes |
these |
| T15938 |
8459-8463 |
NNS |
denotes |
data |
| T15939 |
8473-8476 |
DT |
denotes |
the |
| T15940 |
8485-8491 |
NN |
denotes |
region |
| T15941 |
8477-8484 |
JJ |
denotes |
unknown |
| T15942 |
8491-8493 |
, |
denotes |
, |
| T15943 |
8493-8496 |
CC |
denotes |
and |
| T15944 |
8497-8507 |
RB |
denotes |
ultimately |
| T15945 |
8511-8515 |
VBD |
denotes |
were |
| T15946 |
8508-8510 |
PRP |
denotes |
we |
| T15947 |
8516-8520 |
JJ |
denotes |
able |
| T15948 |
8521-8523 |
TO |
denotes |
to |
| T15949 |
8524-8527 |
VB |
denotes |
use |
| T15950 |
8528-8534 |
NN |
denotes |
primer |
| T15951 |
8535-8538 |
NN |
denotes |
T3f |
| T15952 |
8539-8542 |
CC |
denotes |
and |
| T15953 |
8543-8547 |
NN |
denotes |
C11r |
| T15954 |
8548-8550 |
TO |
denotes |
to |
| T15955 |
8551-8558 |
VB |
denotes |
amplify |
| T15956 |
8559-8565 |
IN |
denotes |
across |
| T15957 |
8566-8569 |
DT |
denotes |
the |
| T15958 |
8579-8589 |
NN |
denotes |
breakpoint |
| T15959 |
8570-8578 |
NN |
denotes |
deletion |
| T15960 |
8590-8592 |
IN |
denotes |
in |
| T15961 |
8593-8596 |
DT |
denotes |
the |
| T15962 |
8619-8626 |
NNS |
denotes |
members |
| T15963 |
8597-8602 |
CD |
denotes |
three |
| T15964 |
8603-8611 |
VBN |
denotes |
affected |
| T15965 |
8612-8618 |
NN |
denotes |
family |
| T15966 |
8626-8628 |
, |
denotes |
, |
| T15967 |
8628-8637 |
VBG |
denotes |
producing |
| T15968 |
8638-8639 |
DT |
denotes |
a |
| T15969 |
8640-8648 |
NN |
denotes |
fragment |
| T15970 |
8649-8651 |
IN |
denotes |
of |
| T15971 |
8652-8655 |
CD |
denotes |
953 |
| T15972 |
8656-8658 |
NN |
denotes |
bp |
| T15973 |
8659-8661 |
IN |
denotes |
in |
| T15974 |
8662-8670 |
VBN |
denotes |
affected |
| T15975 |
8671-8682 |
NNS |
denotes |
individuals |
| T15976 |
8682-8683 |
. |
denotes |
. |
| T15977 |
8683-8939 |
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 |
8684-8685 |
-LRB- |
denotes |
( |
| T15979 |
8685-8691 |
NN |
denotes |
Bottom |
| T15980 |
8693-8696 |
NN |
denotes |
Gel |
| T15981 |
8691-8692 |
-RRB- |
denotes |
) |
| T15982 |
8697-8704 |
VBG |
denotes |
showing |
| T15983 |
8705-8718 |
NN |
denotes |
amplification |
| T15984 |
8719-8726 |
NN |
denotes |
product |
| T15985 |
8727-8732 |
VBG |
denotes |
using |
| T15986 |
8733-8739 |
NN |
denotes |
primer |
| T15987 |
8740-8744 |
NN |
denotes |
pair |
| T15988 |
8745-8748 |
NN |
denotes |
T3f |
| T15989 |
8749-8752 |
CC |
denotes |
and |
| T15990 |
8753-8757 |
NN |
denotes |
C11r |
| T15991 |
8758-8762 |
IN |
denotes |
from |
| T15992 |
8763-8771 |
VBN |
denotes |
affected |
| T15993 |
8789-8790 |
CD |
denotes |
6 |
| T15994 |
8772-8780 |
NN |
denotes |
pedigree |
| T15995 |
8781-8788 |
NNS |
denotes |
members |
| T15996 |
8790-8792 |
, |
denotes |
, |
| T15997 |
8792-8793 |
CD |
denotes |
7 |
| T15998 |
8793-8795 |
, |
denotes |
, |
| T15999 |
8795-8798 |
CC |
denotes |
and |
| T16000 |
8799-8801 |
CD |
denotes |
19 |
| T16001 |
8801-8802 |
: |
denotes |
; |
| T16002 |
8803-8805 |
IN |
denotes |
in |
| T16003 |
8806-8814 |
NN |
denotes |
pedigree |
| T16004 |
8815-8821 |
NN |
denotes |
member |
| T16005 |
8822-8824 |
CD |
denotes |
23 |
| T16006 |
8824-8826 |
, |
denotes |
, |
| T16007 |
8826-8830 |
IN |
denotes |
with |
| T16008 |
8831-8838 |
JJ |
denotes |
unknown |
| T16009 |
8857-8863 |
NN |
denotes |
status |
| T16010 |
8839-8846 |
NN |
denotes |
disease |
| T16011 |
8847-8856 |
NN |
denotes |
affection |
| T16012 |
8863-8864 |
: |
denotes |
; |
| T16013 |
8865-8867 |
IN |
denotes |
in |
| T16014 |
8868-8869 |
DT |
denotes |
a |
| T16015 |
8892-8899 |
NN |
denotes |
control |
| T16016 |
8870-8884 |
RB |
denotes |
neurologically |
| T16017 |
8885-8891 |
JJ |
denotes |
normal |
| T16018 |
8900-8901 |
-LRB- |
denotes |
( |
| T16019 |
8901-8902 |
NN |
denotes |
C |
| T16020 |
8902-8903 |
-RRB- |
denotes |
) |
| T16021 |
8903-8904 |
: |
denotes |
; |
| T16022 |
8905-8908 |
CC |
denotes |
and |
| T16023 |
8909-8911 |
IN |
denotes |
in |
| T16024 |
8912-8913 |
DT |
denotes |
a |
| T16025 |
8926-8933 |
NN |
denotes |
control |
| T16026 |
8914-8916 |
DT |
denotes |
no |
| T16027 |
8917-8925 |
NN |
denotes |
template |
| T16028 |
8934-8935 |
-LRB- |
denotes |
( |
| T16029 |
8935-8937 |
NN |
denotes |
NC |
| T16030 |
8937-8938 |
-RRB- |
denotes |
) |
| T16031 |
8938-8939 |
. |
denotes |
. |
| T16245 |
12759-12766 |
NNP |
denotes |
Western |
| T16246 |
12767-12771 |
NN |
denotes |
Blot |
| T16247 |
12772-12780 |
NN |
denotes |
Analysis |
| T16248 |
12781-12783 |
IN |
denotes |
of |
| T16249 |
12784-12789 |
NN |
denotes |
ITPR1 |
| T16250 |
12798-12804 |
NNS |
denotes |
Levels |
| T16251 |
12790-12797 |
NN |
denotes |
Protein |
| T16252 |
12805-12807 |
IN |
denotes |
in |
| T16253 |
12808-12811 |
NN |
denotes |
EBV |
| T16254 |
12825-12837 |
NNS |
denotes |
Lymphoblasts |
| T16255 |
12812-12824 |
VBN |
denotes |
Immortalized |
| T16256 |
12838-12842 |
IN |
denotes |
from |
| T16257 |
12843-12847 |
NN |
denotes |
AUS1 |
| T16258 |
12855-12862 |
NNS |
denotes |
Members |
| T16259 |
12848-12854 |
NN |
denotes |
Family |
| T16260 |
12862-13093 |
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 |
12863-12870 |
NNP |
denotes |
Western |
| T16262 |
12871-12875 |
NN |
denotes |
blot |
| T16263 |
12876-12885 |
VBN |
denotes |
performed |
| T16264 |
12886-12888 |
TO |
denotes |
to |
| T16265 |
12889-12896 |
VB |
denotes |
examine |
| T16266 |
12897-12902 |
NN |
denotes |
ITPR1 |
| T16267 |
12903-12909 |
NNS |
denotes |
levels |
| T16268 |
12910-12912 |
IN |
denotes |
in |
| T16269 |
12913-12916 |
NN |
denotes |
EBV |
| T16270 |
12930-12941 |
NNS |
denotes |
lymphocytes |
| T16271 |
12917-12929 |
VBN |
denotes |
immortalized |
| T16272 |
12942-12946 |
IN |
denotes |
from |
| T16273 |
12947-12951 |
NN |
denotes |
AUS1 |
| T16274 |
12952-12960 |
VBN |
denotes |
affected |
| T16275 |
12968-12975 |
NNS |
denotes |
members |
| T16276 |
12961-12967 |
NN |
denotes |
family |
| T16277 |
12976-12984 |
VBG |
denotes |
carrying |
| T16278 |
12985-12988 |
DT |
denotes |
the |
| T16279 |
12995-13003 |
NN |
denotes |
deletion |
| T16280 |
12989-12994 |
NN |
denotes |
ITPR1 |
| T16281 |
13004-13007 |
CC |
denotes |
and |
| T16282 |
13008-13012 |
IN |
denotes |
from |
| T16283 |
13013-13015 |
DT |
denotes |
an |
| T16284 |
13028-13034 |
NN |
denotes |
member |
| T16285 |
13016-13020 |
NN |
denotes |
AUS1 |
| T16286 |
13021-13027 |
NN |
denotes |
family |
| T16287 |
13035-13037 |
IN |
denotes |
of |
| T16288 |
13038-13045 |
JJ |
denotes |
unknown |
| T16289 |
13054-13060 |
NN |
denotes |
status |
| T16290 |
13046-13053 |
NN |
denotes |
disease |
| T16291 |
13061-13064 |
WP |
denotes |
who |
| T16292 |
13074-13079 |
VB |
denotes |
carry |
| T16293 |
13065-13069 |
VBZ |
denotes |
does |
| T16294 |
13070-13073 |
RB |
denotes |
not |
| T16295 |
13080-13083 |
DT |
denotes |
the |
| T16296 |
13084-13092 |
NN |
denotes |
deletion |
| T16297 |
13092-13093 |
. |
denotes |
. |
| T16298 |
13093-13189 |
sentence |
denotes |
Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels. |
| T16299 |
13094-13101 |
RB |
denotes |
Notably |
| T16300 |
13148-13152 |
VBP |
denotes |
show |
| T16301 |
13102-13105 |
DT |
denotes |
the |
| T16302 |
13106-13113 |
NNS |
denotes |
samples |
| T16303 |
13114-13118 |
IN |
denotes |
from |
| T16304 |
13119-13127 |
NNS |
denotes |
patients |
| T16305 |
13128-13132 |
IN |
denotes |
with |
| T16306 |
13133-13138 |
NN |
denotes |
ITPR1 |
| T16307 |
13139-13147 |
NN |
denotes |
deletion |
| T16308 |
13153-13154 |
DT |
denotes |
a |
| T16309 |
13164-13172 |
NN |
denotes |
decrease |
| T16310 |
13155-13163 |
JJ |
denotes |
dramatic |
| T16311 |
13173-13175 |
IN |
denotes |
in |
| T16312 |
13176-13181 |
NN |
denotes |
ITPR1 |
| T16313 |
13182-13188 |
NNS |
denotes |
levels |
| T16314 |
13188-13189 |
. |
denotes |
. |
| T16315 |
13189-13325 |
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 |
13190-13192 |
TO |
denotes |
To |
| T16317 |
13193-13204 |
VB |
denotes |
demonstrate |
| T16318 |
13239-13246 |
VBN |
denotes |
diluted |
| T16319 |
13205-13210 |
JJ |
denotes |
equal |
| T16320 |
13211-13218 |
NN |
denotes |
loading |
| T16321 |
13218-13220 |
, |
denotes |
, |
| T16322 |
13220-13225 |
DT |
denotes |
these |
| T16323 |
13226-13233 |
NNS |
denotes |
samples |
| T16324 |
13234-13238 |
VBD |
denotes |
were |
| T16325 |
13247-13250 |
CD |
denotes |
one |
| T16326 |
13251-13253 |
IN |
denotes |
in |
| T16327 |
13254-13258 |
CD |
denotes |
five |
| T16328 |
13258-13260 |
, |
denotes |
, |
| T16329 |
13260-13263 |
CC |
denotes |
and |
| T16330 |
13264-13267 |
DT |
denotes |
the |
| T16331 |
13276-13280 |
NN |
denotes |
blot |
| T16332 |
13268-13275 |
NNP |
denotes |
Western |
| T16333 |
13285-13293 |
VBN |
denotes |
repeated |
| T16334 |
13281-13284 |
VBD |
denotes |
was |
| T16335 |
13294-13299 |
VBG |
denotes |
using |
| T16336 |
13300-13302 |
DT |
denotes |
an |
| T16339 |
13320-13324 |
NN |
denotes |
ACTB |
| T16340 |
13324-13325 |
. |
denotes |
. |
| 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 |
| 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 |
