PMC:1892049 JSON TXT 9 Projects

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Id	Subject	Object	Predicate	Lexical cue
T871	0-8	NN	denotes	Deletion
T873	0-82	sentence	denotes	Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
T874	9-11	IN	denotes	at
T875	12-17	NNP	denotes	ITPR1
T872	18-27	VBZ	denotes	Underlies
T876	28-34	NN	denotes	Ataxia
T877	35-37	IN	denotes	in
T878	38-42	NNS	denotes	Mice
T879	43-46	CC	denotes	and
T880	47-62	JJ	denotes	Spinocerebellar
T881	63-69	NN	denotes	Ataxia
T882	70-72	CD	denotes	15
T883	73-75	IN	denotes	in
T884	76-82	NNS	denotes	Humans
T887	82-216	sentence	denotes	ITPR1 Deletion Causes Ataxia Abstract We observed a severe autosomal recessive movement disorder in mice used within our laboratory.
T888	122-124	PRP	denotes	We
T889	125-133	VBD	denotes	observed
T890	134-135	DT	denotes	a
T892	136-142	JJ	denotes	severe
T893	143-152	JJ	denotes	autosomal
T894	153-162	JJ	denotes	recessive
T895	163-171	NN	denotes	movement
T891	172-180	NN	denotes	disorder
T896	181-183	IN	denotes	in
T897	184-188	NNS	denotes	mice
T898	189-193	VBN	denotes	used
T899	194-200	IN	denotes	within
T900	201-204	PRP$	denotes	our
T901	205-215	NN	denotes	laboratory
T902	215-216	.	denotes	.
T903	216-382	sentence	denotes	We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus.
T904	217-219	PRP	denotes	We
T905	220-227	VBD	denotes	pursued
T906	228-229	DT	denotes	a
T907	230-236	NN	denotes	series
T908	237-239	IN	denotes	of
T909	240-251	NNS	denotes	experiments
T910	252-254	TO	denotes	to
T911	255-261	VB	denotes	define
T912	262-265	DT	denotes	the
T914	266-273	JJ	denotes	genetic
T913	274-280	NN	denotes	lesion
T915	281-291	VBG	denotes	underlying
T916	292-296	DT	denotes	this
T917	297-305	NN	denotes	disorder
T918	306-309	CC	denotes	and
T919	310-312	TO	denotes	to
T920	313-321	VB	denotes	identify
T921	322-323	DT	denotes	a
T923	324-331	JJ	denotes	cognate
T922	332-339	NN	denotes	disease
T924	340-342	IN	denotes	in
T925	343-349	NNS	denotes	humans
T926	350-354	IN	denotes	with
T927	355-363	NN	denotes	mutation
T928	364-366	IN	denotes	at
T929	367-370	DT	denotes	the
T931	371-375	JJ	denotes	same
T930	376-381	NN	denotes	locus
T932	381-382	.	denotes	.
T933	382-576	sentence	denotes	Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1.
T934	383-390	IN	denotes	Through
T936	391-398	NN	denotes	linkage
T938	399-402	CC	denotes	and
T939	403-411	NN	denotes	sequence
T937	412-420	NN	denotes	analysis
T940	421-423	PRP	denotes	we
T935	424-428	VBP	denotes	show
T941	429-433	RB	denotes	here
T942	434-438	IN	denotes	that
T944	439-443	DT	denotes	this
T945	444-452	NN	denotes	disorder
T946	453-455	VBZ	denotes	is
T943	456-462	VBN	denotes	caused
T947	463-465	IN	denotes	by
T948	466-467	DT	denotes	a
T950	468-478	JJ	denotes	homozygous
T951	479-481	IN	denotes	in
T952	481-482	HYPH	denotes	-
T953	482-487	NN	denotes	frame
T954	488-490	CD	denotes	18
T956	490-491	HYPH	denotes	-
T955	491-493	NN	denotes	bp
T949	494-502	NN	denotes	deletion
T957	503-505	IN	denotes	in
T958	506-511	NN	denotes	Itpr1
T959	512-513	-LRB-	denotes	(
T961	513-518	NN	denotes	Itpr1
T962	518-521	NN	denotes	Δ18
T963	521-522	HYPH	denotes	/
T960	522-525	NN	denotes	Δ18
T964	525-526	-RRB-	denotes	)
T965	526-528	,	denotes	,
T966	528-536	VBG	denotes	encoding
T967	537-545	NN	denotes	inositol
T969	546-547	CD	denotes	1
T971	547-548	,	denotes	,
T972	548-549	CD	denotes	4
T973	549-550	,	denotes	,
T970	550-551	CD	denotes	5
T975	551-552	HYPH	denotes	-
T974	552-564	NN	denotes	triphosphate
T968	565-573	NN	denotes	receptor
T976	574-575	CD	denotes	1
T977	575-576	.	denotes	.
T978	576-685	sentence	denotes	A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here.
T979	577-578	DT	denotes	A
T981	579-589	RB	denotes	previously
T982	590-598	VBN	denotes	reported
T983	599-610	JJ	denotes	spontaneous
T984	611-616	NN	denotes	Itpr1
T980	617-625	NN	denotes	mutation
T986	626-628	IN	denotes	in
T987	629-633	NNS	denotes	mice
T985	634-640	VBZ	denotes	causes
T988	641-642	DT	denotes	a
T989	643-652	NN	denotes	phenotype
T990	653-662	JJ	denotes	identical
T991	663-665	IN	denotes	to
T992	666-670	DT	denotes	that
T993	671-679	VBN	denotes	observed
T994	680-684	RB	denotes	here
T995	684-685	.	denotes	.
T996	685-828	sentence	denotes	In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in cerebellar Purkinje cells.
T997	686-688	IN	denotes	In
T999	689-693	DT	denotes	both
T1000	694-700	NNS	denotes	models
T1001	701-703	IN	denotes	in
T1003	703-704	HYPH	denotes	-
T1002	704-709	NN	denotes	frame
T1004	710-718	NN	denotes	deletion
T1005	719-725	IN	denotes	within
T1006	726-731	NN	denotes	Itpr1
T998	732-737	VBZ	denotes	leads
T1007	738-740	IN	denotes	to
T1008	741-742	DT	denotes	a
T1009	743-751	NN	denotes	decrease
T1010	752-754	IN	denotes	in
T1011	755-758	DT	denotes	the
T1013	759-767	RB	denotes	normally
T1014	768-772	JJ	denotes	high
T1012	773-778	NN	denotes	level
T1015	779-781	IN	denotes	of
T1016	782-787	NN	denotes	Itpr1
T1017	788-798	NN	denotes	expression
T1018	799-801	IN	denotes	in
T1019	802-812	JJ	denotes	cerebellar
T1021	813-821	NNP	denotes	Purkinje
T1020	822-827	NNS	denotes	cells
T1022	827-828	.	denotes	.
T1023	828-1003	sentence	denotes	Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified.
T1024	829-844	JJ	denotes	Spinocerebellar
T1025	845-851	NN	denotes	ataxia
T1027	852-854	CD	denotes	15
T1028	855-856	-LRB-	denotes	(
T1029	856-861	NN	denotes	SCA15
T1030	861-862	-RRB-	denotes	)
T1031	862-864	,	denotes	,
T1032	864-865	DT	denotes	a
T1034	866-871	JJ	denotes	human
T1035	872-881	JJ	denotes	autosomal
T1036	882-890	JJ	denotes	dominant
T1033	891-899	NN	denotes	disorder
T1037	899-901	,	denotes	,
T1026	901-905	VBZ	denotes	maps
T1039	906-908	IN	denotes	to
T1040	909-912	DT	denotes	the
T1042	913-920	JJ	denotes	genomic
T1041	921-927	NN	denotes	region
T1043	928-938	VBG	denotes	containing
T1044	939-944	NN	denotes	ITPR1
T1045	944-945	:	denotes	;
T1046	946-953	RB	denotes	however
T1047	953-955	,	denotes	,
T1048	955-957	IN	denotes	to
T1049	958-962	NN	denotes	date
T1050	963-965	DT	denotes	no
T1052	966-972	JJ	denotes	causal
T1051	973-982	NNS	denotes	mutations
T1053	983-986	VBD	denotes	had
T1054	987-991	VBN	denotes	been
T1038	992-1002	VBN	denotes	identified
T1055	1002-1003	.	denotes	.
T1056	1003-1173	sentence	denotes	Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15.
T1057	1004-1011	IN	denotes	Because
T1059	1012-1018	NN	denotes	ataxia
T1058	1019-1021	VBZ	denotes	is
T1061	1022-1023	DT	denotes	a
T1063	1024-1033	JJ	denotes	prominent
T1062	1034-1041	NN	denotes	feature
T1064	1042-1044	IN	denotes	in
T1065	1045-1050	NN	denotes	Itpr1
T1067	1051-1057	NN	denotes	mutant
T1066	1058-1062	NNS	denotes	mice
T1068	1062-1064	,	denotes	,
T1069	1064-1066	PRP	denotes	we
T1060	1067-1076	VBD	denotes	performed
T1070	1077-1078	DT	denotes	a
T1071	1079-1085	NN	denotes	series
T1072	1086-1088	IN	denotes	of
T1073	1089-1100	NNS	denotes	experiments
T1074	1101-1103	TO	denotes	to
T1075	1104-1108	VB	denotes	test
T1076	1109-1112	DT	denotes	the
T1077	1113-1123	NN	denotes	hypothesis
T1078	1124-1128	IN	denotes	that
T1080	1129-1137	NN	denotes	mutation
T1081	1138-1140	IN	denotes	at
T1082	1141-1146	NN	denotes	ITPR1
T1083	1147-1150	MD	denotes	may
T1079	1151-1153	VB	denotes	be
T1084	1154-1157	DT	denotes	the
T1085	1158-1163	NN	denotes	cause
T1086	1164-1166	IN	denotes	of
T1087	1167-1172	NN	denotes	SCA15
T1088	1172-1173	.	denotes	.
T1089	1173-1341	sentence	denotes	We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans.
T1090	1174-1176	PRP	denotes	We
T1091	1177-1181	VBP	denotes	show
T1092	1182-1186	RB	denotes	here
T1093	1187-1191	IN	denotes	that
T1095	1192-1204	JJ	denotes	heterozygous
T1096	1205-1213	NN	denotes	deletion
T1097	1214-1216	IN	denotes	of
T1098	1217-1220	DT	denotes	the
T1100	1221-1222	CD	denotes	5
T1101	1222-1223	SYM	denotes	′
T1099	1224-1228	NN	denotes	part
T1102	1229-1231	IN	denotes	of
T1103	1232-1235	DT	denotes	the
T1105	1236-1241	NN	denotes	ITPR1
T1104	1242-1246	NN	denotes	gene
T1106	1246-1248	,	denotes	,
T1107	1248-1260	VBG	denotes	encompassing
T1108	1261-1266	NNS	denotes	exons
T1109	1267-1268	CD	denotes	1
T1110	1268-1269	SYM	denotes	–
T1111	1269-1271	CD	denotes	10
T1112	1271-1273	,	denotes	,
T1113	1273-1274	CD	denotes	1
T1114	1274-1275	SYM	denotes	–
T1115	1275-1277	CD	denotes	40
T1116	1277-1279	,	denotes	,
T1117	1279-1282	CC	denotes	and
T1118	1283-1284	CD	denotes	1
T1119	1284-1285	SYM	denotes	–
T1120	1285-1287	CD	denotes	44
T1121	1288-1290	IN	denotes	in
T1122	1291-1296	CD	denotes	three
T1124	1297-1304	VBN	denotes	studied
T1123	1305-1313	NNS	denotes	families
T1125	1313-1315	,	denotes	,
T1094	1315-1324	VBZ	denotes	underlies
T1126	1325-1330	NN	denotes	SCA15
T1127	1331-1333	IN	denotes	in
T1128	1334-1340	NNS	denotes	humans
T1129	1340-1341	.	denotes	.
T1474	2135-2138	DT	denotes	The
T1475	2139-2142	NN	denotes	use
T1477	2143-2145	IN	denotes	of
T1478	2146-2153	JJ	denotes	forward
T1479	2154-2162	NN	denotes	genetics
T1480	2163-2165	TO	denotes	to
T1481	2166-2172	VB	denotes	define
T1482	2173-2178	JJ	denotes	novel
T1483	2179-2183	NNS	denotes	loci
T1484	2184-2186	IN	denotes	of
T1485	2187-2195	NN	denotes	interest
T1486	2196-2198	IN	denotes	in
T1487	2199-2204	JJ	denotes	human
T1488	2205-2212	NN	denotes	disease
T1489	2213-2216	VBZ	denotes	has
T1476	2217-2223	VBN	denotes	become
T1490	2224-2236	RB	denotes	increasingly
T1491	2237-2243	JJ	denotes	viable
T1492	2244-2248	IN	denotes	with
T1493	2249-2252	DT	denotes	the
T1494	2253-2267	NN	denotes	implementation
T1495	2268-2270	IN	denotes	of
T1496	2271-2276	JJ	denotes	large
T1498	2276-2277	HYPH	denotes	-
T1497	2277-2282	NN	denotes	scale
T1500	2283-2294	NN	denotes	mutagenesis
T1499	2295-2303	NNS	denotes	programs
T1501	2303-2304	.	denotes	.
T1502	2304-2460	sentence	denotes	Prior to these initiatives this work was carried out in part by the investigation of spontaneous mutations that cause disorders in mouse breeding colonies.
T1503	2305-2310	RB	denotes	Prior
T1504	2311-2313	IN	denotes	to
T1506	2314-2319	DT	denotes	these
T1507	2320-2331	NNS	denotes	initiatives
T1508	2332-2336	DT	denotes	this
T1509	2337-2341	NN	denotes	work
T1510	2342-2345	VBD	denotes	was
T1505	2346-2353	VBN	denotes	carried
T1511	2354-2357	RP	denotes	out
T1512	2358-2360	IN	denotes	in
T1513	2361-2365	JJ	denotes	part
T1514	2366-2368	IN	denotes	by
T1515	2369-2372	DT	denotes	the
T1516	2373-2386	NN	denotes	investigation
T1517	2387-2389	IN	denotes	of
T1518	2390-2401	JJ	denotes	spontaneous
T1519	2402-2411	NNS	denotes	mutations
T1520	2412-2416	WDT	denotes	that
T1521	2417-2422	VBP	denotes	cause
T1522	2423-2432	NNS	denotes	disorders
T1523	2433-2435	IN	denotes	in
T1524	2436-2441	NN	denotes	mouse
T1526	2442-2450	NN	denotes	breeding
T1525	2451-2459	NNS	denotes	colonies
T1527	2459-2460	.	denotes	.
T1528	2460-2585	sentence	denotes	Careful observation of these serendipitous events has led to the establishment and study of many in vivo disease models [3].
T1529	2461-2468	JJ	denotes	Careful
T1530	2469-2480	NN	denotes	observation
T1532	2481-2483	IN	denotes	of
T1533	2484-2489	DT	denotes	these
T1535	2490-2503	JJ	denotes	serendipitous
T1534	2504-2510	NNS	denotes	events
T1536	2511-2514	VBZ	denotes	has
T1531	2515-2518	VBN	denotes	led
T1537	2519-2521	IN	denotes	to
T1538	2522-2525	DT	denotes	the
T1539	2526-2539	NN	denotes	establishment
T1540	2540-2543	CC	denotes	and
T1541	2544-2549	NN	denotes	study
T1542	2550-2552	IN	denotes	of
T1543	2553-2557	JJ	denotes	many
T1545	2558-2560	FW	denotes	in
T1546	2561-2565	FW	denotes	vivo
T1547	2566-2573	NN	denotes	disease
T1544	2574-2580	NNS	denotes	models
T1548	2581-2582	-LRB-	denotes	[
T1549	2582-2583	CD	denotes	3
T1550	2583-2584	-RRB-	denotes	]
T1551	2584-2585	.	denotes	.
T1552	2585-2737	sentence	denotes	During the generation of a knockout line of mice we noted an early movement disorder that was inherited independently of targeting vector transmission.
T1553	2586-2592	IN	denotes	During
T1555	2593-2596	DT	denotes	the
T1556	2597-2607	NN	denotes	generation
T1557	2608-2610	IN	denotes	of
T1558	2611-2612	DT	denotes	a
T1560	2613-2621	NN	denotes	knockout
T1559	2622-2626	NN	denotes	line
T1561	2627-2629	IN	denotes	of
T1562	2630-2634	NNS	denotes	mice
T1563	2635-2637	PRP	denotes	we
T1554	2638-2643	VBD	denotes	noted
T1564	2644-2646	DT	denotes	an
T1566	2647-2652	JJ	denotes	early
T1567	2653-2661	NN	denotes	movement
T1565	2662-2670	NN	denotes	disorder
T1568	2671-2675	WDT	denotes	that
T1570	2676-2679	VBD	denotes	was
T1569	2680-2689	VBN	denotes	inherited
T1571	2690-2703	RB	denotes	independently
T1572	2704-2706	IN	denotes	of
T1573	2707-2716	VBG	denotes	targeting
T1574	2717-2723	NN	denotes	vector
T1575	2724-2736	NN	denotes	transmission
T1576	2736-2737	.	denotes	.
T1577	2737-2913	sentence	denotes	We embarked on a series of experiments to identify the genetic lesion underlying this movement disorder and to identify a cognate disease and corresponding mutation in humans.
T1578	2738-2740	PRP	denotes	We
T1579	2741-2749	VBD	denotes	embarked
T1580	2750-2752	IN	denotes	on
T1581	2753-2754	DT	denotes	a
T1582	2755-2761	NN	denotes	series
T1583	2762-2764	IN	denotes	of
T1584	2765-2776	NNS	denotes	experiments
T1585	2777-2779	TO	denotes	to
T1586	2780-2788	VB	denotes	identify
T1587	2789-2792	DT	denotes	the
T1589	2793-2800	JJ	denotes	genetic
T1588	2801-2807	NN	denotes	lesion
T1590	2808-2818	VBG	denotes	underlying
T1591	2819-2823	DT	denotes	this
T1593	2824-2832	NN	denotes	movement
T1592	2833-2841	NN	denotes	disorder
T1594	2842-2845	CC	denotes	and
T1595	2846-2848	TO	denotes	to
T1596	2849-2857	VB	denotes	identify
T1597	2858-2859	DT	denotes	a
T1599	2860-2867	JJ	denotes	cognate
T1598	2868-2875	NN	denotes	disease
T1600	2876-2879	CC	denotes	and
T1601	2880-2893	VBG	denotes	corresponding
T1602	2894-2902	NN	denotes	mutation
T1603	2903-2905	IN	denotes	in
T1604	2906-2912	NNS	denotes	humans
T1605	2912-2913	.	denotes	.
T1606	2913-3079	sentence	denotes	Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans.
T1607	2914-2918	RB	denotes	Here
T1609	2919-2921	PRP	denotes	we
T1608	2922-2930	VBP	denotes	describe
T1610	2931-2935	DT	denotes	this
T1611	2936-2942	NN	denotes	effort
T1612	2943-2946	CC	denotes	and
T1613	2947-2950	DT	denotes	the
T1614	2951-2960	NN	denotes	discovery
T1615	2961-2963	IN	denotes	of
T1616	2964-2972	NN	denotes	deletion
T1617	2973-2975	IN	denotes	at
T1618	2976-2979	DT	denotes	the
T1620	2980-2985	NN	denotes	ITPR1
T1619	2986-2991	NN	denotes	locus
T1621	2992-2994	IN	denotes	as
T1622	2995-2996	DT	denotes	a
T1623	2997-3002	NN	denotes	cause
T1624	3003-3005	IN	denotes	of
T1625	3006-3010	DT	denotes	this
T1626	3011-3019	NN	denotes	disorder
T1627	3020-3022	IN	denotes	in
T1628	3023-3027	NNS	denotes	mice
T1629	3028-3031	CC	denotes	and
T1630	3032-3034	IN	denotes	of
T1631	3035-3050	JJ	denotes	spinocerebellar
T1632	3051-3057	NN	denotes	ataxia
T1633	3058-3060	CD	denotes	15
T1634	3061-3062	-LRB-	denotes	(
T1635	3062-3067	NN	denotes	SCA15
T1636	3067-3068	-RRB-	denotes	)
T1637	3069-3071	IN	denotes	in
T1638	3072-3078	NNS	denotes	humans
T1639	3078-3079	.	denotes	.
T6363	3100-3106	IN	denotes	During
T6365	3107-3110	DT	denotes	the
T6366	3111-3121	NN	denotes	generation
T6367	3122-3124	IN	denotes	of
T6368	3125-3126	DT	denotes	a
T6369	3127-3131	NN	denotes	line
T6370	3132-3134	IN	denotes	of
T6371	3135-3139	NNS	denotes	mice
T6372	3140-3144	IN	denotes	with
T6373	3145-3153	NN	denotes	knockout
T6374	3154-3156	IN	denotes	of
T6375	3157-3160	DT	denotes	the
T6376	3161-3165	NN	denotes	gene
T6377	3166-3171	NN	denotes	Park7
T6378	3172-3174	PRP	denotes	we
T6364	3175-3180	VBD	denotes	noted
T6379	3181-3183	DT	denotes	an
T6381	3184-3189	JJ	denotes	early
T6382	3190-3198	NN	denotes	movement
T6380	3199-3207	NN	denotes	disorder
T6383	3208-3212	WDT	denotes	that
T6385	3213-3216	VBD	denotes	was
T6384	3217-3226	VBN	denotes	inherited
T6386	3227-3240	RB	denotes	independently
T6387	3241-3243	IN	denotes	of
T6388	3244-3253	NN	denotes	targeting
T6389	3254-3260	NN	denotes	vector
T6390	3261-3273	NN	denotes	transmission
T6391	3273-3274	.	denotes	.
T6392	3274-3409	sentence	denotes	Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch.
T6393	3275-3278	PRP$	denotes	Our
T6395	3279-3286	JJ	denotes	initial
T6394	3287-3299	NNS	denotes	observations
T6396	3300-3309	VBD	denotes	suggested
T6397	3310-3313	DT	denotes	the
T6399	3314-3322	VBN	denotes	affected
T6398	3323-3327	NNS	denotes	mice
T6400	3328-3336	VBD	denotes	suffered
T6401	3337-3341	IN	denotes	from
T6402	3342-3344	DT	denotes	an
T6404	3345-3355	RB	denotes	apparently
T6405	3356-3366	JJ	denotes	paroxysmal
T6406	3367-3375	NN	denotes	movement
T6403	3376-3384	NN	denotes	disorder
T6407	3384-3386	,	denotes	,
T6408	3386-3391	RB	denotes	often
T6409	3392-3399	VBN	denotes	induced
T6410	3400-3402	IN	denotes	by
T6411	3403-3408	NN	denotes	touch
T6412	3408-3409	.	denotes	.
T6413	3409-3520	sentence	denotes	The abnormal movements occurred predominantly below the cervical level, and the disorder appeared progressive.
T6414	3410-3413	DT	denotes	The
T6416	3414-3422	JJ	denotes	abnormal
T6415	3423-3432	NNS	denotes	movements
T6417	3433-3441	VBD	denotes	occurred
T6418	3442-3455	RB	denotes	predominantly
T6419	3456-3461	IN	denotes	below
T6420	3462-3465	DT	denotes	the
T6422	3466-3474	JJ	denotes	cervical
T6421	3475-3480	NN	denotes	level
T6423	3480-3482	,	denotes	,
T6424	3482-3485	CC	denotes	and
T6425	3486-3489	DT	denotes	the
T6426	3490-3498	NN	denotes	disorder
T6427	3499-3507	VBD	denotes	appeared
T6428	3508-3519	JJ	denotes	progressive
T6429	3519-3520	.	denotes	.
T6430	3520-3755	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	3521-3523	IN	denotes	At
T6433	3524-3531	JJ	denotes	initial
T6434	3532-3543	NN	denotes	examination
T6435	3543-3545	,	denotes	,
T6436	3545-3546	DT	denotes	a
T6438	3547-3552	JJ	denotes	human
T6440	3553-3561	NN	denotes	movement
T6439	3562-3570	NN	denotes	disorder
T6437	3571-3581	NN	denotes	specialist
T6441	3582-3583	-LRB-	denotes	(
T6443	3583-3585	NNP	denotes	K.
T6444	3586-3588	NNP	denotes	G.
T6445	3588-3589	HYPH	denotes	-
T6442	3589-3591	NNP	denotes	H.
T6446	3591-3592	-RRB-	denotes	)
T6432	3593-3600	VBD	denotes	likened
T6447	3601-3604	DT	denotes	the
T6448	3605-3613	NN	denotes	disorder
T6449	3614-3616	IN	denotes	to
T6450	3617-3625	JJ	denotes	episodic
T6452	3626-3638	JJ	denotes	intermittent
T6451	3639-3645	NN	denotes	ataxia
T6453	3646-3648	CC	denotes	or
T6454	3649-3661	JJ	denotes	kinesiogenic
T6456	3662-3672	JJ	denotes	paroxysmal
T6455	3673-3681	NN	denotes	dystonia
T6457	3682-3685	CC	denotes	and
T6458	3686-3695	VBD	denotes	predicted
T6459	3696-3699	DT	denotes	the
T6460	3700-3711	NN	denotes	involvement
T6461	3712-3714	IN	denotes	of
T6462	3715-3717	DT	denotes	an
T6464	3718-3721	NN	denotes	ion
T6465	3722-3729	NN	denotes	channel
T6463	3730-3738	NN	denotes	mutation
T6466	3739-3741	IN	denotes	in
T6467	3742-3745	DT	denotes	the
T6468	3746-3754	NN	denotes	etiology
T6469	3754-3755	.	denotes	.
T6470	3755-3881	sentence	denotes	Affected mice presented at approximately postnatal day 14, and survival time without weaning was on average 4 wk after onset.
T6471	3756-3764	VBN	denotes	Affected
T6472	3765-3769	NNS	denotes	mice
T6473	3770-3779	VBD	denotes	presented
T6474	3780-3782	IN	denotes	at
T6475	3783-3796	RB	denotes	approximately
T6477	3797-3806	JJ	denotes	postnatal
T6476	3807-3810	NN	denotes	day
T6478	3811-3813	CD	denotes	14
T6479	3813-3815	,	denotes	,
T6480	3815-3818	CC	denotes	and
T6481	3819-3827	NN	denotes	survival
T6482	3828-3832	NN	denotes	time
T6484	3833-3840	IN	denotes	without
T6485	3841-3848	NN	denotes	weaning
T6483	3849-3852	VBD	denotes	was
T6486	3853-3855	IN	denotes	on
T6487	3856-3863	JJ	denotes	average
T6488	3864-3865	CD	denotes	4
T6489	3866-3868	NN	denotes	wk
T6490	3869-3874	IN	denotes	after
T6491	3875-3880	NN	denotes	onset
T6492	3880-3881	.	denotes	.
T6493	3881-3987	sentence	denotes	Breeding experiments suggested that the observed disorder was inherited in an autosomal recessive manner.
T6494	3882-3890	NN	denotes	Breeding
T6495	3891-3902	NNS	denotes	experiments
T6496	3903-3912	VBD	denotes	suggested
T6497	3913-3917	IN	denotes	that
T6499	3918-3921	DT	denotes	the
T6501	3922-3930	VBN	denotes	observed
T6500	3931-3939	NN	denotes	disorder
T6502	3940-3943	VBD	denotes	was
T6498	3944-3953	VBN	denotes	inherited
T6503	3954-3956	IN	denotes	in
T6504	3957-3959	DT	denotes	an
T6506	3960-3969	JJ	denotes	autosomal
T6507	3970-3979	JJ	denotes	recessive
T6505	3980-3986	NN	denotes	manner
T6508	3986-3987	.	denotes	.
T6509	3987-4178	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	3988-3990	TO	denotes	To
T6511	3991-3994	VB	denotes	map
T6513	3995-3998	DT	denotes	the
T6514	3999-4007	NN	denotes	location
T6515	4008-4010	IN	denotes	of
T6516	4011-4014	DT	denotes	the
T6518	4015-4022	NN	denotes	disease
T6520	4022-4023	HYPH	denotes	-
T6519	4023-4030	VBG	denotes	causing
T6517	4031-4037	NN	denotes	lesion
T6521	4037-4039	,	denotes	,
T6522	4039-4041	PRP	denotes	we
T6512	4042-4051	VBD	denotes	performed
T6523	4052-4058	NN	denotes	genome
T6525	4058-4059	HYPH	denotes	-
T6524	4059-4063	JJ	denotes	wide
T6527	4064-4071	NN	denotes	linkage
T6526	4072-4080	NN	denotes	analysis
T6528	4081-4086	VBG	denotes	using
T6529	4087-4093	NN	denotes	strain
T6531	4093-4094	HYPH	denotes	-
T6530	4094-4102	JJ	denotes	specific
T6533	4103-4109	JJ	denotes	single
T6534	4110-4120	NN	denotes	nucleotide
T6532	4121-4134	NNS	denotes	polymorphisms
T6535	4135-4136	-LRB-	denotes	(
T6536	4136-4140	NNS	denotes	SNPs
T6537	4140-4141	-RRB-	denotes	)
T6538	4142-4144	IN	denotes	at
T6539	4145-4148	CD	denotes	120
T6540	4149-4153	NNS	denotes	loci
T6541	4154-4160	IN	denotes	across
T6542	4161-4164	DT	denotes	the
T6544	4165-4170	NN	denotes	mouse
T6543	4171-4177	NN	denotes	genome
T6545	4177-4178	.	denotes	.
T6546	4178-4354	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	4179-4187	NN	denotes	Analysis
T6549	4188-4190	IN	denotes	of
T6550	4191-4196	DT	denotes	these
T6551	4197-4201	NNS	denotes	data
T6548	4202-4208	VBD	denotes	showed
T6552	4209-4210	DT	denotes	a
T6554	4211-4217	JJ	denotes	single
T6555	4218-4225	JJ	denotes	genomic
T6553	4226-4232	NN	denotes	region
T6556	4233-4237	IN	denotes	with
T6557	4238-4249	JJ	denotes	significant
T6558	4250-4257	NN	denotes	linkage
T6559	4258-4260	IN	denotes	to
T6560	4261-4268	NN	denotes	disease
T6561	4268-4270	,	denotes	,
T6562	4270-4279	VBG	denotes	providing
T6563	4280-4281	DT	denotes	a
T6565	4282-4285	CD	denotes	two
T6567	4285-4286	HYPH	denotes	-
T6566	4286-4291	NN	denotes	point
T6568	4292-4295	NN	denotes	LOD
T6564	4296-4301	NN	denotes	score
T6569	4302-4304	IN	denotes	of
T6570	4305-4309	CD	denotes	5.13
T6571	4310-4312	IN	denotes	at
T6572	4313-4319	NN	denotes	marker
T6573	4320-4334	NN	denotes	20.MMHAP85FLG2
T6574	4335-4337	IN	denotes	on
T6575	4338-4348	NN	denotes	Chromosome
T6576	4349-4353	NN	denotes	6qE1
T6577	4353-4354	.	denotes	.
T6578	4354-4452	sentence	denotes	The linked haplotype suggested the mutation had occurred on the 129x1/SvJ background (Figure S1).
T6579	4355-4358	DT	denotes	The
T6581	4359-4365	VBN	denotes	linked
T6580	4366-4375	NN	denotes	haplotype
T6582	4376-4385	VBD	denotes	suggested
T6583	4386-4389	DT	denotes	the
T6584	4390-4398	NN	denotes	mutation
T6586	4399-4402	VBD	denotes	had
T6585	4403-4411	VBN	denotes	occurred
T6587	4412-4414	IN	denotes	on
T6588	4415-4418	DT	denotes	the
T6590	4419-4424	NN	denotes	129x1
T6592	4424-4425	HYPH	denotes	/
T6591	4425-4428	NN	denotes	SvJ
T6589	4429-4439	NN	denotes	background
T6593	4440-4441	-LRB-	denotes	(
T6595	4441-4447	NN	denotes	Figure
T6594	4448-4450	NN	denotes	S1
T6596	4450-4451	-RRB-	denotes	)
T6597	4451-4452	.	denotes	.
T6598	4452-4626	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	4453-4463	NN	denotes	Literature
T6600	4464-4472	NNS	denotes	searches
T6601	4473-4481	VBD	denotes	revealed
T6602	4482-4486	IN	denotes	that
T6604	4487-4492	IN	denotes	among
T6605	4493-4500	NN	denotes	disease
T6606	4501-4506	NNS	denotes	lines
T6607	4507-4513	VBN	denotes	mapped
T6608	4514-4516	IN	denotes	to
T6609	4517-4521	NN	denotes	6qE1
T6610	4521-4523	,	denotes	,
T6611	4523-4526	DT	denotes	the
T6613	4527-4538	JJ	denotes	spontaneous
T6612	4539-4545	NN	denotes	mutant
T6614	4546-4549	NN	denotes	opt
T6615	4550-4555	NN	denotes	mouse
T6603	4556-4564	VBZ	denotes	displays
T6616	4565-4566	DT	denotes	a
T6618	4567-4577	RB	denotes	strikingly
T6619	4578-4585	JJ	denotes	similar
T6617	4586-4598	NN	denotes	presentation
T6620	4599-4601	IN	denotes	to
T6621	4602-4606	DT	denotes	that
T6622	4607-4616	VBN	denotes	described
T6623	4617-4621	RB	denotes	here
T6624	4622-4623	-LRB-	denotes	[
T6625	4623-4624	CD	denotes	1
T6626	4624-4625	-RRB-	denotes	]
T6627	4625-4626	.	denotes	.
T6628	4626-4827	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	4627-4630	DT	denotes	The
T6631	4631-4641	VBG	denotes	underlying
T6632	4642-4649	JJ	denotes	genetic
T6630	4650-4656	NN	denotes	lesion
T6634	4657-4664	VBG	denotes	causing
T6635	4665-4668	DT	denotes	the
T6637	4669-4672	NN	denotes	opt
T6636	4673-4682	NN	denotes	phenotype
T6633	4683-4685	VBZ	denotes	is
T6638	4686-4687	DT	denotes	a
T6640	4688-4698	JJ	denotes	homozygous
T6641	4699-4701	IN	denotes	in
T6643	4701-4702	HYPH	denotes	-
T6642	4702-4707	NN	denotes	frame
T6639	4708-4716	NN	denotes	deletion
T6644	4717-4719	IN	denotes	of
T6645	4720-4725	NNS	denotes	exons
T6646	4726-4728	CD	denotes	43
T6647	4729-4732	CC	denotes	and
T6648	4733-4735	CD	denotes	44
T6649	4736-4738	IN	denotes	of
T6650	4739-4742	DT	denotes	the
T6652	4743-4747	NN	denotes	gene
T6651	4748-4753	NN	denotes	Itpr1
T6653	4754-4755	-LRB-	denotes	(
T6655	4755-4763	NN	denotes	Itpr1opt
T6656	4764-4765	HYPH	denotes	/
T6654	4765-4768	NN	denotes	opt
T6657	4768-4769	-RRB-	denotes	)
T6658	4769-4771	,	denotes	,
T6659	4771-4779	VBG	denotes	encoding
T6660	4780-4788	NN	denotes	inositol
T6662	4789-4790	CD	denotes	1
T6664	4790-4791	,	denotes	,
T6665	4791-4792	CD	denotes	4
T6666	4792-4793	,	denotes	,
T6663	4793-4794	CD	denotes	5
T6668	4794-4795	HYPH	denotes	-
T6667	4795-4807	NN	denotes	triphosphate
T6661	4808-4816	NN	denotes	receptor
T6669	4817-4818	CD	denotes	1
T6670	4819-4820	-LRB-	denotes	(
T6671	4820-4825	NN	denotes	Itpr1
T6672	4825-4826	-RRB-	denotes	)
T6673	4826-4827	.	denotes	.
T6674	4827-5034	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	4828-4838	NN	denotes	Sequencing
T6677	4839-4841	IN	denotes	of
T6678	4842-4845	DT	denotes	all
T6679	4846-4851	NNS	denotes	exons
T6680	4852-4855	CC	denotes	and
T6681	4856-4862	NN	denotes	intron
T6683	4862-4863	HYPH	denotes	–
T6682	4863-4867	NN	denotes	exon
T6684	4868-4878	NNS	denotes	boundaries
T6685	4879-4881	IN	denotes	of
T6686	4882-4887	NN	denotes	Itpr1
T6687	4888-4890	IN	denotes	in
T6688	4891-4899	VBN	denotes	affected
T6689	4900-4904	NNS	denotes	mice
T6690	4905-4909	IN	denotes	from
T6691	4910-4913	DT	denotes	the
T6693	4914-4921	JJ	denotes	current
T6692	4922-4927	NN	denotes	study
T6676	4928-4936	VBD	denotes	revealed
T6694	4937-4938	DT	denotes	a
T6696	4939-4945	JJ	denotes	single
T6695	4946-4954	NN	denotes	mutation
T6697	4955-4961	IN	denotes	within
T6698	4962-4967	NN	denotes	Itpr1
T6699	4967-4969	:	denotes	:
T6700	4969-4970	DT	denotes	a
T6702	4971-4976	JJ	denotes	novel
T6703	4977-4979	IN	denotes	in
T6704	4979-4980	HYPH	denotes	-
T6705	4980-4985	NN	denotes	frame
T6701	4986-4994	NN	denotes	deletion
T6706	4995-4997	IN	denotes	of
T6707	4998-5000	CD	denotes	18
T6708	5001-5003	NN	denotes	bp
T6709	5004-5010	IN	denotes	within
T6710	5011-5015	NN	denotes	exon
T6711	5016-5018	CD	denotes	36
T6712	5019-5020	-LRB-	denotes	(
T6714	5020-5028	NN	denotes	Itpr1Δ18
T6715	5028-5029	HYPH	denotes	/
T6713	5029-5032	NN	denotes	Δ18
T6716	5032-5033	-RRB-	denotes	)
T6717	5033-5034	.	denotes	.
T6718	5034-5205	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	5035-5037	TO	denotes	To
T6720	5038-5045	VB	denotes	confirm
T6722	5046-5049	DT	denotes	the
T6723	5050-5063	NN	denotes	pathogenicity
T6724	5064-5066	IN	denotes	of
T6725	5067-5071	DT	denotes	this
T6726	5072-5080	NN	denotes	mutation
T6727	5081-5083	PRP	denotes	we
T6721	5084-5091	VBD	denotes	crossed
T6728	5092-5104	JJ	denotes	heterozygous
T6729	5105-5109	NNS	denotes	mice
T6730	5110-5114	IN	denotes	from
T6731	5115-5118	DT	denotes	the
T6733	5119-5126	JJ	denotes	current
T6732	5127-5132	NN	denotes	study
T6734	5133-5134	-LRB-	denotes	(
T6736	5134-5141	NN	denotes	Itpr1wt
T6737	5141-5142	HYPH	denotes	/
T6735	5142-5145	NN	denotes	Δ18
T6738	5145-5146	-RRB-	denotes	)
T6739	5147-5151	IN	denotes	with
T6740	5152-5156	NNS	denotes	mice
T6741	5157-5169	JJ	denotes	heterozygous
T6742	5170-5173	IN	denotes	for
T6743	5174-5177	DT	denotes	the
T6745	5178-5181	NN	denotes	opt
T6744	5182-5190	NN	denotes	mutation
T6746	5191-5192	-LRB-	denotes	(
T6748	5192-5199	NN	denotes	Itpr1wt
T6749	5199-5200	HYPH	denotes	/
T6747	5200-5203	NN	denotes	opt
T6750	5203-5204	-RRB-	denotes	)
T6751	5204-5205	.	denotes	.
T6752	5205-5404	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	5206-5210	DT	denotes	This
T6754	5211-5219	VBD	denotes	resulted
T6755	5220-5222	IN	denotes	in
T6756	5223-5226	CD	denotes	two
T6757	5227-5234	NNS	denotes	litters
T6758	5235-5237	IN	denotes	of
T6759	5238-5242	NNS	denotes	mice
T6760	5243-5247	IN	denotes	with
T6761	5248-5249	DT	denotes	a
T6762	5250-5255	NN	denotes	total
T6763	5256-5258	IN	denotes	of
T6764	5259-5263	CD	denotes	four
T6766	5264-5272	VBN	denotes	affected
T6767	5273-5281	NN	denotes	Itpr1opt
T6769	5281-5282	HYPH	denotes	/
T6768	5282-5285	NN	denotes	Δ18
T6765	5286-5290	NNS	denotes	pups
T6770	5291-5292	-LRB-	denotes	(
T6771	5292-5296	IN	denotes	from
T6772	5297-5298	DT	denotes	a
T6773	5299-5304	NN	denotes	total
T6774	5305-5307	IN	denotes	of
T6775	5308-5310	CD	denotes	15
T6776	5310-5311	-RRB-	denotes	)
T6777	5312-5316	IN	denotes	with
T6778	5317-5318	DT	denotes	a
T6779	5319-5328	NN	denotes	phenotype
T6780	5329-5346	JJ	denotes	indistinguishable
T6781	5347-5351	IN	denotes	from
T6782	5352-5356	DT	denotes	that
T6783	5357-5359	IN	denotes	of
T6784	5360-5363	DT	denotes	the
T6786	5364-5372	NN	denotes	Itpr1Δ18
T6788	5372-5373	HYPH	denotes	/
T6787	5373-5376	NN	denotes	Δ18
T6789	5377-5380	CC	denotes	and
T6790	5381-5389	NN	denotes	Itpr1opt
T6792	5390-5391	HYPH	denotes	/
T6791	5391-5394	NN	denotes	opt
T6785	5395-5399	NNS	denotes	mice
T6793	5400-5401	-LRB-	denotes	[
T6794	5401-5402	CD	denotes	1
T6795	5402-5403	-RRB-	denotes	]
T6796	5403-5404	.	denotes	.
T6797	5404-5589	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	5405-5416	RB	denotes	Furthermore
T6800	5416-5418	,	denotes	,
T6801	5418-5422	DT	denotes	this
T6802	5423-5432	NN	denotes	phenotype
T6799	5433-5436	VBD	denotes	was
T6803	5437-5444	JJ	denotes	similar
T6804	5444-5446	,	denotes	,
T6805	5446-5454	IN	denotes	although
T6807	5455-5459	RBR	denotes	less
T6806	5460-5466	JJ	denotes	severe
T6808	5466-5468	,	denotes	,
T6809	5468-5470	IN	denotes	to
T6810	5471-5475	DT	denotes	that
T6811	5476-5485	VBN	denotes	described
T6812	5486-5488	IN	denotes	in
T6813	5489-5490	DT	denotes	a
T6815	5491-5496	NN	denotes	mouse
T6814	5497-5501	NN	denotes	line
T6816	5502-5506	IN	denotes	with
T6817	5507-5515	VBN	denotes	targeted
T6818	5516-5524	NN	denotes	deletion
T6819	5525-5527	IN	denotes	of
T6820	5528-5533	NN	denotes	Itpr1
T6821	5533-5535	,	denotes	,
T6822	5535-5540	WRB	denotes	where
T6824	5541-5547	NN	denotes	ataxia
T6825	5548-5551	VBD	denotes	was
T6823	5552-5561	VBN	denotes	described
T6826	5562-5564	IN	denotes	as
T6827	5565-5566	DT	denotes	a
T6829	5567-5576	JJ	denotes	prominent
T6828	5577-5584	NN	denotes	feature
T6830	5585-5586	-LRB-	denotes	[
T6831	5586-5587	CD	denotes	4
T6832	5587-5588	-RRB-	denotes	]
T6833	5588-5589	.	denotes	.
T6834	5589-5850	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	5590-5592	IN	denotes	As
T6837	5593-5597	IN	denotes	with
T6838	5598-5601	DT	denotes	the
T6840	5602-5610	NN	denotes	Itpr1opt
T6842	5611-5612	HYPH	denotes	/
T6841	5612-5615	NN	denotes	opt
T6839	5616-5620	NNS	denotes	mice
T6843	5620-5622	,	denotes	,
T6844	5622-5627	WRB	denotes	where
T6846	5628-5631	DT	denotes	the
T6847	5632-5640	NN	denotes	deletion
T6848	5641-5643	IN	denotes	of
T6849	5644-5649	NNS	denotes	exons
T6850	5650-5652	CD	denotes	43
T6851	5653-5656	CC	denotes	and
T6852	5657-5659	CD	denotes	44
T6853	5660-5662	VBZ	denotes	is
T6854	5663-5667	RB	denotes	also
T6845	5668-5677	VBN	denotes	predicted
T6855	5678-5680	TO	denotes	to
T6856	5681-5686	VB	denotes	leave
T6857	5687-5690	DT	denotes	the
T6859	5691-5704	JJ	denotes	translational
T6860	5705-5712	NN	denotes	reading
T6858	5713-5718	NN	denotes	frame
T6861	5719-5729	JJ	denotes	unaffected
T6862	5729-5731	,	denotes	,
T6863	5731-5734	DT	denotes	the
T6865	5735-5737	IN	denotes	in
T6866	5737-5738	HYPH	denotes	-
T6867	5738-5743	NN	denotes	frame
T6868	5744-5752	NN	denotes	Itpr1Δ18
T6870	5752-5753	HYPH	denotes	/
T6869	5753-5756	NN	denotes	Δ18
T6871	5757-5765	NN	denotes	deletion
T6864	5766-5774	NN	denotes	mutation
T6836	5775-5782	VBZ	denotes	results
T6872	5783-5785	IN	denotes	in
T6873	5786-5794	RB	denotes	markedly
T6874	5795-5804	VBN	denotes	decreased
T6875	5805-5811	NNS	denotes	levels
T6876	5812-5814	IN	denotes	of
T6877	5815-5820	NN	denotes	Itpr1
T6878	5821-5823	IN	denotes	in
T6879	5824-5834	JJ	denotes	cerebellar
T6881	5835-5843	NNP	denotes	Purkinje
T6880	5844-5849	NNS	denotes	cells
T6882	5849-5850	.	denotes	.
T6883	5850-6058	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	5851-5853	IN	denotes	In
T6886	5854-5859	DT	denotes	these
T6888	5860-5863	CD	denotes	two
T6889	5864-5875	JJ	denotes	spontaneous
T6887	5876-5883	NNS	denotes	mutants
T6890	5884-5885	-LRB-	denotes	[
T6891	5885-5886	CD	denotes	1
T6892	5886-5887	-RRB-	denotes	]
T6893	5888-5891	CC	denotes	and
T6894	5892-5894	IN	denotes	in
T6895	5895-5898	DT	denotes	the
T6897	5899-5904	NN	denotes	Itpr1
T6899	5904-5905	HYPH	denotes	-
T6898	5905-5914	JJ	denotes	deficient
T6896	5915-5920	NN	denotes	mouse
T6900	5921-5922	-LRB-	denotes	[
T6901	5922-5923	CD	denotes	4
T6902	5923-5924	-RRB-	denotes	]
T6903	5925-5934	VBN	denotes	generated
T6904	5935-5937	IN	denotes	by
T6905	5938-5942	NN	denotes	gene
T6906	5943-5952	NN	denotes	targeting
T6907	5952-5954	,	denotes	,
T6908	5954-5963	VBN	denotes	decreased
T6910	5964-5969	NN	denotes	Itpr1
T6909	5970-5980	NN	denotes	expression
T6911	5981-5983	VBZ	denotes	is
T6885	5984-5994	VBN	denotes	associated
T6912	5995-5999	IN	denotes	with
T6913	6000-6003	DT	denotes	the
T6915	6004-6008	JJ	denotes	same
T6916	6009-6018	JJ	denotes	autosomal
T6917	6019-6028	JJ	denotes	recessive
T6918	6029-6037	NN	denotes	movement
T6914	6038-6046	NN	denotes	disorder
T6919	6047-6048	-LRB-	denotes	(
T6920	6048-6054	NN	denotes	Figure
T6921	6055-6056	CD	denotes	1
T6922	6056-6057	-RRB-	denotes	)
T6923	6057-6058	.	denotes	.
T6924	6058-7247	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.
T14399	6069-6089	NN	denotes	Immunohistochemistry
T14400	6090-6093	CC	denotes	and
T14401	6094-6101	NNP	denotes	Western
T14402	6102-6106	NN	denotes	Blot
T14403	6107-6115	NN	denotes	Analysis
T14404	6116-6118	IN	denotes	of
T14405	6119-6124	NN	denotes	ITPR1
T14407	6125-6132	NN	denotes	Protein
T14406	6133-6139	NNS	denotes	Levels
T14408	6140-6142	IN	denotes	in
T14409	6143-6148	NN	denotes	Mouse
T14410	6149-6159	NN	denotes	Cerebellum
T14411	6159-6358	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	6160-6161	-LRB-	denotes	(
T14413	6161-6162	LS	denotes	A
T14415	6162-6163	SYM	denotes	–
T14416	6163-6164	LS	denotes	F
T14417	6164-6165	-RRB-	denotes	)
T14414	6166-6186	NN	denotes	Immunohistochemistry
T14418	6187-6189	IN	denotes	of
T14419	6190-6200	NN	denotes	cerebellum
T14420	6201-6205	IN	denotes	from
T14421	6206-6207	DT	denotes	a
T14423	6208-6212	JJ	denotes	wild
T14425	6212-6213	HYPH	denotes	-
T14424	6213-6217	NN	denotes	type
T14422	6218-6223	NN	denotes	mouse
T14426	6224-6225	-LRB-	denotes	(
T14427	6225-6226	NN	denotes	A
T14428	6227-6230	CC	denotes	and
T14429	6231-6232	NN	denotes	D
T14430	6232-6233	-RRB-	denotes	)
T14431	6233-6235	,	denotes	,
T14432	6235-6236	DT	denotes	a
T14433	6237-6242	NN	denotes	mouse
T14434	6243-6255	JJ	denotes	heterozygous
T14435	6256-6259	IN	denotes	for
T14436	6260-6263	DT	denotes	the
T14438	6264-6269	NN	denotes	Itpr1
T14439	6270-6272	CD	denotes	18
T14441	6272-6273	HYPH	denotes	-
T14440	6273-6275	NN	denotes	bp
T14437	6276-6284	NN	denotes	deletion
T14442	6285-6286	-LRB-	denotes	(
T14443	6286-6287	NN	denotes	B
T14444	6288-6291	CC	denotes	and
T14445	6292-6293	NN	denotes	E
T14446	6293-6294	-RRB-	denotes	)
T14447	6294-6296	,	denotes	,
T14448	6296-6299	CC	denotes	and
T14449	6300-6301	DT	denotes	a
T14450	6302-6307	NN	denotes	mouse
T14451	6308-6318	JJ	denotes	homozygous
T14452	6319-6322	IN	denotes	for
T14453	6323-6326	DT	denotes	the
T14455	6327-6329	CD	denotes	18
T14457	6329-6330	HYPH	denotes	-
T14456	6330-6332	NN	denotes	bp
T14458	6333-6338	NN	denotes	Itpr1
T14454	6339-6347	NN	denotes	deletion
T14459	6348-6349	-LRB-	denotes	(
T14460	6349-6350	NN	denotes	C
T14461	6351-6354	CC	denotes	and
T14462	6355-6356	NN	denotes	F
T14463	6356-6357	-RRB-	denotes	)
T14464	6357-6358	.	denotes	.
T14465	6358-6555	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	6359-6360	-LRB-	denotes	(
T14467	6360-6361	LS	denotes	A
T14469	6361-6362	SYM	denotes	–
T14470	6362-6363	LS	denotes	C
T14471	6363-6364	-RRB-	denotes	)
T14468	6365-6385	NN	denotes	Immunohistochemistry
T14472	6386-6391	VBG	denotes	using
T14473	6392-6402	JJ	denotes	polyclonal
T14475	6403-6408	NN	denotes	Itpr1
T14476	6409-6420	JJ	denotes	anti-rabbit
T14474	6421-6429	NN	denotes	antibody
T14477	6430-6431	-LRB-	denotes	(
T14479	6431-6432	CD	denotes	1
T14480	6432-6433	SYM	denotes	:
T14481	6433-6438	CD	denotes	2,000
T14482	6438-6439	:	denotes	;
T14483	6440-6445	NNP	denotes	Alexa
T14478	6446-6451	NNP	denotes	Fluor
T14484	6452-6455	CD	denotes	555
T14485	6455-6456	-RRB-	denotes	)
T14486	6456-6457	:	denotes	;
T14487	6458-6459	-LRB-	denotes	(
T14488	6459-6460	LS	denotes	D
T14490	6460-6461	SYM	denotes	–
T14491	6461-6462	LS	denotes	F
T14492	6462-6463	-RRB-	denotes	)
T14489	6464-6484	NN	denotes	immunohistochemistry
T14493	6485-6490	VBG	denotes	using
T14494	6491-6501	JJ	denotes	monoclonal
T14496	6502-6507	NN	denotes	Calb1
T14497	6508-6518	JJ	denotes	anti-mouse
T14495	6519-6527	NN	denotes	antibody
T14498	6528-6529	-LRB-	denotes	(
T14500	6529-6530	CD	denotes	1
T14501	6530-6531	SYM	denotes	:
T14502	6531-6536	CD	denotes	6,000
T14503	6536-6537	:	denotes	;
T14504	6538-6543	NNP	denotes	Alexa
T14499	6544-6549	NNP	denotes	Fluor
T14505	6550-6553	CD	denotes	488
T14506	6553-6554	-RRB-	denotes	)
T14507	6554-6555	.	denotes	.
T14508	6555-6581	sentence	denotes	Scale bars denote 100 μm.
T14509	6556-6561	NN	denotes	Scale
T14510	6562-6566	NNS	denotes	bars
T14511	6567-6573	VBP	denotes	denote
T14512	6574-6577	CD	denotes	100
T14513	6578-6580	NN	denotes	μm
T14514	6580-6581	.	denotes	.
T14515	6581-6655	sentence	denotes	As previously described, Iptr1 is highly expressed in the Purkinje cells.
T14516	6582-6584	IN	denotes	As
T14518	6585-6595	RB	denotes	previously
T14517	6596-6605	VBN	denotes	described
T14520	6605-6607	,	denotes	,
T14521	6607-6612	NN	denotes	Iptr1
T14522	6613-6615	VBZ	denotes	is
T14523	6616-6622	RB	denotes	highly
T14519	6623-6632	VBN	denotes	expressed
T14524	6633-6635	IN	denotes	in
T14525	6636-6639	DT	denotes	the
T14527	6640-6648	NNP	denotes	Purkinje
T14526	6649-6654	NNS	denotes	cells
T14528	6654-6655	.	denotes	.
T14529	6655-6768	sentence	denotes	Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice.
T14530	6656-6663	RB	denotes	Notably
T14532	6663-6665	,	denotes	,
T14533	6665-6670	EX	denotes	there
T14531	6671-6678	VBZ	denotes	appears
T14534	6679-6681	TO	denotes	to
T14535	6682-6684	VB	denotes	be
T14536	6685-6694	VBN	denotes	decreased
T14537	6695-6711	NN	denotes	immunoreactivity
T14538	6712-6714	IN	denotes	to
T14539	6715-6720	NN	denotes	Itpr1
T14540	6721-6723	IN	denotes	in
T14541	6724-6727	DT	denotes	the
T14543	6728-6740	JJ	denotes	heterozygous
T14544	6741-6744	CC	denotes	and
T14545	6745-6755	JJ	denotes	homozygous
T14546	6756-6762	NN	denotes	mutant
T14542	6763-6767	NNS	denotes	mice
T14547	6767-6768	.	denotes	.
T14548	6768-7019	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	6769-6770	-LRB-	denotes	(
T14550	6770-6771	LS	denotes	G
T14552	6771-6772	-RRB-	denotes	)
T14553	6773-6780	NNP	denotes	Western
T14554	6781-6785	NN	denotes	blot
T14555	6786-6795	VBN	denotes	performed
T14556	6796-6798	TO	denotes	to
T14557	6799-6806	VB	denotes	examine
T14558	6807-6812	NN	denotes	Itpr1
T14559	6813-6819	NNS	denotes	levels
T14560	6820-6822	IN	denotes	in
T14561	6823-6828	JJ	denotes	whole
T14562	6829-6834	NN	denotes	brain
T14563	6835-6839	IN	denotes	from
T14564	6840-6844	JJ	denotes	wild
T14566	6844-6845	HYPH	denotes	-
T14565	6845-6849	NN	denotes	type
T14568	6849-6851	,	denotes	,
T14569	6851-6858	NN	denotes	Itpr1wt
T14571	6858-6859	HYPH	denotes	/
T14570	6859-6862	NN	denotes	Δ18
T14572	6862-6864	,	denotes	,
T14573	6864-6867	CC	denotes	and
T14574	6868-6876	NN	denotes	Itpr1Δ18
T14576	6876-6877	HYPH	denotes	/
T14575	6877-6880	NN	denotes	Δ18
T14567	6881-6885	NNS	denotes	mice
T14577	6885-6886	:	denotes	;
T14578	6887-6891	DT	denotes	this
T14579	6892-6899	RB	denotes	clearly
T14551	6900-6905	VBZ	denotes	shows
T14580	6906-6907	DT	denotes	a
T14581	6908-6917	NN	denotes	reduction
T14582	6918-6920	IN	denotes	of
T14583	6921-6926	NN	denotes	Itpr1
T14584	6927-6929	IN	denotes	in
T14585	6930-6935	NN	denotes	brain
T14586	6936-6942	NN	denotes	tissue
T14587	6943-6947	IN	denotes	from
T14588	6948-6955	NN	denotes	Itpr1wt
T14590	6955-6956	HYPH	denotes	/
T14589	6956-6959	NN	denotes	Δ18
T14591	6960-6964	NNS	denotes	mice
T14592	6965-6968	CC	denotes	and
T14593	6969-6970	DT	denotes	a
T14595	6971-6978	JJR	denotes	greater
T14594	6979-6988	NN	denotes	reduction
T14596	6989-6991	IN	denotes	of
T14597	6992-6997	NN	denotes	Itpr1
T14598	6998-7000	IN	denotes	in
T14599	7001-7009	NN	denotes	Itpr1Δ18
T14601	7009-7010	HYPH	denotes	/
T14600	7010-7013	NN	denotes	Δ18
T14602	7014-7018	NNS	denotes	mice
T14603	7018-7019	.	denotes	.
T6925	7020-7025	VBN	denotes	Given
T6927	7026-7029	PRP$	denotes	our
T6928	7030-7038	NN	denotes	interest
T6929	7039-7041	IN	denotes	in
T6930	7042-7047	JJ	denotes	human
T6932	7048-7060	JJ	denotes	neurological
T6931	7061-7068	NN	denotes	disease
T6933	7069-7071	PRP	denotes	we
T6926	7072-7078	VBD	denotes	sought
T6934	7079-7081	TO	denotes	to
T6935	7082-7090	VB	denotes	identify
T6936	7091-7094	DT	denotes	any
T6938	7095-7102	JJ	denotes	cognate
T6939	7103-7108	JJ	denotes	human
T6937	7109-7118	NNS	denotes	disorders
T6940	7119-7124	WRB	denotes	where
T6942	7125-7132	NN	denotes	linkage
T6943	7133-7136	VBD	denotes	had
T6944	7137-7141	VBN	denotes	been
T6941	7142-7153	VBN	denotes	established
T6945	7154-7156	IN	denotes	to
T6946	7157-7160	DT	denotes	the
T6948	7161-7169	JJ	denotes	syntenic
T6947	7170-7176	NN	denotes	region
T6949	7177-7179	IN	denotes	of
T6950	7180-7183	DT	denotes	the
T6952	7184-7189	JJ	denotes	human
T6951	7190-7196	NN	denotes	genome
T6953	7196-7198	,	denotes	,
T6954	7198-7201	CC	denotes	but
T6955	7202-7207	WRB	denotes	where
T6957	7208-7210	DT	denotes	no
T6959	7211-7217	JJ	denotes	causal
T6958	7218-7226	NN	denotes	mutation
T6960	7227-7230	VBD	denotes	had
T6961	7231-7235	VBN	denotes	been
T6956	7236-7246	VBN	denotes	identified
T6962	7246-7247	.	denotes	.
T6963	7247-7336	sentence	denotes	SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5].
T6964	7248-7253	NN	denotes	SCA15
T6966	7253-7255	,	denotes	,
T6967	7255-7257	DT	denotes	an
T6969	7258-7263	JJ	denotes	adult
T6971	7263-7264	HYPH	denotes	-
T6970	7264-7269	NN	denotes	onset
T6972	7270-7279	JJ	denotes	autosomal
T6973	7280-7288	JJ	denotes	dominant
T6974	7289-7300	JJ	denotes	progressive
T6968	7301-7307	NN	denotes	ataxia
T6975	7308-7310	VBZ	denotes	is
T6965	7311-7317	VBN	denotes	linked
T6976	7318-7320	IN	denotes	to
T6977	7321-7325	DT	denotes	this
T6978	7326-7331	NN	denotes	locus
T6979	7332-7333	-LRB-	denotes	[
T6980	7333-7334	CD	denotes	5
T6981	7334-7335	-RRB-	denotes	]
T6982	7335-7336	.	denotes	.
T6983	7336-7617	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	7337-7345	IN	denotes	Although
T6986	7346-7354	NN	denotes	missense
T6987	7355-7363	NN	denotes	mutation
T6988	7364-7366	IN	denotes	of
T6989	7367-7372	NN	denotes	ITPR1
T6990	7373-7376	VBD	denotes	had
T6991	7377-7387	RB	denotes	previously
T6992	7388-7392	VBN	denotes	been
T6985	7393-7398	VBN	denotes	ruled
T6994	7399-7402	RP	denotes	out
T6995	7403-7404	-LRB-	denotes	[
T6996	7404-7405	CD	denotes	2
T6997	7405-7406	-RRB-	denotes	]
T6998	7407-7410	CC	denotes	and
T6999	7411-7414	DT	denotes	the
T7000	7415-7419	NN	denotes	mode
T7002	7420-7422	IN	denotes	of
T7003	7423-7434	NN	denotes	inheritance
T7001	7435-7438	VBD	denotes	was
T7004	7439-7451	JJ	denotes	inconsistent
T7005	7452-7456	IN	denotes	with
T7006	7457-7461	DT	denotes	that
T7007	7462-7466	VBN	denotes	seen
T7008	7467-7469	IN	denotes	in
T7009	7470-7473	DT	denotes	the
T7011	7474-7482	NN	denotes	Itpr1Δ18
T7012	7483-7486	CC	denotes	and
T7013	7487-7495	NN	denotes	Itpr1opt
T7010	7496-7500	NNS	denotes	mice
T7014	7500-7502	,	denotes	,
T7015	7502-7505	DT	denotes	the
T7017	7506-7516	JJ	denotes	phenotypic
T7016	7517-7525	NN	denotes	presence
T7018	7526-7528	IN	denotes	of
T7019	7529-7535	NN	denotes	ataxia
T7020	7536-7538	IN	denotes	in
T7021	7539-7542	DT	denotes	the
T7022	7543-7547	NNS	denotes	mice
T6993	7548-7551	VBD	denotes	led
T7023	7552-7554	PRP	denotes	us
T7024	7555-7557	TO	denotes	to
T7025	7558-7567	VB	denotes	reexamine
T7026	7568-7572	DT	denotes	this
T7028	7573-7582	NN	denotes	candidate
T7027	7583-7587	NN	denotes	gene
T7029	7588-7590	IN	denotes	as
T7030	7591-7592	DT	denotes	a
T7032	7593-7601	JJ	denotes	possible
T7031	7602-7607	NN	denotes	cause
T7033	7608-7610	IN	denotes	of
T7034	7611-7616	NN	denotes	SCA15
T7035	7616-7617	.	denotes	.
T7036	7617-7837	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	7618-7620	PRP	denotes	We
T7038	7621-7629	VBD	denotes	obtained
T7039	7630-7637	JJ	denotes	genomic
T7040	7638-7641	NN	denotes	DNA
T7041	7642-7646	IN	denotes	from
T7042	7647-7652	CD	denotes	three
T7044	7653-7661	VBN	denotes	affected
T7045	7662-7668	NN	denotes	family
T7043	7669-7676	NNS	denotes	members
T7046	7677-7680	CC	denotes	and
T7047	7681-7684	CD	denotes	one
T7049	7685-7691	NN	denotes	family
T7048	7692-7698	NN	denotes	member
T7050	7699-7703	IN	denotes	with
T7051	7704-7711	JJ	denotes	unknown
T7053	7712-7719	NN	denotes	disease
T7052	7720-7726	NN	denotes	status
T7054	7727-7731	IN	denotes	from
T7055	7732-7735	DT	denotes	the
T7056	7736-7743	NN	denotes	kindred
T7057	7744-7754	RB	denotes	originally
T7058	7755-7759	VBN	denotes	used
T7059	7760-7762	TO	denotes	to
T7060	7763-7769	VB	denotes	define
T7061	7770-7773	CC	denotes	and
T7062	7774-7777	VB	denotes	map
T7063	7778-7783	NN	denotes	SCA15
T7064	7784-7785	-LRB-	denotes	(
T7066	7785-7791	NN	denotes	family
T7065	7792-7796	NN	denotes	AUS1
T7067	7796-7798	,	denotes	,
T7068	7798-7800	IN	denotes	of
T7069	7801-7811	JJ	denotes	Australian
T7071	7812-7817	AFX	denotes	Anglo
T7073	7817-7818	HYPH	denotes	-
T7072	7818-7824	JJ	denotes	Celtic
T7070	7825-7831	NN	denotes	origin
T7074	7831-7832	-RRB-	denotes	)
T7075	7833-7834	-LRB-	denotes	[
T7076	7834-7835	CD	denotes	2
T7077	7835-7836	-RRB-	denotes	]
T7078	7836-7837	.	denotes	.
T7079	7837-8013	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	7838-7840	PRP	denotes	We
T7081	7841-7850	VBD	denotes	performed
T7082	7851-7854	CD	denotes	two
T7083	7855-7866	NNS	denotes	experiments
T7084	7867-7879	RB	denotes	concurrently
T7085	7880-7882	IN	denotes	in
T7086	7883-7888	CD	denotes	three
T7088	7889-7897	VBN	denotes	affected
T7087	7898-7905	NNS	denotes	members
T7089	7906-7908	IN	denotes	of
T7090	7909-7913	DT	denotes	this
T7091	7914-7920	NN	denotes	family
T7092	7920-7922	:	denotes	:
T7093	7922-7930	NN	denotes	sequence
T7094	7931-7939	NN	denotes	analysis
T7095	7940-7942	IN	denotes	of
T7096	7943-7946	DT	denotes	the
T7098	7947-7953	VBG	denotes	coding
T7097	7954-7959	NNS	denotes	exons
T7099	7960-7962	IN	denotes	of
T7100	7963-7968	NN	denotes	ITPR1
T7101	7969-7972	CC	denotes	and
T7102	7973-7977	JJ	denotes	high
T7104	7977-7978	HYPH	denotes	-
T7103	7978-7985	NN	denotes	density
T7106	7986-7992	NN	denotes	genome
T7107	7992-7993	HYPH	denotes	-
T7108	7993-7997	JJ	denotes	wide
T7109	7998-8001	NN	denotes	SNP
T7105	8002-8012	NN	denotes	genotyping
T7110	8012-8013	.	denotes	.
T7111	8013-8194	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	8014-8022	NN	denotes	Sequence
T7113	8023-8031	NN	denotes	analysis
T7114	8032-8038	VBD	denotes	failed
T7115	8039-8041	TO	denotes	to
T7116	8042-8046	VB	denotes	show
T7117	8047-8050	DT	denotes	any
T7119	8051-8057	NN	denotes	coding
T7118	8058-8069	NNS	denotes	alterations
T7120	8070-8081	VBG	denotes	segregating
T7121	8082-8086	IN	denotes	with
T7122	8087-8094	NN	denotes	disease
T7123	8095-8097	CC	denotes	or
T7124	8098-8101	DT	denotes	any
T7125	8102-8113	NNS	denotes	alterations
T7126	8114-8118	WDT	denotes	that
T7127	8119-8123	VBD	denotes	were
T7128	8124-8136	JJ	denotes	inconsistent
T7129	8137-8141	IN	denotes	with
T7130	8142-8151	JJ	denotes	Mendelian
T7131	8152-8160	NNS	denotes	patterns
T7132	8161-8163	IN	denotes	of
T7133	8164-8175	NN	denotes	inheritance
T7134	8176-8182	IN	denotes	within
T7135	8183-8186	DT	denotes	the
T7136	8187-8193	NN	denotes	family
T7137	8193-8194	.	denotes	.
T7138	8194-8482	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	8195-8202	RB	denotes	However
T7141	8202-8204	,	denotes	,
T7142	8204-8217	NN	denotes	visualization
T7143	8218-8220	IN	denotes	of
T7144	8221-8224	NN	denotes	log
T7145	8225-8226	NN	denotes	R
T7146	8227-8232	NN	denotes	ratio
T7147	8233-8236	CC	denotes	and
T7148	8237-8238	NN	denotes	B
T7149	8239-8245	NN	denotes	allele
T7151	8246-8255	NN	denotes	frequency
T7150	8256-8263	NNS	denotes	metrics
T7152	8264-8268	IN	denotes	from
T7153	8269-8272	DT	denotes	the
T7155	8273-8279	NN	denotes	genome
T7157	8279-8280	HYPH	denotes	-
T7156	8280-8284	JJ	denotes	wide
T7158	8285-8288	NN	denotes	SNP
T7159	8289-8299	NN	denotes	genotyping
T7154	8300-8311	NNS	denotes	experiments
T7160	8312-8319	RB	denotes	clearly
T7140	8320-8326	VBD	denotes	showed
T7161	8327-8331	NNS	denotes	data
T7162	8332-8342	JJ	denotes	consistent
T7163	8343-8347	IN	denotes	with
T7164	8348-8349	DT	denotes	a
T7166	8350-8362	JJ	denotes	heterozygous
T7167	8363-8370	JJ	denotes	genomic
T7165	8371-8379	NN	denotes	deletion
T7168	8380-8386	IN	denotes	across
T7169	8387-8390	DT	denotes	the
T7171	8391-8396	JJ	denotes	first
T7172	8397-8400	CD	denotes	one
T7173	8400-8401	HYPH	denotes	-
T7170	8401-8406	NN	denotes	third
T7174	8407-8409	IN	denotes	of
T7175	8410-8415	NN	denotes	ITPR1
T7176	8416-8419	CC	denotes	and
T7177	8420-8426	IN	denotes	across
T7178	8427-8430	DT	denotes	the
T7180	8431-8436	JJ	denotes	first
T7179	8437-8441	NN	denotes	half
T7181	8442-8444	IN	denotes	of
T7182	8445-8446	DT	denotes	a
T7184	8447-8458	JJ	denotes	neighboring
T7183	8459-8463	NN	denotes	gene
T7185	8463-8465	,	denotes	,
T7186	8465-8470	NN	denotes	SUMF1
T7187	8471-8472	-LRB-	denotes	(
T7188	8472-8478	NN	denotes	Figure
T7189	8479-8480	CD	denotes	2
T7190	8480-8481	-RRB-	denotes	)
T7191	8481-8482	.	denotes	.
T7192	8482-8630	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	8483-8487	DT	denotes	This
T7194	8488-8496	NN	denotes	deletion
T7195	8497-8500	VBD	denotes	was
T7196	8501-8509	JJ	denotes	apparent
T7197	8510-8512	IN	denotes	in
T7198	8513-8516	DT	denotes	all
T7200	8517-8522	CD	denotes	three
T7201	8523-8531	VBN	denotes	affected
T7202	8532-8538	NN	denotes	family
T7199	8539-8546	NNS	denotes	members
T7203	8547-8554	VBN	denotes	studied
T7204	8555-8558	CC	denotes	and
T7205	8559-8565	JJ	denotes	absent
T7206	8566-8570	IN	denotes	from
T7207	8571-8574	DT	denotes	the
T7209	8575-8581	NN	denotes	family
T7208	8582-8588	NN	denotes	member
T7210	8589-8593	IN	denotes	with
T7211	8594-8601	JJ	denotes	unknown
T7213	8602-8611	NN	denotes	affection
T7212	8612-8618	NN	denotes	status
T7214	8619-8620	-LRB-	denotes	(
T7215	8620-8626	NN	denotes	Figure
T7216	8627-8628	CD	denotes	3
T7217	8628-8629	-RRB-	denotes	)
T7218	8629-8630	.	denotes	.
T7219	8630-8989	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	8631-8634	DT	denotes	The
T7222	8635-8638	NN	denotes	SNP
T7221	8639-8643	NNS	denotes	data
T7223	8644-8650	VBD	denotes	showed
T7225	8651-8652	DT	denotes	a
T7226	8653-8661	NN	denotes	deletion
T7227	8662-8664	IN	denotes	of
T7228	8665-8672	IN	denotes	between
T7229	8673-8676	CD	denotes	188
T7230	8677-8679	NN	denotes	kb
T7231	8680-8683	CC	denotes	and
T7232	8684-8687	CD	denotes	210
T7233	8688-8690	NN	denotes	kb
T7234	8691-8693	IN	denotes	in
T7235	8694-8698	NN	denotes	size
T7236	8698-8699	:	denotes	;
T7237	8700-8711	NN	denotes	examination
T7238	8712-8714	IN	denotes	of
T7239	8715-8719	NNS	denotes	SNPs
T7240	8720-8722	IN	denotes	at
T7241	8723-8726	DT	denotes	the
T7243	8727-8735	VBG	denotes	flanking
T7244	8736-8743	JJ	denotes	unknown
T7242	8744-8751	NNS	denotes	regions
T7245	8752-8754	IN	denotes	of
T7246	8755-8759	DT	denotes	this
T7247	8760-8768	NN	denotes	deletion
T7224	8769-8776	VBD	denotes	allowed
T7248	8777-8779	PRP	denotes	us
T7250	8780-8782	TO	denotes	to
T7249	8783-8790	VB	denotes	delimit
T7251	8791-8794	DT	denotes	the
T7252	8795-8802	NNS	denotes	borders
T7253	8803-8805	IN	denotes	of
T7254	8806-8809	DT	denotes	the
T7255	8810-8818	NN	denotes	deletion
T7256	8819-8821	IN	denotes	to
T7257	8822-8825	CD	denotes	7.5
T7258	8826-8828	NN	denotes	kb
T7259	8829-8831	IN	denotes	on
T7260	8832-8835	DT	denotes	the
T7262	8836-8845	JJ	denotes	telomeric
T7261	8846-8850	NN	denotes	side
T7263	8851-8853	IN	denotes	of
T7264	8854-8857	DT	denotes	the
T7265	8858-8866	NN	denotes	deletion
T7266	8867-8868	-LRB-	denotes	(
T7267	8868-8875	IN	denotes	between
T7268	8876-8886	NN	denotes	rs12634249
T7269	8887-8890	CC	denotes	and
T7270	8891-8899	NN	denotes	rs793396
T7271	8899-8900	-RRB-	denotes	)
T7272	8901-8904	CC	denotes	and
T7273	8905-8906	SYM	denotes	~
T7274	8906-8910	CD	denotes	14.4
T7275	8911-8913	NN	denotes	kb
T7276	8914-8916	IN	denotes	on
T7277	8917-8920	DT	denotes	the
T7279	8921-8932	JJ	denotes	centromeric
T7278	8933-8937	NN	denotes	side
T7280	8938-8940	IN	denotes	of
T7281	8941-8944	DT	denotes	the
T7282	8945-8953	NN	denotes	deletion
T7283	8954-8955	-LRB-	denotes	(
T7284	8955-8962	IN	denotes	between
T7285	8963-8972	NN	denotes	rs4073665
T7286	8973-8976	CC	denotes	and
T7287	8977-8987	NN	denotes	rs17709863
T7288	8987-8988	-RRB-	denotes	)
T7289	8988-8989	.	denotes	.
T7290	8989-9273	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	8990-8992	IN	denotes	In
T7293	8993-8995	DT	denotes	an
T7294	8996-9003	NN	denotes	attempt
T7295	9004-9006	TO	denotes	to
T7296	9007-9013	VB	denotes	define
T7297	9014-9021	IN	denotes	whether
T7299	9022-9026	DT	denotes	this
T7300	9027-9036	NN	denotes	variation
T7298	9037-9040	VBD	denotes	was
T7301	9041-9042	DT	denotes	a
T7303	9043-9049	JJ	denotes	benign
T7302	9050-9062	NN	denotes	polymorphism
T7304	9063-9065	PRP	denotes	we
T7292	9066-9074	VBD	denotes	analyzed
T7305	9075-9081	NN	denotes	genome
T7307	9081-9082	HYPH	denotes	-
T7306	9082-9086	JJ	denotes	wide
T7309	9087-9090	NN	denotes	SNP
T7308	9091-9095	NNS	denotes	data
T7310	9096-9098	IN	denotes	at
T7311	9099-9103	DT	denotes	this
T7312	9104-9109	NN	denotes	locus
T7313	9109-9111	,	denotes	,
T7314	9111-9119	VBN	denotes	produced
T7315	9120-9125	VBG	denotes	using
T7316	9126-9129	DT	denotes	the
T7318	9130-9134	JJ	denotes	same
T7319	9135-9145	NN	denotes	genotyping
T7317	9146-9150	NN	denotes	chip
T7320	9150-9152	,	denotes	,
T7321	9152-9156	IN	denotes	from
T7322	9157-9160	CD	denotes	577
T7323	9161-9172	NNS	denotes	individuals
T7324	9173-9175	IN	denotes	of
T7325	9176-9184	JJ	denotes	European
T7326	9185-9192	NN	denotes	descent
T7327	9193-9196	WP	denotes	who
T7328	9197-9201	VBD	denotes	were
T7329	9202-9208	CC	denotes	either
T7330	9209-9217	NNS	denotes	controls
T7331	9218-9220	CC	denotes	or
T7332	9221-9232	NNS	denotes	individuals
T7333	9233-9237	IN	denotes	with
T7334	9238-9240	DT	denotes	an
T7336	9241-9250	JJ	denotes	unrelated
T7337	9251-9263	JJ	denotes	neurological
T7335	9264-9272	NN	denotes	disorder
T7338	9272-9273	.	denotes	.
T7339	9273-9541	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	9274-9276	PRP	denotes	We
T7341	9277-9283	VBD	denotes	failed
T7343	9284-9286	TO	denotes	to
T7344	9287-9291	VB	denotes	find
T7345	9292-9295	DT	denotes	any
T7346	9296-9305	NNS	denotes	deletions
T7347	9306-9315	VBG	denotes	affecting
T7348	9316-9319	DT	denotes	the
T7350	9320-9326	NN	denotes	coding
T7349	9327-9335	NN	denotes	sequence
T7351	9336-9338	IN	denotes	of
T7352	9339-9345	DT	denotes	either
T7353	9346-9350	NN	denotes	gene
T7354	9350-9352	,	denotes	,
T7355	9352-9357	NN	denotes	ITPR1
T7356	9358-9360	CC	denotes	or
T7357	9361-9366	NN	denotes	SUMF1
T7358	9366-9367	:	denotes	;
T7359	9368-9370	PRP	denotes	we
T7360	9371-9374	VBD	denotes	did
T7361	9374-9376	,	denotes	,
T7362	9376-9383	RB	denotes	however
T7363	9383-9385	,	denotes	,
T7342	9385-9393	VB	denotes	identify
T7364	9394-9395	DT	denotes	a
T7366	9396-9402	JJ	denotes	single
T7365	9403-9413	NN	denotes	individual
T7367	9414-9418	IN	denotes	with
T7368	9419-9420	DT	denotes	a
T7370	9421-9429	JJ	denotes	possible
T7371	9430-9442	JJ	denotes	heterozygous
T7369	9443-9451	NN	denotes	deletion
T7372	9452-9465	RB	denotes	approximately
T7373	9466-9467	CD	denotes	6
T7374	9468-9470	NN	denotes	kb
T7375	9471-9473	IN	denotes	in
T7376	9474-9478	NN	denotes	size
T7377	9479-9485	IN	denotes	within
T7378	9486-9492	NN	denotes	intron
T7379	9493-9495	CD	denotes	40
T7380	9495-9496	SYM	denotes	–
T7381	9496-9498	CD	denotes	41
T7382	9499-9501	IN	denotes	of
T7383	9502-9507	NN	denotes	ITPR1
T7384	9507-9509	,	denotes	,
T7385	9509-9511	RB	denotes	at
T7387	9512-9517	RBS	denotes	least
T7386	9518-9519	CD	denotes	5
T7388	9520-9522	NN	denotes	kb
T7389	9523-9527	RB	denotes	away
T7390	9528-9532	IN	denotes	from
T7391	9533-9537	NN	denotes	exon
T7392	9538-9540	CD	denotes	40
T7393	9540-9541	.	denotes	.
T7394	9541-9641	sentence	denotes	Given the location of this alteration it is unlikely to effect the expression or splicing of ITPR1.
T7395	9542-9547	VBN	denotes	Given
T7397	9548-9551	DT	denotes	the
T7398	9552-9560	NN	denotes	location
T7399	9561-9563	IN	denotes	of
T7400	9564-9568	DT	denotes	this
T7401	9569-9579	NN	denotes	alteration
T7402	9580-9582	PRP	denotes	it
T7396	9583-9585	VBZ	denotes	is
T7403	9586-9594	JJ	denotes	unlikely
T7404	9595-9597	TO	denotes	to
T7405	9598-9604	VB	denotes	effect
T7406	9605-9608	DT	denotes	the
T7407	9609-9619	NN	denotes	expression
T7408	9620-9622	CC	denotes	or
T7409	9623-9631	NN	denotes	splicing
T7410	9632-9634	IN	denotes	of
T7411	9635-9640	NN	denotes	ITPR1
T7412	9640-9641	.	denotes	.
T7413	9641-12242	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.
T15069	9652-9659	NNS	denotes	Metrics
T15070	9660-9667	VBN	denotes	Derived
T15071	9668-9672	IN	denotes	from
T15072	9673-9681	NN	denotes	Analysis
T15073	9682-9684	IN	denotes	of
T15074	9685-9688	NN	denotes	DNA
T15075	9689-9693	IN	denotes	from
T15076	9694-9702	VBN	denotes	Affected
T15078	9703-9709	NN	denotes	Family
T15077	9710-9716	NN	denotes	Member
T15079	9717-9718	CD	denotes	7
T15080	9719-9724	VBG	denotes	Using
T15081	9725-9733	NNP	denotes	Illumina
T15083	9734-9742	NNP	denotes	Infinium
T15082	9743-9754	NNP	denotes	HumanHap550
T15085	9755-9765	NN	denotes	Genotyping
T15084	9766-9771	NNS	denotes	Chips
T15086	9771-9903	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	9772-9775	DT	denotes	The
T15089	9776-9781	JJ	denotes	upper
T15090	9782-9785	CC	denotes	and
T15091	9786-9791	JJ	denotes	lower
T15088	9792-9797	NNS	denotes	plots
T15092	9798-9801	VBP	denotes	are
T15093	9802-9805	NN	denotes	log
T15094	9806-9807	NN	denotes	R
T15095	9808-9813	NN	denotes	ratio
T15096	9814-9817	CC	denotes	and
T15097	9818-9819	NN	denotes	B
T15098	9820-9826	NN	denotes	allele
T15099	9827-9836	NN	denotes	frequency
T15100	9836-9838	,	denotes	,
T15101	9838-9850	RB	denotes	respectively
T15102	9850-9852	,	denotes	,
T15103	9852-9854	IN	denotes	at
T15104	9855-9857	DT	denotes	an
T15106	9858-9859	SYM	denotes	~
T15107	9859-9862	CD	denotes	800
T15109	9862-9863	HYPH	denotes	-
T15108	9863-9865	NN	denotes	kb
T15105	9866-9873	NN	denotes	segment
T15110	9874-9876	IN	denotes	on
T15111	9877-9880	DT	denotes	the
T15113	9881-9882	NN	denotes	p
T15112	9883-9886	NN	denotes	arm
T15114	9887-9889	IN	denotes	of
T15115	9890-9900	NN	denotes	Chromosome
T15116	9901-9902	CD	denotes	3
T15117	9902-9903	.	denotes	.
T15118	9903-10067	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	9904-9907	NN	denotes	Log
T15120	9908-9909	NN	denotes	R
T15121	9910-9915	NN	denotes	ratio
T15122	9916-9918	VBZ	denotes	is
T15123	9919-9922	DT	denotes	the
T15124	9923-9928	NN	denotes	ratio
T15125	9929-9931	IN	denotes	of
T15126	9932-9942	VBN	denotes	normalized
T15128	9942-9944	,	denotes	,
T15129	9944-9952	VBN	denotes	observed
T15127	9953-9954	NN	denotes	R
T15130	9955-9957	IN	denotes	to
T15131	9958-9966	VBN	denotes	expected
T15132	9967-9968	NN	denotes	R
T15133	9969-9972	IN	denotes	for
T15134	9973-9977	DT	denotes	each
T15135	9978-9981	NN	denotes	SNP
T15136	9982-9983	-LRB-	denotes	(
T15138	9983-9987	DT	denotes	each
T15139	9988-9991	NN	denotes	SNP
T15137	9992-9994	VBZ	denotes	is
T15140	9995-9996	DT	denotes	a
T15142	9997-10001	JJ	denotes	blue
T15141	10002-10005	NN	denotes	dot
T15143	10005-10006	-RRB-	denotes	)
T15144	10007-10010	CC	denotes	and
T15145	10011-10015	RB	denotes	thus
T15146	10016-10022	VBZ	denotes	serves
T15147	10023-10025	IN	denotes	as
T15148	10026-10027	DT	denotes	a
T15149	10028-10037	NN	denotes	surrogate
T15150	10038-10040	IN	denotes	of
T15151	10041-10045	NN	denotes	copy
T15152	10046-10052	NN	denotes	number
T15153	10053-10055	IN	denotes	at
T15154	10056-10060	DT	denotes	each
T15155	10061-10066	NN	denotes	locus
T15156	10066-10067	.	denotes	.
T15157	10067-10205	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	10068-10069	NN	denotes	B
T15159	10070-10076	NN	denotes	allele
T15160	10077-10086	NN	denotes	frequency
T15161	10087-10089	VBZ	denotes	is
T15162	10090-10091	DT	denotes	a
T15163	10092-10099	NN	denotes	measure
T15164	10100-10102	IN	denotes	of
T15165	10103-10106	DT	denotes	the
T15166	10107-10113	NN	denotes	number
T15167	10114-10116	IN	denotes	of
T15168	10117-10122	NNS	denotes	times
T15169	10123-10126	DT	denotes	the
T15171	10127-10128	NN	denotes	A
T15172	10129-10131	CC	denotes	or
T15173	10132-10133	NN	denotes	B
T15170	10134-10141	NNS	denotes	alleles
T15175	10142-10145	VBP	denotes	are
T15174	10146-10154	VBN	denotes	detected
T15176	10155-10157	IN	denotes	at
T15177	10158-10162	DT	denotes	each
T15178	10163-10168	NN	denotes	locus
T15179	10169-10170	-LRB-	denotes	(
T15181	10170-10174	DT	denotes	each
T15182	10175-10178	NN	denotes	SNP
T15183	10179-10181	VBZ	denotes	is
T15180	10182-10189	VBN	denotes	denoted
T15184	10190-10192	IN	denotes	by
T15185	10193-10194	DT	denotes	a
T15187	10195-10199	JJ	denotes	blue
T15186	10200-10203	NN	denotes	dot
T15188	10203-10204	-RRB-	denotes	)
T15189	10204-10205	.	denotes	.
T15190	10205-10423	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	10206-10210	RB	denotes	Thus
T15193	10210-10212	,	denotes	,
T15194	10212-10216	NNS	denotes	SNPs
T15196	10217-10221	IN	denotes	with
T15197	10222-10223	DT	denotes	a
T15199	10224-10225	NN	denotes	B
T15200	10226-10232	NN	denotes	allele
T15198	10233-10242	NN	denotes	frequency
T15201	10243-10245	IN	denotes	of
T15202	10246-10249	CD	denotes	one
T15195	10250-10253	VBP	denotes	are
T15203	10254-10262	JJ	denotes	apparent
T15205	10263-10264	NN	denotes	B
T15207	10264-10265	HYPH	denotes	/
T15206	10265-10266	NN	denotes	B
T15204	10267-10278	NNS	denotes	homozygotes
T15208	10278-10280	,	denotes	,
T15209	10280-10284	NNS	denotes	SNPs
T15210	10285-10289	IN	denotes	with
T15211	10290-10291	DT	denotes	a
T15213	10292-10293	NN	denotes	B
T15214	10294-10300	NN	denotes	allele
T15212	10301-10310	NN	denotes	frequency
T15215	10311-10313	IN	denotes	of
T15216	10314-10317	CD	denotes	0.5
T15192	10318-10321	VBP	denotes	are
T15217	10322-10330	JJ	denotes	apparent
T15219	10331-10332	NN	denotes	A
T15221	10332-10333	HYPH	denotes	/
T15220	10333-10334	NN	denotes	B
T15218	10335-10348	NNS	denotes	heterozygotes
T15222	10348-10350	,	denotes	,
T15223	10350-10353	CC	denotes	and
T15224	10354-10359	DT	denotes	those
T15226	10360-10364	IN	denotes	with
T15227	10365-10366	DT	denotes	a
T15229	10367-10368	NN	denotes	B
T15230	10369-10375	NN	denotes	allele
T15228	10376-10385	NN	denotes	frequency
T15231	10386-10388	IN	denotes	of
T15232	10389-10393	CD	denotes	zero
T15225	10394-10397	VBP	denotes	are
T15233	10398-10406	JJ	denotes	apparent
T15235	10407-10408	NN	denotes	A
T15237	10408-10409	HYPH	denotes	/
T15236	10409-10410	NN	denotes	A
T15234	10411-10422	NNS	denotes	homozygotes
T15238	10422-10423	.	denotes	.
T15239	10423-10559	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	10424-10431	RB	denotes	Clearly
T15242	10431-10433	,	denotes	,
T15243	10433-10438	DT	denotes	these
T15244	10439-10444	NNS	denotes	plots
T15241	10445-10449	VBP	denotes	show
T15245	10450-10451	DT	denotes	a
T15247	10452-10462	JJ	denotes	contiguous
T15246	10463-10469	NN	denotes	region
T15248	10470-10471	SYM	denotes	~
T15249	10471-10474	CD	denotes	200
T15250	10475-10477	NN	denotes	kb
T15251	10478-10482	JJ	denotes	long
T15252	10483-10487	IN	denotes	with
T15253	10488-10497	VBN	denotes	decreased
T15255	10498-10502	NN	denotes	copy
T15254	10503-10509	NN	denotes	number
T15256	10510-10513	CC	denotes	and
T15257	10514-10522	JJ	denotes	apparent
T15258	10523-10535	NN	denotes	homozygosity
T15259	10536-10537	-LRB-	denotes	(
T15260	10537-10544	VBN	denotes	bounded
T15261	10545-10547	IN	denotes	by
T15262	10548-10549	DT	denotes	a
T15264	10550-10553	JJ	denotes	red
T15263	10554-10557	NN	denotes	box
T15265	10557-10558	-RRB-	denotes	)
T15266	10558-10559	.	denotes	.
T15267	10559-10655	sentence	denotes	As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15].
T15268	10560-10562	IN	denotes	As
T15270	10563-10565	PRP	denotes	we
T15271	10566-10570	VBP	denotes	have
T15269	10571-10583	VBN	denotes	demonstrated
T15273	10584-10594	RB	denotes	previously
T15274	10594-10596	,	denotes	,
T15275	10596-10600	DT	denotes	this
T15272	10601-10603	VBZ	denotes	is
T15276	10604-10614	JJ	denotes	indicative
T15277	10615-10617	IN	denotes	of
T15278	10618-10619	DT	denotes	a
T15280	10620-10632	JJ	denotes	heterozygous
T15281	10633-10640	JJ	denotes	genomic
T15279	10641-10649	NN	denotes	deletion
T15282	10650-10651	-LRB-	denotes	[
T15283	10651-10653	CD	denotes	15
T15284	10653-10654	-RRB-	denotes	]
T15285	10654-10655	.	denotes	.
T15286	10655-10755	sentence	denotes	Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1.
T15287	10656-10661	IN	denotes	Below
T15289	10662-10667	DT	denotes	these
T15290	10668-10673	NNS	denotes	plots
T15288	10674-10676	VBZ	denotes	is
T15291	10677-10678	DT	denotes	a
T15292	10679-10688	NN	denotes	schematic
T15293	10689-10691	IN	denotes	of
T15294	10692-10695	DT	denotes	the
T15296	10696-10699	CD	denotes	two
T15297	10700-10705	VBN	denotes	known
T15295	10706-10711	NNS	denotes	genes
T15298	10712-10720	VBN	denotes	affected
T15299	10721-10723	IN	denotes	by
T15300	10724-10728	DT	denotes	this
T15301	10729-10737	NN	denotes	deletion
T15302	10737-10739	,	denotes	,
T15303	10739-10744	NN	denotes	ITPR1
T15304	10745-10748	CC	denotes	and
T15305	10749-10754	NN	denotes	SUMF1
T15306	10754-10755	.	denotes	.
T15781	10766-10774	NN	denotes	Mutation
T15782	10775-10783	NN	denotes	Analysis
T15783	10784-10786	IN	denotes	in
T15784	10787-10790	DT	denotes	the
T15786	10791-10801	JJ	denotes	Australian
T15787	10802-10807	NN	denotes	SCA15
T15785	10808-10814	NN	denotes	Family
T15788	10814-10841	sentence	denotes	(Top) Pedigree of kindred.
T15789	10815-10816	-LRB-	denotes	(
T15790	10816-10819	NN	denotes	Top
T15792	10819-10820	-RRB-	denotes	)
T15791	10821-10829	NN	denotes	Pedigree
T15793	10830-10832	IN	denotes	of
T15794	10833-10840	NN	denotes	kindred
T15795	10840-10841	.	denotes	.
T15796	10841-11010	sentence	denotes	Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier.
T15797	10842-10848	VBN	denotes	Filled
T15798	10849-10856	NNS	denotes	symbols
T15799	10857-10863	VBP	denotes	denote
T15801	10864-10872	VBN	denotes	affected
T15802	10873-10884	NNS	denotes	individuals
T15803	10884-10885	:	denotes	;
T15804	10886-10890	JJ	denotes	open
T15805	10891-10898	NNS	denotes	symbols
T15807	10898-10900	,	denotes	,
T15808	10900-10910	JJ	denotes	unaffected
T15806	10911-10922	NNS	denotes	individuals
T15809	10922-10923	:	denotes	;
T15810	10924-10928	JJ	denotes	grey
T15811	10929-10935	NN	denotes	symbol
T15812	10936-10943	VBZ	denotes	denotes
T15813	10944-10951	JJ	denotes	unknown
T15815	10952-10959	NN	denotes	disease
T15814	10960-10966	NN	denotes	status
T15816	10966-10967	:	denotes	;
T15817	10968-10973	NN	denotes	bulls
T15819	10973-10974	HYPH	denotes	-
T15818	10974-10977	NN	denotes	eye
T15820	10978-10984	NN	denotes	symbol
T15800	10985-10992	VBZ	denotes	denotes
T15821	10993-11001	JJ	denotes	obligate
T15822	11002-11009	NN	denotes	carrier
T15823	11009-11010	.	denotes	.
T15824	11010-11084	sentence	denotes	w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion.
T15825	11011-11012	NN	denotes	w
T15827	11012-11013	HYPH	denotes	/
T15826	11013-11014	NN	denotes	w
T15828	11014-11016	,	denotes	,
T15829	11016-11020	JJ	denotes	wild
T15831	11020-11021	HYPH	denotes	-
T15830	11021-11025	NN	denotes	type
T15832	11026-11028	IN	denotes	at
T15833	11029-11034	NN	denotes	ITPR1
T15834	11034-11035	:	denotes	;
T15835	11036-11037	NN	denotes	w
T15837	11037-11038	HYPH	denotes	/
T15836	11038-11039	NN	denotes	m
T15838	11039-11041	,	denotes	,
T15839	11041-11053	JJ	denotes	heterozygous
T15840	11054-11061	NN	denotes	carrier
T15841	11062-11064	IN	denotes	of
T15842	11065-11068	DT	denotes	the
T15844	11069-11074	NN	denotes	ITPR1
T15843	11075-11083	NN	denotes	deletion
T15845	11083-11084	.	denotes	.
T15846	11084-11232	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	11085-11086	-LRB-	denotes	(
T15848	11086-11092	NN	denotes	Middle
T15850	11092-11093	-RRB-	denotes	)
T15849	11094-11103	JJ	denotes	Schematic
T15851	11104-11106	IN	denotes	of
T15852	11107-11113	NN	denotes	primer
T15853	11114-11119	NNS	denotes	pairs
T15854	11120-11124	VBN	denotes	used
T15855	11125-11127	TO	denotes	to
T15856	11128-11134	VB	denotes	narrow
T15857	11135-11138	DT	denotes	the
T15859	11139-11146	JJ	denotes	unknown
T15858	11147-11154	NNS	denotes	regions
T15860	11155-11162	IN	denotes	between
T15861	11163-11168	VBN	denotes	known
T15863	11169-11176	VBN	denotes	deleted
T15862	11177-11185	NN	denotes	sequence
T15864	11186-11189	CC	denotes	and
T15865	11190-11195	VBN	denotes	known
T15867	11196-11203	JJ	denotes	diploid
T15866	11204-11212	NN	denotes	sequence
T15868	11213-11215	IN	denotes	at
T15869	11216-11219	DT	denotes	the
T15871	11220-11225	NN	denotes	SCA15
T15870	11226-11231	NN	denotes	locus
T15872	11231-11232	.	denotes	.
T15873	11232-11457	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	11233-11237	CD	denotes	Nine
T15876	11238-11244	NN	denotes	primer
T15875	11245-11250	NNS	denotes	pairs
T15878	11251-11252	-LRB-	denotes	(
T15879	11252-11254	NN	denotes	T1
T15880	11254-11255	SYM	denotes	–
T15881	11255-11257	NN	denotes	T9
T15882	11257-11258	-RRB-	denotes	)
T15883	11259-11263	VBD	denotes	were
T15877	11264-11268	VBN	denotes	used
T15885	11269-11271	TO	denotes	to
T15886	11272-11279	VB	denotes	amplify
T15887	11280-11286	IN	denotes	across
T15888	11287-11290	DT	denotes	the
T15890	11291-11298	JJ	denotes	unknown
T15889	11299-11305	NN	denotes	region
T15891	11306-11315	JJ	denotes	telomeric
T15892	11316-11318	IN	denotes	to
T15893	11319-11322	DT	denotes	the
T15895	11323-11328	VBN	denotes	known
T15896	11329-11336	VBN	denotes	deleted
T15894	11337-11343	NN	denotes	region
T15897	11343-11344	:	denotes	;
T15898	11345-11347	CD	denotes	19
T15900	11348-11354	NN	denotes	primer
T15899	11355-11360	NNS	denotes	pairs
T15901	11361-11362	-LRB-	denotes	(
T15902	11362-11364	NN	denotes	C1
T15903	11364-11365	SYM	denotes	–
T15904	11365-11368	NN	denotes	C19
T15905	11368-11369	-RRB-	denotes	)
T15906	11370-11374	VBD	denotes	were
T15884	11375-11379	VBN	denotes	used
T15907	11380-11382	TO	denotes	to
T15908	11383-11390	VB	denotes	amplify
T15909	11391-11397	IN	denotes	across
T15910	11398-11401	DT	denotes	the
T15912	11402-11409	JJ	denotes	unknown
T15911	11410-11416	NN	denotes	region
T15913	11417-11428	JJ	denotes	centromeric
T15914	11429-11431	IN	denotes	to
T15915	11432-11435	DT	denotes	the
T15917	11436-11441	VBN	denotes	known
T15918	11442-11449	VBN	denotes	deleted
T15916	11450-11456	NN	denotes	region
T15919	11456-11457	.	denotes	.
T15920	11457-11521	sentence	denotes	All PCRs were carried out in the three affected family members.
T15921	11458-11461	DT	denotes	All
T15922	11462-11466	NNS	denotes	PCRs
T15924	11467-11471	VBD	denotes	were
T15923	11472-11479	VBN	denotes	carried
T15925	11480-11483	RP	denotes	out
T15926	11484-11486	IN	denotes	in
T15927	11487-11490	DT	denotes	the
T15929	11491-11496	CD	denotes	three
T15930	11497-11505	VBN	denotes	affected
T15931	11506-11512	NN	denotes	family
T15928	11513-11520	NNS	denotes	members
T15932	11520-11521	.	denotes	.
T15933	11521-11764	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	11522-11530	NN	denotes	Analysis
T15936	11531-11533	IN	denotes	of
T15937	11534-11539	DT	denotes	these
T15938	11540-11544	NNS	denotes	data
T15935	11545-11553	VBD	denotes	narrowed
T15939	11554-11557	DT	denotes	the
T15941	11558-11565	JJ	denotes	unknown
T15940	11566-11572	NN	denotes	region
T15942	11572-11574	,	denotes	,
T15943	11574-11577	CC	denotes	and
T15944	11578-11588	RB	denotes	ultimately
T15946	11589-11591	PRP	denotes	we
T15945	11592-11596	VBD	denotes	were
T15947	11597-11601	JJ	denotes	able
T15948	11602-11604	TO	denotes	to
T15949	11605-11608	VB	denotes	use
T15950	11609-11615	NN	denotes	primer
T15951	11616-11619	NN	denotes	T3f
T15952	11620-11623	CC	denotes	and
T15953	11624-11628	NN	denotes	C11r
T15954	11629-11631	TO	denotes	to
T15955	11632-11639	VB	denotes	amplify
T15956	11640-11646	IN	denotes	across
T15957	11647-11650	DT	denotes	the
T15959	11651-11659	NN	denotes	deletion
T15958	11660-11670	NN	denotes	breakpoint
T15960	11671-11673	IN	denotes	in
T15961	11674-11677	DT	denotes	the
T15963	11678-11683	CD	denotes	three
T15964	11684-11692	VBN	denotes	affected
T15965	11693-11699	NN	denotes	family
T15962	11700-11707	NNS	denotes	members
T15966	11707-11709	,	denotes	,
T15967	11709-11718	VBG	denotes	producing
T15968	11719-11720	DT	denotes	a
T15969	11721-11729	NN	denotes	fragment
T15970	11730-11732	IN	denotes	of
T15971	11733-11736	CD	denotes	953
T15972	11737-11739	NN	denotes	bp
T15973	11740-11742	IN	denotes	in
T15974	11743-11751	VBN	denotes	affected
T15975	11752-11763	NNS	denotes	individuals
T15976	11763-11764	.	denotes	.
T15977	11764-12020	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	11765-11766	-LRB-	denotes	(
T15979	11766-11772	NN	denotes	Bottom
T15981	11772-11773	-RRB-	denotes	)
T15980	11774-11777	NN	denotes	Gel
T15982	11778-11785	VBG	denotes	showing
T15983	11786-11799	NN	denotes	amplification
T15984	11800-11807	NN	denotes	product
T15985	11808-11813	VBG	denotes	using
T15986	11814-11820	NN	denotes	primer
T15987	11821-11825	NN	denotes	pair
T15988	11826-11829	NN	denotes	T3f
T15989	11830-11833	CC	denotes	and
T15990	11834-11838	NN	denotes	C11r
T15991	11839-11843	IN	denotes	from
T15992	11844-11852	VBN	denotes	affected
T15994	11853-11861	NN	denotes	pedigree
T15995	11862-11869	NNS	denotes	members
T15993	11870-11871	CD	denotes	6
T15996	11871-11873	,	denotes	,
T15997	11873-11874	CD	denotes	7
T15998	11874-11876	,	denotes	,
T15999	11876-11879	CC	denotes	and
T16000	11880-11882	CD	denotes	19
T16001	11882-11883	:	denotes	;
T16002	11884-11886	IN	denotes	in
T16003	11887-11895	NN	denotes	pedigree
T16004	11896-11902	NN	denotes	member
T16005	11903-11905	CD	denotes	23
T16006	11905-11907	,	denotes	,
T16007	11907-11911	IN	denotes	with
T16008	11912-11919	JJ	denotes	unknown
T16010	11920-11927	NN	denotes	disease
T16011	11928-11937	NN	denotes	affection
T16009	11938-11944	NN	denotes	status
T16012	11944-11945	:	denotes	;
T16013	11946-11948	IN	denotes	in
T16014	11949-11950	DT	denotes	a
T16016	11951-11965	RB	denotes	neurologically
T16017	11966-11972	JJ	denotes	normal
T16015	11973-11980	NN	denotes	control
T16018	11981-11982	-LRB-	denotes	(
T16019	11982-11983	NN	denotes	C
T16020	11983-11984	-RRB-	denotes	)
T16021	11984-11985	:	denotes	;
T16022	11986-11989	CC	denotes	and
T16023	11990-11992	IN	denotes	in
T16024	11993-11994	DT	denotes	a
T16026	11995-11997	DT	denotes	no
T16027	11998-12006	NN	denotes	template
T16025	12007-12014	NN	denotes	control
T16028	12015-12016	-LRB-	denotes	(
T16029	12016-12018	NN	denotes	NC
T16030	12018-12019	-RRB-	denotes	)
T16031	12019-12020	.	denotes	.
T7414	12021-12023	IN	denotes	In
T7416	12024-12026	DT	denotes	an
T7417	12027-12034	NN	denotes	attempt
T7418	12035-12037	TO	denotes	to
T7420	12038-12042	RB	denotes	fine
T7421	12042-12043	HYPH	denotes	-
T7419	12043-12046	VB	denotes	map
T7422	12047-12050	DT	denotes	the
T7423	12051-12062	NNS	denotes	breakpoints
T7424	12063-12065	IN	denotes	of
T7425	12066-12069	DT	denotes	the
T7427	12070-12077	NN	denotes	disease
T7429	12077-12078	HYPH	denotes	-
T7428	12078-12085	VBG	denotes	causing
T7426	12086-12094	NN	denotes	deletion
T7430	12095-12097	PRP	denotes	we
T7415	12098-12107	VBD	denotes	performed
T7431	12108-12109	DT	denotes	a
T7432	12110-12116	NN	denotes	series
T7433	12117-12119	IN	denotes	of
T7434	12120-12131	NNS	denotes	experiments
T7435	12132-12140	VBN	denotes	designed
T7436	12141-12143	TO	denotes	to
T7437	12144-12150	VB	denotes	refine
T7438	12151-12154	DT	denotes	the
T7440	12155-12162	JJ	denotes	unknown
T7439	12163-12172	NNS	denotes	intervals
T7441	12173-12175	IN	denotes	at
T7442	12176-12179	DT	denotes	the
T7443	12180-12185	NNS	denotes	edges
T7444	12186-12193	IN	denotes	between
T7445	12194-12202	JJ	denotes	definite
T7446	12203-12210	VBN	denotes	deleted
T7448	12211-12214	CC	denotes	and
T7449	12215-12223	JJ	denotes	definite
T7450	12224-12231	JJ	denotes	diploid
T7447	12232-12241	NNS	denotes	sequences
T7451	12241-12242	.	denotes	.
T7452	12242-12348	sentence	denotes	These data narrowed the unknown borders to ~4 kb on the telomeric side and ~7 kb on the centromeric side.
T7453	12243-12248	DT	denotes	These
T7454	12249-12253	NNS	denotes	data
T7455	12254-12262	VBD	denotes	narrowed
T7456	12263-12266	DT	denotes	the
T7458	12267-12274	JJ	denotes	unknown
T7457	12275-12282	NNS	denotes	borders
T7459	12283-12285	IN	denotes	to
T7460	12286-12287	SYM	denotes	~
T7461	12287-12288	CD	denotes	4
T7462	12289-12291	NN	denotes	kb
T7463	12292-12294	IN	denotes	on
T7464	12295-12298	DT	denotes	the
T7466	12299-12308	JJ	denotes	telomeric
T7465	12309-12313	NN	denotes	side
T7467	12314-12317	CC	denotes	and
T7468	12318-12319	SYM	denotes	~
T7469	12319-12320	CD	denotes	7
T7470	12321-12323	NN	denotes	kb
T7471	12324-12326	IN	denotes	on
T7472	12327-12330	DT	denotes	the
T7474	12331-12342	JJ	denotes	centromeric
T7473	12343-12347	NN	denotes	side
T7475	12347-12348	.	denotes	.
T7476	12348-12643	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	12349-12351	PRP	denotes	We
T7478	12352-12356	VBD	denotes	used
T7479	12357-12360	DT	denotes	all
T7481	12361-12369	JJ	denotes	possible
T7480	12370-12382	NNS	denotes	combinations
T7482	12383-12385	IN	denotes	of
T7483	12386-12393	JJ	denotes	forward
T7484	12394-12405	NN	denotes	orientation
T7485	12406-12413	NNS	denotes	primers
T7486	12414-12422	VBN	denotes	designed
T7487	12423-12429	IN	denotes	within
T7488	12430-12433	DT	denotes	the
T7490	12434-12439	RB	denotes	newly
T7491	12440-12447	VBN	denotes	defined
T7492	12448-12457	JJ	denotes	telomeric
T7489	12458-12466	NN	denotes	boundary
T7493	12467-12470	CC	denotes	and
T7494	12471-12473	IN	denotes	of
T7495	12474-12481	JJ	denotes	reverse
T7496	12482-12493	NN	denotes	orientation
T7497	12494-12501	NNS	denotes	primers
T7498	12502-12510	VBN	denotes	designed
T7499	12511-12517	IN	denotes	within
T7500	12518-12521	DT	denotes	the
T7502	12522-12527	RB	denotes	newly
T7503	12528-12535	VBN	denotes	defined
T7504	12536-12547	JJ	denotes	centromeric
T7501	12548-12556	NN	denotes	boundary
T7505	12557-12559	IN	denotes	in
T7506	12560-12563	NN	denotes	PCR
T7507	12564-12570	NNS	denotes	assays
T7508	12571-12573	IN	denotes	in
T7509	12574-12576	DT	denotes	an
T7510	12577-12584	NN	denotes	attempt
T7511	12585-12587	TO	denotes	to
T7512	12588-12595	VB	denotes	amplify
T7513	12596-12602	IN	denotes	across
T7514	12603-12606	DT	denotes	the
T7515	12607-12615	NN	denotes	deletion
T7516	12616-12618	IN	denotes	in
T7517	12619-12627	VBN	denotes	affected
T7519	12628-12634	NN	denotes	family
T7518	12635-12642	NNS	denotes	members
T7520	12642-12643	.	denotes	.
T7521	12643-12835	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	12644-12649	VBG	denotes	Using
T7524	12650-12653	NN	denotes	PCR
T7525	12654-12661	NNS	denotes	primers
T7526	12662-12665	NN	denotes	T3F
T7527	12666-12669	CC	denotes	and
T7528	12670-12674	NN	denotes	C11R
T7529	12674-12676	,	denotes	,
T7530	12676-12681	WDT	denotes	which
T7532	12682-12688	MD	denotes	should
T7531	12689-12691	VB	denotes	be
T7533	12692-12696	JJR	denotes	more
T7535	12697-12701	IN	denotes	than
T7534	12702-12705	CD	denotes	200
T7536	12706-12708	NN	denotes	kb
T7537	12709-12714	RB	denotes	apart
T7538	12714-12716	,	denotes	,
T7539	12716-12718	PRP	denotes	we
T7523	12719-12723	VBD	denotes	were
T7540	12724-12728	JJ	denotes	able
T7541	12729-12731	TO	denotes	to
T7542	12732-12739	VB	denotes	amplify
T7543	12740-12741	DT	denotes	a
T7544	12742-12750	NN	denotes	fragment
T7545	12751-12754	CD	denotes	953
T7546	12755-12757	NN	denotes	bp
T7547	12758-12760	IN	denotes	in
T7548	12761-12765	NN	denotes	size
T7549	12766-12771	VBG	denotes	using
T7550	12772-12775	NN	denotes	DNA
T7551	12776-12780	IN	denotes	from
T7552	12781-12785	DT	denotes	each
T7553	12786-12788	IN	denotes	of
T7554	12789-12792	DT	denotes	the
T7556	12793-12798	CD	denotes	three
T7557	12799-12807	VBN	denotes	affected
T7558	12808-12814	NN	denotes	family
T7555	12815-12822	NNS	denotes	members
T7559	12823-12825	IN	denotes	as
T7560	12826-12834	NN	denotes	template
T7561	12834-12835	.	denotes	.
T7562	12835-13006	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	12836-12846	NN	denotes	Sequencing
T7565	12847-12849	IN	denotes	of
T7566	12850-12854	DT	denotes	this
T7567	12855-12863	NN	denotes	fragment
T7564	12864-12872	VBD	denotes	revealed
T7568	12873-12874	DT	denotes	a
T7569	12875-12883	NN	denotes	deletion
T7570	12884-12886	IN	denotes	of
T7571	12887-12894	CD	denotes	201,509
T7572	12895-12897	NN	denotes	bp
T7573	12898-12899	-LRB-	denotes	(
T7575	12899-12905	NN	denotes	Figure
T7574	12906-12908	NN	denotes	S3
T7576	12908-12909	-RRB-	denotes	)
T7577	12909-12911	,	denotes	,
T7578	12911-12919	VBG	denotes	removing
T7579	12920-12923	DT	denotes	the
T7581	12924-12929	JJ	denotes	first
T7580	12930-12935	CD	denotes	three
T7582	12936-12938	IN	denotes	of
T7583	12939-12942	DT	denotes	the
T7585	12943-12947	CD	denotes	nine
T7584	12948-12953	NNS	denotes	exons
T7586	12954-12956	IN	denotes	of
T7587	12957-12962	NN	denotes	SUMF1
T7588	12963-12966	CC	denotes	and
T7589	12967-12970	DT	denotes	the
T7591	12971-12976	JJ	denotes	first
T7590	12977-12980	CD	denotes	ten
T7592	12981-12983	IN	denotes	of
T7593	12984-12987	DT	denotes	the
T7595	12988-12990	CD	denotes	58
T7594	12991-12996	NNS	denotes	exons
T7596	12997-12999	IN	denotes	of
T7597	13000-13005	NN	denotes	ITPR1
T7598	13005-13006	.	denotes	.
T7599	13006-13155	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	13007-13009	PRP	denotes	We
T7601	13010-13014	VBD	denotes	were
T7602	13015-13021	JJ	denotes	unable
T7603	13022-13024	TO	denotes	to
T7604	13025-13032	VB	denotes	amplify
T7605	13033-13036	DT	denotes	the
T7607	13037-13045	NN	denotes	deletion
T7609	13045-13046	HYPH	denotes	-
T7608	13046-13054	JJ	denotes	specific
T7606	13055-13063	NN	denotes	fragment
T7610	13064-13066	IN	denotes	in
T7611	13067-13070	DT	denotes	the
T7613	13071-13077	NN	denotes	family
T7612	13078-13084	NN	denotes	member
T7614	13085-13087	IN	denotes	of
T7615	13088-13095	JJ	denotes	unknown
T7617	13096-13105	NN	denotes	affection
T7616	13106-13112	NN	denotes	status
T7618	13112-13114	,	denotes	,
T7619	13114-13116	CC	denotes	or
T7620	13117-13119	IN	denotes	in
T7621	13120-13123	CD	denotes	275
T7623	13124-13138	RB	denotes	neurologically
T7624	13139-13145	JJ	denotes	normal
T7622	13146-13154	NNS	denotes	controls
T7625	13154-13155	.	denotes	.
T7626	13155-13407	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	13156-13158	TO	denotes	To
T7629	13159-13166	RB	denotes	further
T7628	13167-13176	VB	denotes	establish
T7631	13177-13184	JJ	denotes	genetic
T7632	13185-13193	NN	denotes	deletion
T7633	13194-13196	IN	denotes	at
T7634	13197-13202	NN	denotes	ITPR1
T7635	13203-13205	IN	denotes	as
T7636	13206-13209	DT	denotes	the
T7637	13210-13215	NN	denotes	cause
T7638	13216-13218	IN	denotes	of
T7639	13219-13224	NN	denotes	SCA15
T7640	13225-13227	PRP	denotes	we
T7630	13228-13236	VBD	denotes	analyzed
T7641	13237-13240	CD	denotes	two
T7643	13241-13251	JJ	denotes	additional
T7642	13252-13260	NNS	denotes	families
T7644	13261-13265	IN	denotes	with
T7645	13266-13268	DT	denotes	an
T7647	13269-13278	VBN	denotes	inherited
T7648	13279-13289	JJ	denotes	cerebellar
T7646	13290-13296	NN	denotes	ataxia
T7649	13297-13304	JJ	denotes	similar
T7650	13305-13307	IN	denotes	to
T7651	13308-13312	DT	denotes	that
T7652	13313-13322	VBN	denotes	described
T7653	13323-13325	IN	denotes	in
T7654	13326-13329	DT	denotes	the
T7656	13330-13334	NN	denotes	AUS1
T7655	13335-13341	NN	denotes	family
T7657	13341-13343	,	denotes	,
T7658	13343-13354	VBN	denotes	ascertained
T7659	13355-13362	IN	denotes	through
T7660	13363-13372	NN	denotes	neurology
T7661	13373-13380	NNS	denotes	clinics
T7662	13381-13383	IN	denotes	in
T7663	13384-13390	NNP	denotes	London
T7664	13390-13392	,	denotes	,
T7665	13392-13398	NNP	denotes	United
T7666	13399-13406	NNP	denotes	Kingdom
T7667	13406-13407	.	denotes	.
T7668	13407-13560	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	13408-13411	NN	denotes	DNA
T7671	13412-13421	VBN	denotes	extracted
T7672	13422-13426	IN	denotes	from
T7673	13427-13435	NNS	denotes	probands
T7674	13436-13440	IN	denotes	from
T7675	13441-13446	DT	denotes	these
T7677	13447-13450	CD	denotes	two
T7676	13451-13459	NNS	denotes	families
T7678	13460-13461	-LRB-	denotes	(
T7680	13461-13467	NN	denotes	family
T7679	13468-13471	NN	denotes	H33
T7681	13472-13475	CC	denotes	and
T7682	13476-13482	NN	denotes	family
T7683	13483-13486	NN	denotes	H27
T7684	13486-13487	-RRB-	denotes	)
T7685	13488-13492	VBD	denotes	were
T7686	13493-13497	RB	denotes	also
T7670	13498-13506	VBN	denotes	analyzed
T7687	13507-13512	VBG	denotes	using
T7688	13513-13521	NNP	denotes	Illumina
T7690	13522-13530	NNP	denotes	Infinium
T7689	13531-13542	NNP	denotes	HumanHap550
T7692	13543-13553	NN	denotes	genotyping
T7691	13554-13559	NNS	denotes	chips
T7693	13559-13560	.	denotes	.
T7694	13560-13672	sentence	denotes	These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1.
T7695	13561-13566	DT	denotes	These
T7696	13567-13578	NNS	denotes	experiments
T7697	13579-13585	VBD	denotes	showed
T7698	13586-13594	NN	denotes	deletion
T7699	13595-13597	IN	denotes	at
T7700	13598-13601	DT	denotes	the
T7702	13602-13607	NN	denotes	SCA15
T7701	13608-13613	NN	denotes	locus
T7703	13614-13616	IN	denotes	in
T7704	13617-13620	DT	denotes	all
T7706	13621-13629	VBN	denotes	affected
T7705	13630-13637	NNS	denotes	members
T7707	13638-13645	VBN	denotes	assayed
T7708	13645-13647	,	denotes	,
T7709	13647-13651	IN	denotes	from
T7710	13652-13657	NN	denotes	SUMF1
T7711	13658-13665	IN	denotes	through
T7712	13666-13671	NN	denotes	ITPR1
T7713	13671-13672	.	denotes	.
T7714	13672-13747	sentence	denotes	These mutations segregated with disease in these two families (Figure S3).
T7715	13673-13678	DT	denotes	These
T7716	13679-13688	NNS	denotes	mutations
T7717	13689-13699	VBD	denotes	segregated
T7718	13700-13704	IN	denotes	with
T7719	13705-13712	NN	denotes	disease
T7720	13713-13715	IN	denotes	in
T7721	13716-13721	DT	denotes	these
T7723	13722-13725	CD	denotes	two
T7722	13726-13734	NNS	denotes	families
T7724	13735-13736	-LRB-	denotes	(
T7726	13736-13742	NN	denotes	Figure
T7725	13743-13745	NN	denotes	S3
T7727	13745-13746	-RRB-	denotes	)
T7728	13746-13747	.	denotes	.
T7729	13747-13869	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	13748-13749	DT	denotes	A
T7731	13750-13758	NN	denotes	strategy
T7733	13759-13766	JJ	denotes	similar
T7734	13767-13769	IN	denotes	to
T7735	13770-13773	DT	denotes	the
T7736	13774-13777	CD	denotes	one
T7737	13778-13786	VBN	denotes	outlined
T7738	13787-13792	RB	denotes	above
T7732	13793-13800	VBD	denotes	enabled
T7739	13801-13803	PRP	denotes	us
T7740	13804-13806	TO	denotes	to
T7741	13807-13815	VB	denotes	sequence
T7742	13816-13820	IN	denotes	over
T7743	13821-13824	DT	denotes	the
T7744	13825-13835	NN	denotes	breakpoint
T7745	13836-13838	IN	denotes	in
T7746	13839-13845	NN	denotes	family
T7747	13846-13849	NN	denotes	H27
T7748	13850-13853	CC	denotes	but
T7749	13854-13857	RB	denotes	not
T7750	13858-13864	NN	denotes	family
T7751	13865-13868	NN	denotes	H33
T7752	13868-13869	.	denotes	.
T7753	13869-14091	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	13870-13872	IN	denotes	In
T7756	13873-13876	DT	denotes	the
T7757	13877-13883	JJ	denotes	former
T7758	13883-13885	,	denotes	,
T7759	13885-13888	DT	denotes	the
T7760	13889-13897	NN	denotes	deletion
T7755	13898-13903	VBZ	denotes	spans
T7762	13904-13911	CD	denotes	344,408
T7763	13912-13914	NN	denotes	bp
T7764	13914-13916	,	denotes	,
T7765	13916-13924	VBG	denotes	removing
T7766	13925-13930	NNS	denotes	exons
T7767	13931-13932	CD	denotes	1
T7768	13932-13933	SYM	denotes	–
T7769	13933-13934	CD	denotes	3
T7770	13935-13937	IN	denotes	of
T7771	13938-13943	NN	denotes	SUMF1
T7772	13944-13947	CC	denotes	and
T7773	13948-13949	CD	denotes	1
T7774	13949-13950	SYM	denotes	–
T7775	13950-13952	CD	denotes	44
T7776	13953-13955	IN	denotes	of
T7777	13956-13961	NN	denotes	ITPR1
T7778	13961-13962	:	denotes	;
T7779	13963-13965	IN	denotes	in
T7780	13966-13969	DT	denotes	the
T7781	13970-13976	JJ	denotes	latter
T7782	13976-13978	,	denotes	,
T7783	13978-13980	PRP	denotes	we
T7761	13981-13989	VBP	denotes	estimate
T7784	13990-13994	IN	denotes	that
T7786	13995-13998	DT	denotes	the
T7787	13999-14007	NN	denotes	deletion
T7785	14008-14010	VBZ	denotes	is
T7788	14011-14014	CD	denotes	310
T7789	14015-14017	NN	denotes	kb
T7790	14018-14020	IN	denotes	in
T7791	14021-14027	NN	denotes	length
T7792	14028-14031	CC	denotes	and
T7793	14032-14036	IN	denotes	that
T7795	14037-14039	PRP	denotes	it
T7794	14040-14047	VBZ	denotes	removes
T7796	14048-14053	NNS	denotes	exons
T7797	14054-14055	CD	denotes	1
T7798	14055-14056	SYM	denotes	–
T7799	14056-14057	CD	denotes	3
T7800	14058-14060	IN	denotes	of
T7801	14061-14066	NN	denotes	SUMF1
T7802	14067-14070	CC	denotes	and
T7803	14071-14076	NNS	denotes	exons
T7804	14077-14078	CD	denotes	1
T7805	14078-14079	SYM	denotes	–
T7806	14079-14081	CD	denotes	40
T7807	14082-14084	IN	denotes	of
T7808	14085-14090	NN	denotes	ITPR1
T7809	14090-14091	.	denotes	.
T7810	14091-14357	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	14092-14095	DT	denotes	The
T7812	14096-14100	NN	denotes	site
T7814	14101-14103	IN	denotes	of
T7815	14104-14112	NN	denotes	mutation
T7813	14113-14115	VBZ	denotes	is
T7817	14116-14118	IN	denotes	of
T7818	14119-14127	NN	denotes	interest
T7819	14127-14129	,	denotes	,
T7820	14129-14141	RB	denotes	particularly
T7822	14142-14145	DT	denotes	the
T7821	14146-14150	NN	denotes	fact
T7823	14151-14155	IN	denotes	that
T7825	14156-14158	IN	denotes	in
T7826	14159-14163	DT	denotes	each
T7827	14164-14166	IN	denotes	of
T7828	14167-14170	DT	denotes	the
T7830	14171-14176	CD	denotes	three
T7829	14177-14185	NNS	denotes	families
T7831	14186-14189	DT	denotes	the
T7833	14190-14199	JJ	denotes	telomeric
T7832	14200-14203	NN	denotes	end
T7834	14204-14206	IN	denotes	of
T7835	14207-14210	DT	denotes	the
T7836	14211-14219	NN	denotes	deletion
T7837	14220-14222	VBZ	denotes	is
T7824	14223-14231	VBN	denotes	anchored
T7838	14232-14239	IN	denotes	between
T7839	14240-14245	NNS	denotes	exons
T7840	14246-14247	CD	denotes	3
T7841	14248-14251	CC	denotes	and
T7842	14252-14253	CD	denotes	4
T7843	14254-14256	IN	denotes	of
T7844	14257-14262	NN	denotes	SUMF1
T7845	14262-14263	:	denotes	;
T7846	14264-14272	NN	denotes	sequence
T7847	14273-14281	NNS	denotes	searches
T7816	14282-14288	VBD	denotes	failed
T7848	14289-14291	TO	denotes	to
T7849	14292-14300	VB	denotes	identify
T7850	14301-14304	DT	denotes	any
T7852	14305-14311	NN	denotes	repeat
T7851	14312-14321	NNS	denotes	sequences
T7853	14322-14326	WDT	denotes	that
T7855	14327-14332	MD	denotes	might
T7854	14333-14340	VB	denotes	explain
T7856	14341-14345	DT	denotes	this
T7857	14346-14356	NN	denotes	phenomenon
T7858	14356-14357	.	denotes	.
T7859	14357-14708	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	14358-14362	IN	denotes	With
T7862	14363-14368	CD	denotes	three
T7864	14369-14379	JJ	denotes	cerebellar
T7865	14380-14386	NN	denotes	ataxia
T7863	14387-14395	NNS	denotes	families
T7866	14396-14407	VBG	denotes	segregating
T7867	14408-14409	DT	denotes	a
T7869	14410-14415	NN	denotes	SUMF1
T7871	14415-14416	HYPH	denotes	–
T7870	14416-14421	NN	denotes	ITPR1
T7868	14422-14430	NN	denotes	deletion
T7872	14430-14432	,	denotes	,
T7873	14432-14435	CC	denotes	and
T7874	14436-14440	DT	denotes	this
T7875	14441-14449	NN	denotes	deletion
T7876	14450-14453	RB	denotes	not
T7877	14454-14462	VBN	denotes	observed
T7878	14463-14465	IN	denotes	in
T7879	14466-14467	DT	denotes	a
T7881	14468-14475	NN	denotes	control
T7880	14476-14486	NN	denotes	population
T7882	14486-14488	,	denotes	,
T7883	14488-14490	PRP	denotes	we
T7884	14491-14494	MD	denotes	may
T7885	14495-14505	RB	denotes	reasonably
T7861	14506-14514	VB	denotes	conclude
T7886	14515-14519	IN	denotes	that
T7888	14520-14523	DT	denotes	the
T7889	14524-14535	NN	denotes	association
T7887	14536-14538	VBZ	denotes	is
T7890	14539-14545	JJ	denotes	causal
T7891	14545-14547	,	denotes	,
T7892	14547-14550	CC	denotes	and
T7893	14551-14555	IN	denotes	that
T7895	14556-14559	DT	denotes	the
T7896	14560-14568	NN	denotes	deletion
T7894	14569-14571	VBZ	denotes	is
T7897	14572-14578	RB	denotes	indeed
T7898	14579-14582	DT	denotes	the
T7900	14583-14590	JJ	denotes	genetic
T7899	14591-14596	NN	denotes	basis
T7901	14597-14599	IN	denotes	of
T7902	14600-14603	DT	denotes	the
T7903	14604-14611	NN	denotes	disease
T7904	14611-14613	,	denotes	,
T7905	14613-14617	IN	denotes	with
T7907	14618-14623	NN	denotes	SCA15
T7908	14624-14627	DT	denotes	the
T7906	14628-14637	NN	denotes	diagnosis
T7909	14638-14640	IN	denotes	in
T7910	14641-14644	DT	denotes	the
T7912	14645-14648	CD	denotes	two
T7913	14649-14656	JJ	denotes	British
T7911	14657-14665	NNS	denotes	families
T7914	14666-14668	RB	denotes	as
T7916	14669-14673	RB	denotes	well
T7915	14674-14676	IN	denotes	as
T7917	14677-14680	DT	denotes	the
T7919	14681-14689	JJ	denotes	original
T7920	14690-14700	JJ	denotes	Australian
T7918	14701-14707	NN	denotes	family
T7921	14707-14708	.	denotes	.
T7922	14708-14853	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	14709-14711	PRP	denotes	It
T7924	14712-14714	VBZ	denotes	is
T7925	14715-14725	JJ	denotes	improbable
T7926	14726-14730	IN	denotes	that
T7928	14731-14745	NN	denotes	heterozygosity
T7929	14746-14749	IN	denotes	for
T7930	14750-14753	DT	denotes	the
T7931	14754-14762	NN	denotes	deletion
T7932	14763-14765	IN	denotes	of
T7933	14766-14771	NN	denotes	SUMF1
T7934	14771-14773	,	denotes	,
T7935	14773-14781	VBG	denotes	encoding
T7936	14782-14791	NN	denotes	sulfatase
T7938	14792-14801	VBG	denotes	modifying
T7937	14802-14808	NN	denotes	factor
T7939	14809-14810	CD	denotes	1
T7940	14810-14812	,	denotes	,
T7941	14812-14814	IN	denotes	of
T7942	14815-14821	PRP	denotes	itself
T7927	14822-14828	VBZ	denotes	causes
T7943	14829-14831	CC	denotes	or
T7944	14832-14843	VBZ	denotes	contributes
T7945	14844-14846	IN	denotes	to
T7946	14847-14852	NN	denotes	SCA15
T7947	14852-14853	.	denotes	.
T7948	14853-15043	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	14854-14864	JJ	denotes	Homozygous
T7950	14865-14873	NN	denotes	mutation
T7952	14874-14876	IN	denotes	of
T7953	14877-14882	NN	denotes	SUMF1
T7951	14883-14890	VBZ	denotes	results
T7954	14891-14893	IN	denotes	in
T7955	14894-14903	JJ	denotes	autosomal
T7957	14904-14913	JJ	denotes	recessive
T7958	14914-14922	JJ	denotes	multiple
T7959	14923-14932	NN	denotes	sulfatase
T7956	14933-14943	NN	denotes	deficiency
T7960	14943-14945	,	denotes	,
T7961	14945-14946	DT	denotes	a
T7963	14947-14956	JJ	denotes	metabolic
T7962	14957-14965	NN	denotes	disorder
T7964	14966-14979	VBN	denotes	characterized
T7965	14980-14982	IN	denotes	by
T7966	14983-15001	NN	denotes	hepatosplenomegaly
T7967	15001-15003	,	denotes	,
T7968	15003-15011	NN	denotes	deafness
T7969	15011-15013	,	denotes	,
T7970	15013-15016	CC	denotes	and
T7971	15017-15030	JJ	denotes	developmental
T7972	15031-15036	NN	denotes	delay
T7973	15037-15038	-LRB-	denotes	[
T7975	15038-15039	CD	denotes	6
T7976	15039-15040	,	denotes	,
T7974	15040-15041	CD	denotes	7
T7977	15041-15042	-RRB-	denotes	]
T7978	15042-15043	.	denotes	.
T7979	15043-15163	sentence	denotes	No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency.
T7980	15044-15046	DT	denotes	No
T7981	15047-15060	NN	denotes	co-occurrence
T7983	15061-15063	IN	denotes	of
T7984	15064-15070	NN	denotes	ataxia
T7985	15071-15074	VBZ	denotes	has
T7986	15075-15079	VBN	denotes	been
T7982	15080-15089	VBN	denotes	described
T7987	15090-15092	IN	denotes	in
T7988	15093-15094	-LRB-	denotes	(
T7990	15094-15106	JJ	denotes	heterozygous
T7991	15106-15107	-RRB-	denotes	)
T7989	15108-15115	NNS	denotes	parents
T7992	15116-15118	IN	denotes	of
T7993	15119-15127	NNS	denotes	patients
T7994	15128-15132	IN	denotes	with
T7995	15133-15141	JJ	denotes	multiple
T7997	15142-15151	NN	denotes	sulfatase
T7996	15152-15162	NN	denotes	deficiency
T7998	15162-15163	.	denotes	.
T7999	15163-15504	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	15164-15174	RB	denotes	Conversely
T8002	15174-15176	,	denotes	,
T8003	15176-15184	NN	denotes	mutation
T8005	15185-15187	IN	denotes	of
T8006	15188-15193	NN	denotes	ITPR1
T8004	15194-15196	VBZ	denotes	is
T8007	15197-15209	RB	denotes	biologically
T8008	15210-15219	JJ	denotes	plausible
T8009	15220-15222	IN	denotes	as
T8010	15223-15224	DT	denotes	a
T8011	15225-15230	NN	denotes	cause
T8012	15231-15233	IN	denotes	of
T8013	15234-15240	NN	denotes	ataxia
T8014	15240-15242	:	denotes	:
T8015	15242-15245	DT	denotes	the
T8016	15246-15253	NN	denotes	protein
T8018	15254-15256	VBZ	denotes	is
T8019	15257-15263	RB	denotes	highly
T8017	15264-15273	VBN	denotes	expressed
T8020	15274-15276	IN	denotes	in
T8021	15277-15285	NNP	denotes	Purkinje
T8022	15286-15291	NNS	denotes	cells
T8023	15291-15292	:	denotes	;
T8024	15293-15295	IN	denotes	as
T8026	15296-15298	PRP	denotes	we
T8027	15299-15303	VBP	denotes	have
T8025	15304-15309	VBN	denotes	shown
T8028	15310-15314	RB	denotes	here
T8029	15314-15316	,	denotes	,
T8030	15316-15320	NNS	denotes	mice
T8031	15321-15325	IN	denotes	with
T8032	15326-15334	NN	denotes	mutation
T8033	15335-15337	IN	denotes	at
T8034	15338-15342	DT	denotes	this
T8035	15343-15348	NN	denotes	locus
T8001	15349-15356	VBP	denotes	present
T8036	15357-15361	IN	denotes	with
T8037	15362-15368	NN	denotes	ataxia
T8038	15368-15369	:	denotes	;
T8039	15370-15373	CC	denotes	and
T8040	15374-15383	VBN	denotes	perturbed
T8042	15384-15388	NN	denotes	Ca2+
T8041	15389-15398	NN	denotes	signaling
T8044	15399-15402	VBZ	denotes	has
T8045	15403-15413	RB	denotes	previously
T8046	15414-15418	VBN	denotes	been
T8043	15419-15429	VBN	denotes	implicated
T8047	15430-15432	IN	denotes	in
T8048	15433-15436	DT	denotes	the
T8049	15437-15445	NN	denotes	etiology
T8050	15446-15448	IN	denotes	of
T8051	15449-15455	NN	denotes	ataxia
T8052	15455-15457	,	denotes	,
T8053	15457-15464	RB	denotes	notably
T8054	15465-15467	IN	denotes	in
T8055	15468-15476	JJ	denotes	episodic
T8057	15477-15483	NN	denotes	ataxia
T8056	15484-15488	NN	denotes	type
T8058	15489-15490	CD	denotes	2
T8059	15491-15494	CC	denotes	and
T8060	15495-15499	NN	denotes	SCA6
T8061	15500-15501	-LRB-	denotes	[
T8062	15501-15502	CD	denotes	8
T8063	15502-15503	-RRB-	denotes	]
T8064	15503-15504	.	denotes	.
T8065	15504-15829	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	15505-15507	IN	denotes	In
T8068	15508-15515	JJ	denotes	further
T8069	15516-15523	NN	denotes	support
T8070	15524-15526	IN	denotes	of
T8071	15527-15531	DT	denotes	this
T8072	15532-15542	NN	denotes	conclusion
T8073	15542-15544	,	denotes	,
T8074	15544-15552	NN	denotes	analysis
T8075	15553-15555	IN	denotes	of
T8076	15556-15563	NN	denotes	protein
T8077	15564-15570	NNS	denotes	levels
T8078	15571-15573	IN	denotes	of
T8079	15574-15579	NN	denotes	ITPR1
T8080	15580-15582	IN	denotes	in
T8081	15583-15590	NN	denotes	Epstein
T8083	15590-15591	HYPH	denotes	-
T8082	15591-15595	NN	denotes	Barr
T8084	15596-15601	NN	denotes	virus
T8086	15602-15603	-LRB-	denotes	(
T8087	15603-15606	NN	denotes	EBV
T8088	15606-15607	-RRB-	denotes	)
T8089	15608-15620	VBN	denotes	immortalized
T8085	15621-15632	NNS	denotes	lymphocytes
T8090	15633-15637	IN	denotes	from
T8091	15638-15646	VBN	denotes	affected
T8093	15647-15650	CC	denotes	and
T8094	15651-15661	JJ	denotes	unaffected
T8095	15662-15666	NN	denotes	AUS1
T8096	15667-15673	NN	denotes	family
T8092	15674-15681	NNS	denotes	members
T8067	15682-15690	VBD	denotes	revealed
T8097	15691-15695	IN	denotes	that
T8099	15696-15699	DT	denotes	all
T8101	15700-15708	VBN	denotes	affected
T8100	15709-15716	NNS	denotes	members
T8098	15717-15723	VBD	denotes	showed
T8102	15724-15725	DT	denotes	a
T8104	15726-15734	JJ	denotes	dramatic
T8103	15735-15743	NN	denotes	decrease
T8105	15744-15746	IN	denotes	in
T8106	15747-15752	NN	denotes	ITPR1
T8107	15753-15759	NNS	denotes	levels
T8108	15760-15764	WRB	denotes	when
T8109	15765-15773	VBN	denotes	compared
T8110	15774-15778	IN	denotes	with
T8111	15779-15782	DT	denotes	the
T8113	15783-15789	NN	denotes	family
T8112	15790-15796	NN	denotes	member
T8114	15797-15804	IN	denotes	without
T8115	15805-15808	DT	denotes	the
T8116	15809-15817	NN	denotes	deletion
T8117	15818-15819	-LRB-	denotes	(
T8118	15819-15825	NN	denotes	Figure
T8119	15826-15827	CD	denotes	4
T8120	15827-15828	-RRB-	denotes	)
T8121	15828-15829	.	denotes	.
T8122	15829-16631	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.
T16245	15840-15847	NNP	denotes	Western
T16246	15848-15852	NN	denotes	Blot
T16247	15853-15861	NN	denotes	Analysis
T16248	15862-15864	IN	denotes	of
T16249	15865-15870	NN	denotes	ITPR1
T16251	15871-15878	NN	denotes	Protein
T16250	15879-15885	NNS	denotes	Levels
T16252	15886-15888	IN	denotes	in
T16253	15889-15892	NN	denotes	EBV
T16255	15893-15905	VBN	denotes	Immortalized
T16254	15906-15918	NNS	denotes	Lymphoblasts
T16256	15919-15923	IN	denotes	from
T16257	15924-15928	NN	denotes	AUS1
T16259	15929-15935	NN	denotes	Family
T16258	15936-15943	NNS	denotes	Members
T16260	15943-16174	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	15944-15951	NNP	denotes	Western
T16262	15952-15956	NN	denotes	blot
T16263	15957-15966	VBN	denotes	performed
T16264	15967-15969	TO	denotes	to
T16265	15970-15977	VB	denotes	examine
T16266	15978-15983	NN	denotes	ITPR1
T16267	15984-15990	NNS	denotes	levels
T16268	15991-15993	IN	denotes	in
T16269	15994-15997	NN	denotes	EBV
T16271	15998-16010	VBN	denotes	immortalized
T16270	16011-16022	NNS	denotes	lymphocytes
T16272	16023-16027	IN	denotes	from
T16273	16028-16032	NN	denotes	AUS1
T16274	16033-16041	VBN	denotes	affected
T16276	16042-16048	NN	denotes	family
T16275	16049-16056	NNS	denotes	members
T16277	16057-16065	VBG	denotes	carrying
T16278	16066-16069	DT	denotes	the
T16280	16070-16075	NN	denotes	ITPR1
T16279	16076-16084	NN	denotes	deletion
T16281	16085-16088	CC	denotes	and
T16282	16089-16093	IN	denotes	from
T16283	16094-16096	DT	denotes	an
T16285	16097-16101	NN	denotes	AUS1
T16286	16102-16108	NN	denotes	family
T16284	16109-16115	NN	denotes	member
T16287	16116-16118	IN	denotes	of
T16288	16119-16126	JJ	denotes	unknown
T16290	16127-16134	NN	denotes	disease
T16289	16135-16141	NN	denotes	status
T16291	16142-16145	WP	denotes	who
T16293	16146-16150	VBZ	denotes	does
T16294	16151-16154	RB	denotes	not
T16292	16155-16160	VB	denotes	carry
T16295	16161-16164	DT	denotes	the
T16296	16165-16173	NN	denotes	deletion
T16297	16173-16174	.	denotes	.
T16298	16174-16270	sentence	denotes	Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels.
T16299	16175-16182	RB	denotes	Notably
T16301	16183-16186	DT	denotes	the
T16302	16187-16194	NNS	denotes	samples
T16303	16195-16199	IN	denotes	from
T16304	16200-16208	NNS	denotes	patients
T16305	16209-16213	IN	denotes	with
T16306	16214-16219	NN	denotes	ITPR1
T16307	16220-16228	NN	denotes	deletion
T16300	16229-16233	VBP	denotes	show
T16308	16234-16235	DT	denotes	a
T16310	16236-16244	JJ	denotes	dramatic
T16309	16245-16253	NN	denotes	decrease
T16311	16254-16256	IN	denotes	in
T16312	16257-16262	NN	denotes	ITPR1
T16313	16263-16269	NNS	denotes	levels
T16314	16269-16270	.	denotes	.
T16315	16270-16406	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	16271-16273	TO	denotes	To
T16317	16274-16285	VB	denotes	demonstrate
T16319	16286-16291	JJ	denotes	equal
T16320	16292-16299	NN	denotes	loading
T16321	16299-16301	,	denotes	,
T16322	16301-16306	DT	denotes	these
T16323	16307-16314	NNS	denotes	samples
T16324	16315-16319	VBD	denotes	were
T16318	16320-16327	VBN	denotes	diluted
T16325	16328-16331	CD	denotes	one
T16326	16332-16334	IN	denotes	in
T16327	16335-16339	CD	denotes	five
T16328	16339-16341	,	denotes	,
T16329	16341-16344	CC	denotes	and
T16330	16345-16348	DT	denotes	the
T16332	16349-16356	NNP	denotes	Western
T16331	16357-16361	NN	denotes	blot
T16334	16362-16365	VBD	denotes	was
T16333	16366-16374	VBN	denotes	repeated
T16335	16375-16380	VBG	denotes	using
T16336	16381-16383	DT	denotes	an
T16337	16384-16392	NN	denotes	antibody
T16338	16393-16400	IN	denotes	against
T16339	16401-16405	NN	denotes	ACTB
T16340	16405-16406	.	denotes	.
T8123	16407-16412	NN	denotes	Itpr1
T8124	16413-16421	VBZ	denotes	contains
T8126	16422-16427	CD	denotes	three
T8127	16428-16435	NNS	denotes	domains
T8128	16435-16437	,	denotes	,
T8129	16437-16439	DT	denotes	an
T8131	16440-16441	NN	denotes	N
T8133	16441-16442	HYPH	denotes	-
T8132	16442-16450	JJ	denotes	terminal
T8134	16451-16459	NN	denotes	inositol
T8135	16460-16472	NN	denotes	triphosphate
T8136	16473-16480	NN	denotes	binding
T8130	16481-16487	NN	denotes	domain
T8137	16487-16489	,	denotes	,
T8138	16489-16490	DT	denotes	a
T8140	16491-16499	VBG	denotes	coupling
T8139	16500-16506	NN	denotes	domain
T8141	16506-16508	,	denotes	,
T8142	16508-16511	CC	denotes	and
T8143	16512-16513	DT	denotes	a
T8145	16514-16515	NN	denotes	C
T8147	16515-16516	HYPH	denotes	-
T8146	16516-16524	JJ	denotes	terminal
T8148	16525-16538	NN	denotes	transmembrane
T8144	16539-16545	NN	denotes	domain
T8149	16545-16546	:	denotes	;
T8150	16547-16549	PRP	denotes	it
T8151	16550-16554	RB	denotes	also
T8125	16555-16563	VBZ	denotes	contains
T8152	16564-16567	CD	denotes	two
T8154	16568-16575	NN	denotes	protein
T8156	16576-16582	NN	denotes	kinase
T8155	16583-16584	NN	denotes	A
T8157	16585-16600	NN	denotes	phosphorylation
T8153	16601-16606	NNS	denotes	sites
T8158	16607-16610	CC	denotes	and
T8159	16611-16613	DT	denotes	an
T8161	16614-16617	NN	denotes	ATP
T8163	16617-16618	HYPH	denotes	-
T8162	16618-16625	VBG	denotes	binding
T8160	16626-16630	NN	denotes	site
T8164	16630-16631	.	denotes	.
T8165	16631-16810	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	16632-16637	NN	denotes	Itpr1
T8168	16638-16640	VBZ	denotes	is
T8167	16641-16648	VBN	denotes	coupled
T8169	16649-16651	IN	denotes	to
T8170	16652-16656	NN	denotes	Ca2+
T8171	16657-16665	NNS	denotes	channels
T8172	16666-16669	CC	denotes	and
T8173	16670-16681	VBZ	denotes	facilitates
T8174	16682-16686	NN	denotes	Ca2+
T8175	16687-16694	NN	denotes	release
T8176	16695-16699	IN	denotes	from
T8177	16700-16703	DT	denotes	the
T8179	16704-16715	JJ	denotes	endoplasmic
T8178	16716-16725	NN	denotes	reticulum
T8180	16726-16731	IN	denotes	after
T8181	16732-16739	NN	denotes	binding
T8182	16740-16742	IN	denotes	by
T8183	16743-16746	DT	denotes	the
T8185	16747-16760	JJ	denotes	intracellular
T8186	16761-16767	JJ	denotes	second
T8184	16768-16777	NN	denotes	messenger
T8187	16778-16786	NN	denotes	inositol
T8189	16787-16788	CD	denotes	1
T8191	16788-16789	,	denotes	,
T8192	16789-16790	CD	denotes	4
T8193	16790-16791	,	denotes	,
T8190	16791-16792	CD	denotes	5
T8194	16792-16793	HYPH	denotes	-
T8188	16793-16805	NN	denotes	triphosphate
T8195	16806-16807	-LRB-	denotes	[
T8196	16807-16808	CD	denotes	9
T8197	16808-16809	-RRB-	denotes	]
T8198	16809-16810	.	denotes	.
T8199	16810-16873	sentence	denotes	Itpr1 is enriched in the Purkinje cells of the cerebellum [4].
T8200	16811-16816	NN	denotes	Itpr1
T8202	16817-16819	VBZ	denotes	is
T8201	16820-16828	VBN	denotes	enriched
T8203	16829-16831	IN	denotes	in
T8204	16832-16835	DT	denotes	the
T8206	16836-16844	NNP	denotes	Purkinje
T8205	16845-16850	NNS	denotes	cells
T8207	16851-16853	IN	denotes	of
T8208	16854-16857	DT	denotes	the
T8209	16858-16868	NN	denotes	cerebellum
T8210	16869-16870	-LRB-	denotes	[
T8211	16870-16871	CD	denotes	4
T8212	16871-16872	-RRB-	denotes	]
T8213	16872-16873	.	denotes	.
T8214	16873-16940	sentence	denotes	ITPR1 mutations have more than one potential pathogenic mechanism.
T8215	16874-16879	NN	denotes	ITPR1
T8216	16880-16889	NNS	denotes	mutations
T8217	16890-16894	VBP	denotes	have
T8218	16895-16899	JJR	denotes	more
T8220	16900-16904	IN	denotes	than
T8219	16905-16908	CD	denotes	one
T8222	16909-16918	JJ	denotes	potential
T8223	16919-16929	JJ	denotes	pathogenic
T8221	16930-16939	NN	denotes	mechanism
T8224	16939-16940	.	denotes	.
T8225	16940-17264	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	16941-16946	RB	denotes	First
T8228	16946-16948	,	denotes	,
T8229	16948-16951	DT	denotes	the
T8230	16952-16959	NN	denotes	disease
T8232	16960-16963	MD	denotes	may
T8231	16964-16966	VB	denotes	be
T8233	16967-16968	DT	denotes	a
T8234	16969-16975	NN	denotes	result
T8235	16976-16978	IN	denotes	of
T8236	16979-16997	NN	denotes	haploinsufficiency
T8237	16998-17000	IN	denotes	at
T8238	17001-17006	NN	denotes	ITPR1
T8239	17006-17007	:	denotes	;
T8240	17008-17012	DT	denotes	this
T8241	17013-17020	NN	denotes	concept
T8227	17021-17023	VBZ	denotes	is
T8242	17024-17034	JJ	denotes	consistent
T8243	17035-17039	IN	denotes	with
T8244	17040-17043	DT	denotes	the
T8245	17044-17055	NN	denotes	observation
T8246	17056-17060	IN	denotes	that
T8248	17061-17073	JJ	denotes	heterozygous
T8249	17074-17082	NN	denotes	deletion
T8247	17083-17088	VBZ	denotes	leads
T8250	17089-17091	IN	denotes	to
T8251	17092-17093	DT	denotes	a
T8253	17094-17099	JJ	denotes	later
T8254	17100-17105	NN	denotes	onset
T8252	17106-17114	NN	denotes	disorder
T8255	17115-17117	IN	denotes	in
T8256	17118-17124	NNS	denotes	humans
T8257	17124-17126	,	denotes	,
T8258	17126-17133	IN	denotes	whereas
T8260	17134-17144	JJ	denotes	homozygous
T8261	17145-17153	NN	denotes	deletion
T8262	17154-17156	IN	denotes	in
T8263	17157-17161	NNS	denotes	mice
T8259	17162-17167	VBZ	denotes	leads
T8264	17168-17170	IN	denotes	to
T8265	17171-17173	DT	denotes	an
T8267	17174-17179	JJ	denotes	early
T8268	17180-17185	NN	denotes	onset
T8266	17186-17194	NN	denotes	disorder
T8269	17194-17196	,	denotes	,
T8270	17196-17200	JJ	denotes	able
T8271	17201-17203	TO	denotes	to
T8273	17204-17206	VB	denotes	be
T8272	17207-17216	VBN	denotes	expressed
T8274	17217-17223	IN	denotes	within
T8275	17224-17227	DT	denotes	the
T8277	17228-17232	RB	denotes	much
T8278	17233-17240	JJR	denotes	shorter
T8279	17241-17245	NN	denotes	life
T8276	17246-17250	NN	denotes	span
T8280	17251-17253	IN	denotes	of
T8281	17254-17257	DT	denotes	the
T8282	17258-17263	NN	denotes	mouse
T8283	17263-17264	.	denotes	.
T8284	17264-17667	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	17265-17271	RB	denotes	Second
T8287	17271-17273	,	denotes	,
T8288	17273-17275	PRP	denotes	we
T8290	17276-17279	MD	denotes	can
T8291	17279-17282	RB	denotes	not
T8289	17283-17287	VB	denotes	rule
T8292	17288-17291	RP	denotes	out
T8293	17292-17295	DT	denotes	the
T8294	17296-17305	NN	denotes	existence
T8295	17306-17308	IN	denotes	of
T8296	17309-17311	DT	denotes	an
T8298	17312-17321	JJ	denotes	alternate
T8299	17322-17327	NN	denotes	start
T8297	17328-17332	NN	denotes	site
T8300	17333-17336	IN	denotes	for
T8301	17337-17342	NN	denotes	ITPR1
T8302	17343-17347	WDT	denotes	that
T8304	17348-17351	MD	denotes	may
T8303	17352-17358	VB	denotes	result
T8305	17359-17361	IN	denotes	in
T8306	17362-17363	DT	denotes	a
T8307	17364-17371	NN	denotes	product
T8308	17372-17376	WDT	denotes	that
T8309	17377-17384	VBZ	denotes	confers
T8310	17385-17386	DT	denotes	a
T8312	17387-17397	JJ	denotes	pathogenic
T8311	17398-17402	NN	denotes	gain
T8313	17403-17405	IN	denotes	of
T8314	17406-17414	NN	denotes	function
T8315	17415-17417	IN	denotes	to
T8316	17418-17421	DT	denotes	the
T8317	17422-17429	NN	denotes	protein
T8318	17429-17430	:	denotes	;
T8319	17431-17438	RB	denotes	however
T8320	17438-17440	,	denotes	,
T8321	17440-17447	NNP	denotes	Western
T8322	17448-17452	NN	denotes	blot
T8323	17453-17461	NN	denotes	analysis
T8324	17462-17464	IN	denotes	of
T8325	17465-17470	NNS	denotes	cells
T8326	17471-17478	VBN	denotes	derived
T8327	17479-17483	IN	denotes	from
T8328	17484-17492	VBN	denotes	affected
T8330	17493-17497	NN	denotes	AUS1
T8331	17498-17504	NN	denotes	family
T8329	17505-17512	NNS	denotes	members
T8332	17512-17514	,	denotes	,
T8333	17514-17519	WDT	denotes	which
T8335	17520-17523	VBD	denotes	was
T8334	17524-17533	VBN	denotes	performed
T8336	17534-17539	VBG	denotes	using
T8337	17540-17542	DT	denotes	an
T8338	17543-17551	NN	denotes	antibody
T8339	17552-17558	VBN	denotes	raised
T8340	17559-17566	IN	denotes	against
T8341	17567-17570	DT	denotes	the
T8343	17571-17572	NN	denotes	C
T8345	17572-17573	HYPH	denotes	-
T8344	17573-17581	JJ	denotes	terminal
T8342	17582-17589	NN	denotes	portion
T8346	17590-17592	IN	denotes	of
T8347	17593-17598	NN	denotes	ITPR1
T8348	17598-17600	,	denotes	,
T8286	17600-17606	VBD	denotes	failed
T8349	17607-17609	TO	denotes	to
T8350	17610-17618	VB	denotes	identify
T8351	17619-17622	DT	denotes	any
T8353	17623-17630	NN	denotes	disease
T8355	17630-17631	HYPH	denotes	-
T8354	17631-17639	JJ	denotes	specific
T8356	17640-17649	VBN	denotes	truncated
T8357	17650-17657	NN	denotes	protein
T8352	17658-17666	NNS	denotes	products
T8358	17666-17667	.	denotes	.
T8359	17667-17803	sentence	denotes	Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder.
T8360	17668-17675	RB	denotes	Clearly
T8362	17675-17677	,	denotes	,
T8363	17677-17680	DT	denotes	the
T8364	17681-17695	NN	denotes	identification
T8365	17696-17698	IN	denotes	of
T8366	17699-17707	JJ	denotes	distinct
T8368	17708-17713	NN	denotes	ITPR1
T8367	17714-17723	NNS	denotes	mutations
T8369	17724-17734	VBG	denotes	underlying
T8370	17735-17740	NN	denotes	SCA15
T8371	17741-17745	MD	denotes	will
T8361	17746-17750	VB	denotes	help
T8372	17751-17760	VB	denotes	elucidate
T8373	17761-17764	DT	denotes	the
T8375	17765-17775	JJ	denotes	pathogenic
T8374	17776-17785	NN	denotes	mechanism
T8376	17786-17788	IN	denotes	of
T8377	17789-17793	DT	denotes	this
T8378	17794-17802	NN	denotes	disorder
T8379	17802-17803	.	denotes	.
T8380	17803-17905	sentence	denotes	We show here the utility of investigating spontaneous mouse mutations in understanding human disease.
T8381	17804-17806	PRP	denotes	We
T8382	17807-17811	VBP	denotes	show
T8383	17812-17816	RB	denotes	here
T8384	17817-17820	DT	denotes	the
T8385	17821-17828	NN	denotes	utility
T8386	17829-17831	IN	denotes	of
T8387	17832-17845	VBG	denotes	investigating
T8388	17846-17857	JJ	denotes	spontaneous
T8390	17858-17863	NN	denotes	mouse
T8389	17864-17873	NNS	denotes	mutations
T8391	17874-17876	IN	denotes	in
T8392	17877-17890	VBG	denotes	understanding
T8393	17891-17896	JJ	denotes	human
T8394	17897-17904	NN	denotes	disease
T8395	17904-17905	.	denotes	.
T8396	17905-18152	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	17906-17915	RB	denotes	Currently
T8399	17915-17917	,	denotes	,
T8400	17917-17920	DT	denotes	the
T8402	17921-17926	JJ	denotes	small
T8401	17927-17933	NN	denotes	number
T8403	17934-17936	IN	denotes	of
T8404	17937-17941	VBN	denotes	aged
T8406	17942-17949	NN	denotes	Itpr1wt
T8408	17949-17950	HYPH	denotes	/
T8407	17950-17953	NN	denotes	Δ18
T8405	17954-17961	NNS	denotes	animals
T8398	17962-17971	VBZ	denotes	precludes
T8410	17972-17974	PRP	denotes	us
T8411	17975-17979	IN	denotes	from
T8412	17980-17989	VBG	denotes	examining
T8413	17990-17995	DT	denotes	these
T8414	17996-18000	NNS	denotes	mice
T8415	18001-18004	IN	denotes	for
T8416	18005-18011	JJ	denotes	subtle
T8417	18012-18017	NNS	denotes	signs
T8418	18018-18021	CC	denotes	and
T8419	18022-18030	NNS	denotes	symptoms
T8420	18031-18038	JJ	denotes	similar
T8421	18039-18041	IN	denotes	to
T8422	18042-18047	DT	denotes	those
T8423	18048-18052	VBN	denotes	seen
T8424	18053-18055	IN	denotes	in
T8425	18056-18061	NN	denotes	SCA15
T8426	18062-18070	NNS	denotes	patients
T8427	18070-18071	:	denotes	;
T8428	18072-18079	RB	denotes	however
T8429	18079-18081	,	denotes	,
T8430	18081-18086	DT	denotes	these
T8431	18087-18091	NNS	denotes	mice
T8409	18092-18095	VBP	denotes	are
T8432	18096-18103	RB	denotes	clearly
T8433	18104-18106	IN	denotes	of
T8434	18107-18115	NN	denotes	interest
T8435	18116-18118	IN	denotes	to
T8436	18119-18121	PRP	denotes	us
T8437	18122-18124	IN	denotes	as
T8438	18125-18126	DT	denotes	a
T8440	18127-18136	JJ	denotes	potential
T8439	18137-18142	NN	denotes	model
T8441	18143-18145	IN	denotes	of
T8442	18146-18151	NN	denotes	SCA15
T8443	18151-18152	.	denotes	.
T8444	18152-18297	sentence	denotes	These data also demonstrate that genome-wide SNP assay can facilitate rapid detection of structural genomic mutations that may underlie disease.
T8445	18153-18158	DT	denotes	These
T8446	18159-18163	NNS	denotes	data
T8448	18164-18168	RB	denotes	also
T8447	18169-18180	VBP	denotes	demonstrate
T8449	18181-18185	IN	denotes	that
T8451	18186-18192	NN	denotes	genome
T8453	18192-18193	HYPH	denotes	-
T8452	18193-18197	JJ	denotes	wide
T8455	18198-18201	NN	denotes	SNP
T8454	18202-18207	NN	denotes	assay
T8456	18208-18211	MD	denotes	can
T8450	18212-18222	VB	denotes	facilitate
T8457	18223-18228	JJ	denotes	rapid
T8458	18229-18238	NN	denotes	detection
T8459	18239-18241	IN	denotes	of
T8460	18242-18252	JJ	denotes	structural
T8462	18253-18260	JJ	denotes	genomic
T8461	18261-18270	NNS	denotes	mutations
T8463	18271-18275	WDT	denotes	that
T8465	18276-18279	MD	denotes	may
T8464	18280-18288	VB	denotes	underlie
T8466	18289-18296	NN	denotes	disease
T8467	18296-18297	.	denotes	.
T8468	18297-18413	sentence	denotes	The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15.
T8469	18298-18301	DT	denotes	The
T8470	18302-18306	NNS	denotes	data
T8472	18307-18315	VBN	denotes	provided
T8473	18316-18318	IN	denotes	by
T8474	18319-18324	DT	denotes	these
T8475	18325-18335	NNS	denotes	approaches
T8471	18336-18343	VBP	denotes	provide
T8476	18344-18354	JJ	denotes	compelling
T8477	18355-18363	NN	denotes	evidence
T8478	18364-18368	IN	denotes	that
T8480	18369-18381	JJ	denotes	heterozygous
T8481	18382-18390	NN	denotes	deletion
T8482	18391-18393	IN	denotes	of
T8483	18394-18399	NN	denotes	ITPR1
T8479	18400-18406	VBZ	denotes	causes
T8484	18407-18412	NN	denotes	SCA15
T8485	18412-18413	.	denotes	.
T8486	18413-18805	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	18414-18421	RB	denotes	Clearly
T8489	18421-18423	,	denotes	,
T8490	18423-18431	NN	denotes	sequence
T8491	18432-18440	NN	denotes	analysis
T8492	18441-18443	IN	denotes	of
T8493	18444-18449	NN	denotes	ITPR1
T8494	18450-18452	IN	denotes	in
T8495	18453-18462	JJ	denotes	potential
T8497	18463-18468	NN	denotes	SCA15
T8496	18469-18474	NNS	denotes	cases
T8498	18475-18478	MD	denotes	may
T8488	18479-18486	VB	denotes	provide
T8500	18487-18497	JJ	denotes	additional
T8501	18498-18505	NN	denotes	insight
T8502	18506-18510	IN	denotes	into
T8503	18511-18514	DT	denotes	the
T8504	18515-18522	NN	denotes	disease
T8505	18522-18524	,	denotes	,
T8506	18524-18536	RB	denotes	particularly
T8508	18537-18539	IN	denotes	if
T8509	18540-18541	DT	denotes	a
T8511	18542-18546	NN	denotes	stop
T8510	18547-18555	NN	denotes	mutation
T8507	18556-18560	VBD	denotes	were
T8512	18561-18563	TO	denotes	to
T8514	18564-18566	VB	denotes	be
T8513	18567-18577	VBN	denotes	identified
T8515	18577-18578	:	denotes	;
T8516	18579-18586	RB	denotes	however
T8517	18586-18588	,	denotes	,
T8518	18588-18591	DT	denotes	the
T8520	18592-18602	JJ	denotes	mutational
T8519	18603-18612	NN	denotes	mechanism
T8521	18613-18618	VBN	denotes	noted
T8522	18619-18623	RB	denotes	here
T8499	18624-18629	VBZ	denotes	means
T8523	18630-18634	IN	denotes	that
T8525	18635-18643	JJ	denotes	standard
T8527	18644-18654	NN	denotes	sequencing
T8526	18655-18665	NNS	denotes	approaches
T8529	18666-18671	RB	denotes	alone
T8528	18672-18675	VBP	denotes	are
T8530	18676-18688	JJ	denotes	insufficient
T8531	18689-18691	TO	denotes	to
T8533	18692-18703	RB	denotes	confidently
T8532	18704-18708	VB	denotes	rule
T8534	18709-18712	RP	denotes	out
T8535	18713-18718	NN	denotes	ITPR1
T8536	18719-18727	NN	denotes	mutation
T8537	18728-18730	IN	denotes	as
T8538	18731-18732	DT	denotes	a
T8539	18733-18738	NN	denotes	cause
T8540	18739-18741	IN	denotes	of
T8541	18742-18749	NN	denotes	disease
T8542	18749-18751	:	denotes	:
T8543	18751-18752	DT	denotes	a
T8545	18753-18766	JJ	denotes	comprehensive
T8546	18767-18771	NN	denotes	gene
T8547	18772-18778	NN	denotes	dosage
T8544	18779-18787	NN	denotes	approach
T8548	18788-18790	VBZ	denotes	is
T8549	18791-18795	RB	denotes	also
T8524	18796-18804	VBN	denotes	required
T8550	18804-18805	.	denotes	.
T8551	18805-19025	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	18806-18811	VBN	denotes	Given
T8554	18812-18816	IN	denotes	that
T8556	18817-18822	NN	denotes	SCA16
T8557	18823-18826	CC	denotes	and
T8558	18827-18836	JJ	denotes	autosomal
T8560	18837-18845	JJ	denotes	dominant
T8561	18846-18856	JJ	denotes	congenital
T8562	18857-18871	JJ	denotes	nonprogressive
T8559	18872-18878	NN	denotes	ataxia
T8563	18879-18883	VBP	denotes	have
T8564	18884-18888	DT	denotes	both
T8565	18889-18897	RB	denotes	recently
T8566	18898-18902	VBN	denotes	been
T8555	18903-18909	VBN	denotes	mapped
T8567	18910-18912	IN	denotes	to
T8568	18913-18920	NNS	denotes	regions
T8569	18921-18932	VBG	denotes	overlapping
T8570	18933-18937	IN	denotes	with
T8571	18938-18941	DT	denotes	the
T8573	18942-18947	NN	denotes	SCA15
T8572	18948-18953	NN	denotes	locus
T8574	18954-18955	-LRB-	denotes	[
T8576	18955-18957	CD	denotes	10
T8577	18957-18958	,	denotes	,
T8575	18958-18960	CD	denotes	11
T8578	18960-18961	-RRB-	denotes	]
T8579	18961-18963	,	denotes	,
T8580	18963-18968	NN	denotes	ITPR1
T8553	18969-18971	VBZ	denotes	is
T8581	18972-18973	DT	denotes	a
T8582	18974-18978	NN	denotes	gene
T8583	18979-18981	IN	denotes	of
T8584	18982-18992	NN	denotes	importance
T8585	18993-18996	IN	denotes	for
T8586	18997-19006	NN	denotes	screening
T8587	19007-19009	IN	denotes	in
T8588	19010-19015	DT	denotes	these
T8589	19016-19024	NNS	denotes	families
T8590	19024-19025	.	denotes	.
T8591	19025-19164	sentence	denotes	These data add weight to a role for aberrant intracellular Ca2+ signaling in Purkinje cells in the pathogenesis of spinocerebellar ataxia.
T8592	19026-19031	DT	denotes	These
T8593	19032-19036	NNS	denotes	data
T8594	19037-19040	VBP	denotes	add
T8595	19041-19047	NN	denotes	weight
T8596	19048-19050	IN	denotes	to
T8597	19051-19052	DT	denotes	a
T8598	19053-19057	NN	denotes	role
T8599	19058-19061	IN	denotes	for
T8600	19062-19070	JJ	denotes	aberrant
T8602	19071-19084	JJ	denotes	intracellular
T8603	19085-19089	NN	denotes	Ca2+
T8601	19090-19099	NN	denotes	signaling
T8604	19100-19102	IN	denotes	in
T8605	19103-19111	NNP	denotes	Purkinje
T8606	19112-19117	NNS	denotes	cells
T8607	19118-19120	IN	denotes	in
T8608	19121-19124	DT	denotes	the
T8609	19125-19137	NN	denotes	pathogenesis
T8610	19138-19140	IN	denotes	of
T8611	19141-19156	JJ	denotes	spinocerebellar
T8612	19157-19163	NN	denotes	ataxia
T8613	19163-19164	.	denotes	.
T8971	19189-19195	NN	denotes	Genome
T8973	19195-19196	HYPH	denotes	-
T8972	19196-19200	JJ	denotes	wide
T8974	19201-19208	NN	denotes	linkage
T8975	19209-19211	IN	denotes	in
T8976	19212-19216	NNS	denotes	mice
T8977	19216-19217	.	denotes	.
T8978	19217-19423	sentence	denotes	One hundred and twenty DNA fragments were amplified across the genome, each selected to contain one or more strain-specific SNPs that would differentiate between C57BL/6J and 129x1/SvJ inbred strains [12].
T8979	19218-19221	CD	denotes	One
T8980	19222-19229	CD	denotes	hundred
T8982	19230-19233	CC	denotes	and
T8983	19234-19240	CD	denotes	twenty
T8984	19241-19244	NN	denotes	DNA
T8981	19245-19254	NNS	denotes	fragments
T8986	19255-19259	VBD	denotes	were
T8985	19260-19269	VBN	denotes	amplified
T8987	19270-19276	IN	denotes	across
T8988	19277-19280	DT	denotes	the
T8989	19281-19287	NN	denotes	genome
T8990	19287-19289	,	denotes	,
T8991	19289-19293	DT	denotes	each
T8992	19294-19302	VBN	denotes	selected
T8993	19303-19305	TO	denotes	to
T8994	19306-19313	VB	denotes	contain
T8995	19314-19317	CD	denotes	one
T8997	19318-19320	CC	denotes	or
T8998	19321-19325	JJR	denotes	more
T8999	19326-19332	NN	denotes	strain
T9001	19332-19333	HYPH	denotes	-
T9000	19333-19341	JJ	denotes	specific
T8996	19342-19346	NNS	denotes	SNPs
T9002	19347-19351	WDT	denotes	that
T9004	19352-19357	MD	denotes	would
T9003	19358-19371	VB	denotes	differentiate
T9005	19372-19379	IN	denotes	between
T9006	19380-19385	NN	denotes	C57BL
T9008	19385-19386	HYPH	denotes	/
T9007	19386-19388	NN	denotes	6J
T9010	19389-19392	CC	denotes	and
T9011	19393-19398	NN	denotes	129x1
T9013	19398-19399	HYPH	denotes	/
T9012	19399-19402	NN	denotes	SvJ
T9014	19403-19409	JJ	denotes	inbred
T9009	19410-19417	NNS	denotes	strains
T9015	19418-19419	-LRB-	denotes	[
T9016	19419-19421	CD	denotes	12
T9017	19421-19422	-RRB-	denotes	]
T9018	19422-19423	.	denotes	.
T9019	19423-19587	sentence	denotes	Each fragment was initially amplified in 11 affected mice and nine unaffected mice; genotype calling was performed by dye-terminator sequencing of these fragments.
T9020	19424-19428	DT	denotes	Each
T9021	19429-19437	NN	denotes	fragment
T9023	19438-19441	VBD	denotes	was
T9024	19442-19451	RB	denotes	initially
T9022	19452-19461	VBN	denotes	amplified
T9026	19462-19464	IN	denotes	in
T9027	19465-19467	CD	denotes	11
T9029	19468-19476	VBN	denotes	affected
T9028	19477-19481	NNS	denotes	mice
T9030	19482-19485	CC	denotes	and
T9031	19486-19490	CD	denotes	nine
T9033	19491-19501	JJ	denotes	unaffected
T9032	19502-19506	NNS	denotes	mice
T9034	19506-19507	:	denotes	;
T9035	19508-19516	NN	denotes	genotype
T9036	19517-19524	NN	denotes	calling
T9037	19525-19528	VBD	denotes	was
T9025	19529-19538	VBN	denotes	performed
T9038	19539-19541	IN	denotes	by
T9039	19542-19545	NN	denotes	dye
T9041	19545-19546	HYPH	denotes	-
T9040	19546-19556	NN	denotes	terminator
T9042	19557-19567	NN	denotes	sequencing
T9043	19568-19570	IN	denotes	of
T9044	19571-19576	DT	denotes	these
T9045	19577-19586	NNS	denotes	fragments
T9046	19586-19587	.	denotes	.
T9047	19587-19788	sentence	denotes	Linkage analysis using these data was performed using mlink [13], which revealed a positive linkage at Chromosome 6qE1, on the 129x1/SvJ background (two-point LOD score 5.13 at marker 20.MMHAP85FLG2).
T9048	19588-19595	NN	denotes	Linkage
T9049	19596-19604	NN	denotes	analysis
T9051	19605-19610	VBG	denotes	using
T9052	19611-19616	DT	denotes	these
T9053	19617-19621	NNS	denotes	data
T9054	19622-19625	VBD	denotes	was
T9050	19626-19635	VBN	denotes	performed
T9055	19636-19641	VBG	denotes	using
T9056	19642-19647	NN	denotes	mlink
T9057	19648-19649	-LRB-	denotes	[
T9058	19649-19651	CD	denotes	13
T9059	19651-19652	-RRB-	denotes	]
T9060	19652-19654	,	denotes	,
T9061	19654-19659	WDT	denotes	which
T9062	19660-19668	VBD	denotes	revealed
T9063	19669-19670	DT	denotes	a
T9065	19671-19679	JJ	denotes	positive
T9064	19680-19687	NN	denotes	linkage
T9066	19688-19690	IN	denotes	at
T9067	19691-19701	NN	denotes	Chromosome
T9068	19702-19706	NN	denotes	6qE1
T9069	19706-19708	,	denotes	,
T9070	19708-19710	IN	denotes	on
T9071	19711-19714	DT	denotes	the
T9073	19715-19720	NN	denotes	129x1
T9075	19720-19721	HYPH	denotes	/
T9074	19721-19724	NN	denotes	SvJ
T9072	19725-19735	NN	denotes	background
T9076	19736-19737	-LRB-	denotes	(
T9078	19737-19740	CD	denotes	two
T9080	19740-19741	HYPH	denotes	-
T9079	19741-19746	NN	denotes	point
T9081	19747-19750	NN	denotes	LOD
T9077	19751-19756	NN	denotes	score
T9082	19757-19761	CD	denotes	5.13
T9083	19762-19764	IN	denotes	at
T9084	19765-19771	NN	denotes	marker
T9085	19772-19786	NN	denotes	20.MMHAP85FLG2
T9086	19786-19787	-RRB-	denotes	)
T9087	19787-19788	.	denotes	.
T9088	19788-19935	sentence	denotes	In an attempt to narrow the disease interval we performed backcross experiments that resulted in the generation of three additional affected mice.
T9089	19789-19791	IN	denotes	In
T9091	19792-19794	DT	denotes	an
T9092	19795-19802	NN	denotes	attempt
T9093	19803-19805	TO	denotes	to
T9094	19806-19812	VB	denotes	narrow
T9095	19813-19816	DT	denotes	the
T9097	19817-19824	NN	denotes	disease
T9096	19825-19833	NN	denotes	interval
T9098	19834-19836	PRP	denotes	we
T9090	19837-19846	VBD	denotes	performed
T9099	19847-19856	NN	denotes	backcross
T9100	19857-19868	NNS	denotes	experiments
T9101	19869-19873	WDT	denotes	that
T9102	19874-19882	VBD	denotes	resulted
T9103	19883-19885	IN	denotes	in
T9104	19886-19889	DT	denotes	the
T9105	19890-19900	NN	denotes	generation
T9106	19901-19903	IN	denotes	of
T9107	19904-19909	CD	denotes	three
T9109	19910-19920	JJ	denotes	additional
T9110	19921-19929	VBN	denotes	affected
T9108	19930-19934	NNS	denotes	mice
T9111	19934-19935	.	denotes	.
T9112	19935-20127	sentence	denotes	Genotyping of all affected mice across the disease-segregating interval revealed flanking recombinants and a candidate region of ~5 Mb, between markers D6Mit37 and 44.MMHAP85FLG5 (Figure S1).
T9113	19936-19946	NN	denotes	Genotyping
T9115	19947-19949	IN	denotes	of
T9116	19950-19953	DT	denotes	all
T9118	19954-19962	VBN	denotes	affected
T9117	19963-19967	NNS	denotes	mice
T9119	19968-19974	IN	denotes	across
T9120	19975-19978	DT	denotes	the
T9122	19979-19986	NN	denotes	disease
T9124	19986-19987	HYPH	denotes	-
T9123	19987-19998	VBG	denotes	segregating
T9121	19999-20007	NN	denotes	interval
T9114	20008-20016	VBD	denotes	revealed
T9125	20017-20025	VBG	denotes	flanking
T9126	20026-20038	NNS	denotes	recombinants
T9127	20039-20042	CC	denotes	and
T9128	20043-20044	DT	denotes	a
T9130	20045-20054	NN	denotes	candidate
T9129	20055-20061	NN	denotes	region
T9131	20062-20064	IN	denotes	of
T9132	20065-20066	SYM	denotes	~
T9133	20066-20067	CD	denotes	5
T9134	20068-20070	NN	denotes	Mb
T9135	20070-20072	,	denotes	,
T9136	20072-20079	IN	denotes	between
T9137	20080-20087	NNS	denotes	markers
T9138	20088-20095	NN	denotes	D6Mit37
T9139	20096-20099	CC	denotes	and
T9140	20100-20114	NN	denotes	44.MMHAP85FLG5
T9141	20115-20116	-LRB-	denotes	(
T9143	20116-20122	NN	denotes	Figure
T9142	20123-20125	NN	denotes	S1
T9144	20125-20126	-RRB-	denotes	)
T9145	20126-20127	.	denotes	.
T9146	20127-20184	sentence	denotes	This region contains 16 genes and predicted transcripts.
T9147	20128-20132	DT	denotes	This
T9148	20133-20139	NN	denotes	region
T9149	20140-20148	VBZ	denotes	contains
T9150	20149-20151	CD	denotes	16
T9151	20152-20157	NNS	denotes	genes
T9152	20158-20161	CC	denotes	and
T9153	20162-20171	VBN	denotes	predicted
T9154	20172-20183	NNS	denotes	transcripts
T9155	20183-20184	.	denotes	.
T9602	20186-20200	NN	denotes	Identification
T9603	20201-20203	IN	denotes	of
T9604	20204-20207	DT	denotes	the
T9606	20208-20218	VBG	denotes	underlying
T9607	20219-20226	JJ	denotes	genetic
T9605	20227-20233	NN	denotes	lesion
T9608	20234-20236	IN	denotes	in
T9609	20237-20241	NNS	denotes	mice
T9610	20241-20242	.	denotes	.
T9611	20242-20353	sentence	denotes	Identification of similar phenotypes in mice linked to the 6qE1 interval was performed by literature searches.
T9612	20243-20257	NN	denotes	Identification
T9614	20258-20260	IN	denotes	of
T9615	20261-20268	JJ	denotes	similar
T9616	20269-20279	NNS	denotes	phenotypes
T9617	20280-20282	IN	denotes	in
T9618	20283-20287	NNS	denotes	mice
T9619	20288-20294	VBN	denotes	linked
T9620	20295-20297	IN	denotes	to
T9621	20298-20301	DT	denotes	the
T9623	20302-20306	NN	denotes	6qE1
T9622	20307-20315	NN	denotes	interval
T9624	20316-20319	VBD	denotes	was
T9613	20320-20329	VBN	denotes	performed
T9625	20330-20332	IN	denotes	by
T9626	20333-20343	NN	denotes	literature
T9627	20344-20352	NNS	denotes	searches
T9628	20352-20353	.	denotes	.
T9629	20353-20479	sentence	denotes	This revealed the Itpr1opt/opt mouse, in which disease is caused by homozygous deletion mutation of exons 43 and 44 of Itpr1.
T9630	20354-20358	DT	denotes	This
T9631	20359-20367	VBD	denotes	revealed
T9632	20368-20371	DT	denotes	the
T9634	20372-20380	NN	denotes	Itpr1opt
T9636	20380-20381	HYPH	denotes	/
T9635	20381-20384	NN	denotes	opt
T9633	20385-20390	NN	denotes	mouse
T9637	20390-20392	,	denotes	,
T9638	20392-20394	IN	denotes	in
T9640	20395-20400	WDT	denotes	which
T9641	20401-20408	NN	denotes	disease
T9642	20409-20411	VBZ	denotes	is
T9639	20412-20418	VBN	denotes	caused
T9643	20419-20421	IN	denotes	by
T9644	20422-20432	JJ	denotes	homozygous
T9646	20433-20441	NN	denotes	deletion
T9645	20442-20450	NN	denotes	mutation
T9647	20451-20453	IN	denotes	of
T9648	20454-20459	NNS	denotes	exons
T9649	20460-20462	CD	denotes	43
T9650	20463-20466	CC	denotes	and
T9651	20467-20469	CD	denotes	44
T9652	20470-20472	IN	denotes	of
T9653	20473-20478	NN	denotes	Itpr1
T9654	20478-20479	.	denotes	.
T9655	20479-20607	sentence	denotes	Primer pairs were designed to sequence each of the coding exons and at least 50 bp of each flanking intronic sequence of Itpr1.
T9656	20480-20486	NN	denotes	Primer
T9657	20487-20492	NNS	denotes	pairs
T9659	20493-20497	VBD	denotes	were
T9658	20498-20506	VBN	denotes	designed
T9660	20507-20509	TO	denotes	to
T9661	20510-20518	VB	denotes	sequence
T9662	20519-20523	DT	denotes	each
T9663	20524-20526	IN	denotes	of
T9664	20527-20530	DT	denotes	the
T9666	20531-20537	NN	denotes	coding
T9665	20538-20543	NNS	denotes	exons
T9667	20544-20547	CC	denotes	and
T9668	20548-20550	RB	denotes	at
T9670	20551-20556	RBS	denotes	least
T9669	20557-20559	CD	denotes	50
T9671	20560-20562	NN	denotes	bp
T9672	20563-20565	IN	denotes	of
T9673	20566-20570	DT	denotes	each
T9675	20571-20579	VBG	denotes	flanking
T9676	20580-20588	JJ	denotes	intronic
T9674	20589-20597	NN	denotes	sequence
T9677	20598-20600	IN	denotes	of
T9678	20601-20606	NN	denotes	Itpr1
T9679	20606-20607	.	denotes	.
T9680	20607-20699	sentence	denotes	PCR amplification of each exon was performed using DNA from two affected mice as templates.
T9681	20608-20611	NN	denotes	PCR
T9682	20612-20625	NN	denotes	amplification
T9684	20626-20628	IN	denotes	of
T9685	20629-20633	DT	denotes	each
T9686	20634-20638	NN	denotes	exon
T9687	20639-20642	VBD	denotes	was
T9683	20643-20652	VBN	denotes	performed
T9688	20653-20658	VBG	denotes	using
T9689	20659-20662	NN	denotes	DNA
T9690	20663-20667	IN	denotes	from
T9691	20668-20671	CD	denotes	two
T9693	20672-20680	VBN	denotes	affected
T9692	20681-20685	NNS	denotes	mice
T9694	20686-20688	IN	denotes	as
T9695	20689-20698	NNS	denotes	templates
T9696	20698-20699	.	denotes	.
T9697	20699-20787	sentence	denotes	The Itpr1Δ18/Δ18 mutation was confirmed by sequencing in all affected mice (Figure S2).
T9698	20700-20703	DT	denotes	The
T9700	20704-20712	NN	denotes	Itpr1Δ18
T9702	20712-20713	HYPH	denotes	/
T9701	20713-20716	NN	denotes	Δ18
T9699	20717-20725	NN	denotes	mutation
T9704	20726-20729	VBD	denotes	was
T9703	20730-20739	VBN	denotes	confirmed
T9705	20740-20742	IN	denotes	by
T9706	20743-20753	NN	denotes	sequencing
T9707	20754-20756	IN	denotes	in
T9708	20757-20760	DT	denotes	all
T9710	20761-20769	VBN	denotes	affected
T9709	20770-20774	NNS	denotes	mice
T9711	20775-20776	-LRB-	denotes	(
T9713	20776-20782	NN	denotes	Figure
T9712	20783-20785	NN	denotes	S2
T9714	20785-20786	-RRB-	denotes	)
T9715	20786-20787	.	denotes	.
T9716	20787-20970	sentence	denotes	Breeding experiments were performed between two female mice heterozygous for the current mutation (Itpr1wt/Δ18) and a male mouse heterozygous for the Itpr1opt mutation (Itpr1wt/opt).
T9717	20788-20796	VBG	denotes	Breeding
T9718	20797-20808	NNS	denotes	experiments
T9720	20809-20813	VBD	denotes	were
T9719	20814-20823	VBN	denotes	performed
T9721	20824-20831	IN	denotes	between
T9722	20832-20835	CD	denotes	two
T9724	20836-20842	JJ	denotes	female
T9723	20843-20847	NNS	denotes	mice
T9725	20848-20860	JJ	denotes	heterozygous
T9726	20861-20864	IN	denotes	for
T9727	20865-20868	DT	denotes	the
T9729	20869-20876	JJ	denotes	current
T9728	20877-20885	NN	denotes	mutation
T9730	20886-20887	-LRB-	denotes	(
T9732	20887-20894	NN	denotes	Itpr1wt
T9733	20894-20895	HYPH	denotes	/
T9731	20895-20898	NN	denotes	Δ18
T9734	20898-20899	-RRB-	denotes	)
T9735	20900-20903	CC	denotes	and
T9736	20904-20905	DT	denotes	a
T9738	20906-20910	JJ	denotes	male
T9737	20911-20916	NN	denotes	mouse
T9739	20917-20929	JJ	denotes	heterozygous
T9740	20930-20933	IN	denotes	for
T9741	20934-20937	DT	denotes	the
T9743	20938-20946	NN	denotes	Itpr1opt
T9742	20947-20955	NN	denotes	mutation
T9744	20956-20957	-LRB-	denotes	(
T9746	20957-20964	NN	denotes	Itpr1wt
T9747	20964-20965	HYPH	denotes	/
T9745	20965-20968	NN	denotes	opt
T9748	20968-20969	-RRB-	denotes	)
T9749	20969-20970	.	denotes	.
T9750	20970-21234	sentence	denotes	This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15; two of seven from first mating; two of eight from the second mating) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice.
T9751	20971-20975	DT	denotes	This
T9752	20976-20984	VBD	denotes	resulted
T9753	20985-20987	IN	denotes	in
T9754	20988-20991	CD	denotes	two
T9755	20992-20999	NNS	denotes	litters
T9756	21000-21002	IN	denotes	of
T9757	21003-21007	NNS	denotes	mice
T9758	21008-21012	IN	denotes	with
T9759	21013-21014	DT	denotes	a
T9760	21015-21020	NN	denotes	total
T9761	21021-21023	IN	denotes	of
T9762	21024-21028	CD	denotes	four
T9764	21029-21037	VBN	denotes	affected
T9765	21038-21046	NN	denotes	Itpr1opt
T9767	21046-21047	HYPH	denotes	/
T9766	21047-21050	NN	denotes	Δ18
T9763	21051-21055	NNS	denotes	pups
T9768	21056-21057	-LRB-	denotes	(
T9770	21057-21061	IN	denotes	from
T9771	21062-21063	DT	denotes	a
T9772	21064-21069	NN	denotes	total
T9773	21070-21072	IN	denotes	of
T9774	21073-21075	CD	denotes	15
T9775	21075-21076	:	denotes	;
T9776	21077-21080	CD	denotes	two
T9778	21081-21083	IN	denotes	of
T9777	21084-21089	CD	denotes	seven
T9779	21090-21094	IN	denotes	from
T9780	21095-21100	JJ	denotes	first
T9781	21101-21107	NN	denotes	mating
T9782	21107-21108	:	denotes	;
T9783	21109-21112	CD	denotes	two
T9784	21113-21115	IN	denotes	of
T9769	21116-21121	CD	denotes	eight
T9785	21122-21126	IN	denotes	from
T9786	21127-21130	DT	denotes	the
T9788	21131-21137	JJ	denotes	second
T9787	21138-21144	NN	denotes	mating
T9789	21144-21145	-RRB-	denotes	)
T9790	21146-21150	IN	denotes	with
T9791	21151-21152	DT	denotes	a
T9792	21153-21162	NN	denotes	phenotype
T9793	21163-21180	JJ	denotes	indistinguishable
T9794	21181-21185	IN	denotes	from
T9795	21186-21190	DT	denotes	that
T9796	21191-21193	IN	denotes	of
T9797	21194-21197	DT	denotes	the
T9799	21198-21206	NN	denotes	Itpr1Δ18
T9801	21206-21207	HYPH	denotes	/
T9800	21207-21210	NN	denotes	Δ18
T9802	21211-21214	CC	denotes	and
T9803	21215-21223	NN	denotes	Itpr1opt
T9805	21224-21225	HYPH	denotes	/
T9804	21225-21228	NN	denotes	opt
T9798	21229-21233	NNS	denotes	mice
T9806	21233-21234	.	denotes	.
T10116	21236-21244	NN	denotes	Analysis
T10117	21245-21247	IN	denotes	of
T10118	21248-21253	NN	denotes	Itpr1
T10119	21254-21261	NN	denotes	protein
T10120	21262-21264	IN	denotes	in
T10121	21265-21269	NNS	denotes	mice
T10122	21269-21270	.	denotes	.
T10123	21270-21392	sentence	denotes	We performed Western blot analyses using standard techniques with ECL detection kits (Amersham, http://www.amersham.com).
T10124	21271-21273	PRP	denotes	We
T10125	21274-21283	VBD	denotes	performed
T10126	21284-21291	NNP	denotes	Western
T10127	21292-21296	NN	denotes	blot
T10128	21297-21305	NNS	denotes	analyses
T10129	21306-21311	VBG	denotes	using
T10130	21312-21320	JJ	denotes	standard
T10131	21321-21331	NNS	denotes	techniques
T10132	21332-21336	IN	denotes	with
T10133	21337-21340	NN	denotes	ECL
T10135	21341-21350	NN	denotes	detection
T10134	21351-21355	NNS	denotes	kits
T10136	21356-21357	-LRB-	denotes	(
T10137	21357-21365	NNP	denotes	Amersham
T10138	21365-21367	,	denotes	,
T10139	21367-21390	NN	denotes	http://www.amersham.com
T10140	21390-21391	-RRB-	denotes	)
T10141	21391-21392	.	denotes	.
T10142	21392-21658	sentence	denotes	Briefly, dissected whole brains from postnatal day 21 littermates were homogenized in a buffer containing 50 mM Tris-HCl, 150 mM NaCl, 1 mM EDTA, 1% Triton X-100, 1% sodium deoxycholate, 0.1% SDS, and a cocktail of protease inhibitors (Roche, http://www.roche.com).
T10143	21393-21400	RB	denotes	Briefly
T10145	21400-21402	,	denotes	,
T10146	21402-21411	VBN	denotes	dissected
T10148	21412-21417	JJ	denotes	whole
T10147	21418-21424	NNS	denotes	brains
T10149	21425-21429	IN	denotes	from
T10150	21430-21439	JJ	denotes	postnatal
T10151	21440-21443	NN	denotes	day
T10153	21444-21446	CD	denotes	21
T10152	21447-21458	NNS	denotes	littermates
T10154	21459-21463	VBD	denotes	were
T10144	21464-21475	VBN	denotes	homogenized
T10155	21476-21478	IN	denotes	in
T10156	21479-21480	DT	denotes	a
T10157	21481-21487	NN	denotes	buffer
T10158	21488-21498	VBG	denotes	containing
T10159	21499-21501	CD	denotes	50
T10160	21502-21504	NN	denotes	mM
T10162	21505-21509	NN	denotes	Tris
T10163	21509-21510	HYPH	denotes	-
T10161	21510-21513	NN	denotes	HCl
T10164	21513-21515	,	denotes	,
T10165	21515-21518	CD	denotes	150
T10166	21519-21521	NN	denotes	mM
T10167	21522-21526	NN	denotes	NaCl
T10168	21526-21528	,	denotes	,
T10169	21528-21529	CD	denotes	1
T10170	21530-21532	NN	denotes	mM
T10171	21533-21537	NN	denotes	EDTA
T10172	21537-21539	,	denotes	,
T10173	21539-21540	CD	denotes	1
T10174	21540-21541	NN	denotes	%
T10176	21542-21548	NN	denotes	Triton
T10175	21549-21550	NN	denotes	X
T10177	21550-21551	HYPH	denotes	-
T10178	21551-21554	CD	denotes	100
T10179	21554-21556	,	denotes	,
T10180	21556-21557	CD	denotes	1
T10181	21557-21558	NN	denotes	%
T10183	21559-21565	NN	denotes	sodium
T10182	21566-21578	NN	denotes	deoxycholate
T10184	21578-21580	,	denotes	,
T10185	21580-21583	CD	denotes	0.1
T10186	21583-21584	NN	denotes	%
T10187	21585-21588	NN	denotes	SDS
T10188	21588-21590	,	denotes	,
T10189	21590-21593	CC	denotes	and
T10190	21594-21595	DT	denotes	a
T10191	21596-21604	NN	denotes	cocktail
T10192	21605-21607	IN	denotes	of
T10193	21608-21616	NN	denotes	protease
T10194	21617-21627	NNS	denotes	inhibitors
T10195	21628-21629	-LRB-	denotes	(
T10196	21629-21634	NNP	denotes	Roche
T10197	21634-21636	,	denotes	,
T10198	21636-21656	NN	denotes	http://www.roche.com
T10199	21656-21657	-RRB-	denotes	)
T10200	21657-21658	.	denotes	.
T10201	21658-21849	sentence	denotes	Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (Novex, http://www.invitrogen.com) for SDS-PAGE and immunoblotting.
T10202	21659-21670	NNS	denotes	Homogenates
T10204	21671-21675	VBD	denotes	were
T10203	21676-21683	VBN	denotes	diluted
T10205	21684-21697	RB	denotes	appropriately
T10206	21697-21699	,	denotes	,
T10207	21699-21704	VBN	denotes	mixed
T10208	21705-21709	IN	denotes	with
T10209	21710-21711	CD	denotes	4
T10211	21711-21712	SYM	denotes	×
T10212	21713-21721	VBG	denotes	reducing
T10213	21722-21728	NN	denotes	sample
T10210	21729-21735	NN	denotes	buffer
T10214	21735-21737	,	denotes	,
T10215	21737-21740	CC	denotes	and
T10216	21741-21747	VBN	denotes	loaded
T10217	21748-21752	IN	denotes	onto
T10218	21753-21754	CD	denotes	4
T10219	21754-21755	NN	denotes	%
T10221	21755-21756	SYM	denotes	–
T10223	21756-21758	CD	denotes	12
T10222	21758-21759	NN	denotes	%
T10224	21760-21767	NN	denotes	precast
T10225	21768-21776	NN	denotes	gradient
T10220	21777-21781	NNS	denotes	gels
T10226	21782-21783	-LRB-	denotes	(
T10227	21783-21788	NNP	denotes	Novex
T10228	21788-21790	,	denotes	,
T10229	21790-21815	NN	denotes	http://www.invitrogen.com
T10230	21815-21816	-RRB-	denotes	)
T10231	21817-21820	IN	denotes	for
T10232	21821-21824	NN	denotes	SDS
T10234	21824-21825	HYPH	denotes	-
T10233	21825-21829	NN	denotes	PAGE
T10235	21830-21833	CC	denotes	and
T10236	21834-21848	NN	denotes	immunoblotting
T10237	21848-21849	.	denotes	.
T10238	21849-21945	sentence	denotes	The antibodies to Itpr1 (1:2,000) and Actb (1:5,000) were used as recommended by manufacturers.
T10239	21850-21853	DT	denotes	The
T10240	21854-21864	NNS	denotes	antibodies
T10242	21865-21867	IN	denotes	to
T10243	21868-21873	NN	denotes	Itpr1
T10244	21874-21875	-LRB-	denotes	(
T10245	21875-21876	CD	denotes	1
T10246	21876-21877	SYM	denotes	:
T10247	21877-21882	CD	denotes	2,000
T10248	21882-21883	-RRB-	denotes	)
T10249	21884-21887	CC	denotes	and
T10250	21888-21892	NN	denotes	Actb
T10251	21893-21894	-LRB-	denotes	(
T10252	21894-21895	CD	denotes	1
T10253	21895-21896	SYM	denotes	:
T10254	21896-21901	CD	denotes	5,000
T10255	21901-21902	-RRB-	denotes	)
T10256	21903-21907	VBD	denotes	were
T10241	21908-21912	VBN	denotes	used
T10257	21913-21915	IN	denotes	as
T10258	21916-21927	VBN	denotes	recommended
T10259	21928-21930	IN	denotes	by
T10260	21931-21944	NNS	denotes	manufacturers
T10261	21944-21945	.	denotes	.
T10935	21947-21967	NN	denotes	Immunohistochemistry
T10936	21967-21968	.	denotes	.
T10937	21968-22098	sentence	denotes	Brains were isolated from 21-d-old mice, perfused with 4% paraformaldehyde in PBS, and post-fixed overnight in the same fixative.
T10938	21969-21975	NNS	denotes	Brains
T10940	21976-21980	VBD	denotes	were
T10939	21981-21989	VBN	denotes	isolated
T10941	21990-21994	IN	denotes	from
T10942	21995-21997	CD	denotes	21
T10944	21997-21998	HYPH	denotes	-
T10943	21998-21999	NN	denotes	d
T10946	21999-22000	HYPH	denotes	-
T10945	22000-22003	JJ	denotes	old
T10947	22004-22008	NNS	denotes	mice
T10948	22008-22010	,	denotes	,
T10949	22010-22018	VBN	denotes	perfused
T10950	22019-22023	IN	denotes	with
T10951	22024-22025	CD	denotes	4
T10952	22025-22026	NN	denotes	%
T10953	22027-22043	NN	denotes	paraformaldehyde
T10954	22044-22046	IN	denotes	in
T10955	22047-22050	NN	denotes	PBS
T10956	22050-22052	,	denotes	,
T10957	22052-22055	CC	denotes	and
T10958	22056-22066	VBN	denotes	post-fixed
T10959	22067-22076	RB	denotes	overnight
T10960	22077-22079	IN	denotes	in
T10961	22080-22083	DT	denotes	the
T10963	22084-22088	JJ	denotes	same
T10962	22089-22097	NN	denotes	fixative
T10964	22097-22098	.	denotes	.
T10965	22098-22260	sentence	denotes	Brains were embedded in gelatin, and 35-μm sagittal sections were cut using a sliding microtome (NeuroScience Associates, http://www.neuroscienceassociates.com).
T10966	22099-22105	NNS	denotes	Brains
T10968	22106-22110	VBD	denotes	were
T10967	22111-22119	VBN	denotes	embedded
T10969	22120-22122	IN	denotes	in
T10970	22123-22130	NN	denotes	gelatin
T10971	22130-22132	,	denotes	,
T10972	22132-22135	CC	denotes	and
T10973	22136-22138	CD	denotes	35
T10975	22138-22139	HYPH	denotes	-
T10974	22139-22141	NN	denotes	μm
T10977	22142-22150	JJ	denotes	sagittal
T10976	22151-22159	NNS	denotes	sections
T10979	22160-22164	VBD	denotes	were
T10978	22165-22168	VBN	denotes	cut
T10980	22169-22174	VBG	denotes	using
T10981	22175-22176	DT	denotes	a
T10983	22177-22184	VBG	denotes	sliding
T10982	22185-22194	NN	denotes	microtome
T10984	22195-22196	-LRB-	denotes	(
T10986	22196-22208	NNP	denotes	NeuroScience
T10985	22209-22219	NNP	denotes	Associates
T10987	22219-22221	,	denotes	,
T10988	22221-22258	NN	denotes	http://www.neuroscienceassociates.com
T10989	22258-22259	-RRB-	denotes	)
T10990	22259-22260	.	denotes	.
T10991	22260-22361	sentence	denotes	Sections from wild-type, heterozygote, and homozygous brains were placed in the MultiBrain template.
T10992	22261-22269	NNS	denotes	Sections
T10994	22270-22274	IN	denotes	from
T10995	22275-22279	JJ	denotes	wild
T10997	22279-22280	HYPH	denotes	-
T10996	22280-22284	NN	denotes	type
T10999	22284-22286	,	denotes	,
T11000	22286-22298	NN	denotes	heterozygote
T11001	22298-22300	,	denotes	,
T11002	22300-22303	CC	denotes	and
T11003	22304-22314	JJ	denotes	homozygous
T10998	22315-22321	NNS	denotes	brains
T11004	22322-22326	VBD	denotes	were
T10993	22327-22333	VBN	denotes	placed
T11005	22334-22336	IN	denotes	in
T11006	22337-22340	DT	denotes	the
T11008	22341-22351	NN	denotes	MultiBrain
T11007	22352-22360	NN	denotes	template
T11009	22360-22361	.	denotes	.
T11010	22361-22514	sentence	denotes	Sections were washed in 1× PBS prior to 1 h of incubation in block solution containing 1× PBS with 20% normal goat serum and 0.3% Triton X-100 (pH 7.4).
T11011	22362-22370	NNS	denotes	Sections
T11013	22371-22375	VBD	denotes	were
T11012	22376-22382	VBN	denotes	washed
T11014	22383-22385	IN	denotes	in
T11015	22386-22387	CD	denotes	1
T11017	22387-22388	SYM	denotes	×
T11016	22389-22392	NN	denotes	PBS
T11018	22393-22398	RB	denotes	prior
T11019	22399-22401	IN	denotes	to
T11020	22402-22403	CD	denotes	1
T11021	22404-22405	NN	denotes	h
T11022	22406-22408	IN	denotes	of
T11023	22409-22419	NN	denotes	incubation
T11024	22420-22422	IN	denotes	in
T11025	22423-22428	NN	denotes	block
T11026	22429-22437	NN	denotes	solution
T11027	22438-22448	VBG	denotes	containing
T11028	22449-22450	CD	denotes	1
T11030	22450-22451	SYM	denotes	×
T11029	22452-22455	NN	denotes	PBS
T11031	22456-22460	IN	denotes	with
T11032	22461-22463	CD	denotes	20
T11033	22463-22464	NN	denotes	%
T11035	22465-22471	JJ	denotes	normal
T11036	22472-22476	NN	denotes	goat
T11034	22477-22482	NN	denotes	serum
T11037	22483-22486	CC	denotes	and
T11038	22487-22490	CD	denotes	0.3
T11039	22490-22491	NN	denotes	%
T11041	22492-22498	NN	denotes	Triton
T11040	22499-22500	NN	denotes	X
T11042	22500-22501	HYPH	denotes	-
T11043	22501-22504	CD	denotes	100
T11044	22505-22506	-LRB-	denotes	(
T11045	22506-22508	NN	denotes	pH
T11046	22509-22512	CD	denotes	7.4
T11047	22512-22513	-RRB-	denotes	)
T11048	22513-22514	.	denotes	.
T11049	22514-22800	sentence	denotes	Sections were incubated overnight at 4 °C in primary antibodies: affinity purified polyclonal Itpr1 antibody (1:2,000, Chemicon International, http://www.chemicon.com) and monoclonal anti-Calb1 antibody (1:6,000, Sigma-Aldrich, http://www.sigmaaldrich.com) diluted in carrier solution.
T11050	22515-22523	NNS	denotes	Sections
T11052	22524-22528	VBD	denotes	were
T11051	22529-22538	VBN	denotes	incubated
T11053	22539-22548	RB	denotes	overnight
T11054	22549-22551	IN	denotes	at
T11055	22552-22553	CD	denotes	4
T11056	22554-22556	NN	denotes	°C
T11057	22557-22559	IN	denotes	in
T11058	22560-22567	JJ	denotes	primary
T11059	22568-22578	NNS	denotes	antibodies
T11060	22578-22580	:	denotes	:
T11061	22580-22588	NN	denotes	affinity
T11063	22589-22597	VBN	denotes	purified
T11064	22598-22608	JJ	denotes	polyclonal
T11065	22609-22614	NN	denotes	Itpr1
T11062	22615-22623	NN	denotes	antibody
T11066	22624-22625	-LRB-	denotes	(
T11068	22625-22626	CD	denotes	1
T11069	22626-22627	SYM	denotes	:
T11070	22627-22632	CD	denotes	2,000
T11071	22632-22634	,	denotes	,
T11072	22634-22642	NNP	denotes	Chemicon
T11067	22643-22656	NNP	denotes	International
T11073	22656-22658	,	denotes	,
T11074	22658-22681	NN	denotes	http://www.chemicon.com
T11075	22681-22682	-RRB-	denotes	)
T11076	22683-22686	CC	denotes	and
T11077	22687-22697	JJ	denotes	monoclonal
T11079	22698-22708	JJ	denotes	anti-Calb1
T11078	22709-22717	NN	denotes	antibody
T11080	22718-22719	-LRB-	denotes	(
T11082	22719-22720	CD	denotes	1
T11083	22720-22721	SYM	denotes	:
T11084	22721-22726	CD	denotes	6,000
T11085	22726-22728	,	denotes	,
T11086	22728-22733	NNP	denotes	Sigma
T11087	22733-22734	HYPH	denotes	-
T11081	22734-22741	NNP	denotes	Aldrich
T11088	22741-22743	,	denotes	,
T11089	22743-22770	NN	denotes	http://www.sigmaaldrich.com
T11090	22770-22771	-RRB-	denotes	)
T11091	22772-22779	VBN	denotes	diluted
T11092	22780-22782	IN	denotes	in
T11093	22783-22790	NN	denotes	carrier
T11094	22791-22799	NN	denotes	solution
T11095	22799-22800	.	denotes	.
T11096	22800-23070	sentence	denotes	Following extensive washes (in 6.0 ml of PBS, three times), sections were incubated with appropriate secondary antibodies (Alexa Fluor 555 goat anti-rabbit IgG and Alexa Fluor 488 goat anti-mouse IgG [Invitrogen, http://www.invitrogen.com]) for 1 h at room temperature.
T11097	22801-22810	VBG	denotes	Following
T11099	22811-22820	JJ	denotes	extensive
T11100	22821-22827	NNS	denotes	washes
T11101	22828-22829	-LRB-	denotes	(
T11102	22829-22831	IN	denotes	in
T11103	22832-22835	CD	denotes	6.0
T11104	22836-22838	NN	denotes	ml
T11105	22839-22841	IN	denotes	of
T11106	22842-22845	NN	denotes	PBS
T11107	22845-22847	,	denotes	,
T11109	22847-22852	CD	denotes	three
T11108	22853-22858	NNS	denotes	times
T11110	22858-22859	-RRB-	denotes	)
T11111	22859-22861	,	denotes	,
T11112	22861-22869	NNS	denotes	sections
T11113	22870-22874	VBD	denotes	were
T11098	22875-22884	VBN	denotes	incubated
T11114	22885-22889	IN	denotes	with
T11115	22890-22901	JJ	denotes	appropriate
T11117	22902-22911	JJ	denotes	secondary
T11116	22912-22922	NNS	denotes	antibodies
T11118	22923-22924	-LRB-	denotes	(
T11120	22924-22929	NNP	denotes	Alexa
T11121	22930-22935	NNP	denotes	Fluor
T11122	22936-22939	CD	denotes	555
T11123	22940-22944	NN	denotes	goat
T11124	22945-22956	JJ	denotes	anti-rabbit
T11119	22957-22960	NN	denotes	IgG
T11125	22961-22964	CC	denotes	and
T11126	22965-22970	NNP	denotes	Alexa
T11127	22971-22976	NNP	denotes	Fluor
T11129	22977-22980	CD	denotes	488
T11130	22981-22985	NN	denotes	goat
T11131	22986-22996	JJ	denotes	anti-mouse
T11128	22997-23000	NN	denotes	IgG
T11132	23001-23002	-LRB-	denotes	[
T11133	23002-23012	NNP	denotes	Invitrogen
T11134	23012-23014	,	denotes	,
T11135	23014-23039	NN	denotes	http://www.invitrogen.com
T11136	23039-23040	-RRB-	denotes	]
T11137	23040-23041	-RRB-	denotes	)
T11138	23042-23045	IN	denotes	for
T11139	23046-23047	CD	denotes	1
T11140	23048-23049	NN	denotes	h
T11141	23050-23052	IN	denotes	at
T11142	23053-23057	NN	denotes	room
T11143	23058-23069	NN	denotes	temperature
T11144	23069-23070	.	denotes	.
T11145	23070-23229	sentence	denotes	Sections were washed and mounted on glass slides in a buffered medium containing Mowiol (Calbiochem, http://www.emdbiosciences.com) as described earlier [14].
T11146	23071-23079	NNS	denotes	Sections
T11148	23080-23084	VBD	denotes	were
T11147	23085-23091	VBN	denotes	washed
T11149	23092-23095	CC	denotes	and
T11150	23096-23103	VBN	denotes	mounted
T11151	23104-23106	IN	denotes	on
T11152	23107-23112	NN	denotes	glass
T11153	23113-23119	NNS	denotes	slides
T11154	23120-23122	IN	denotes	in
T11155	23123-23124	DT	denotes	a
T11157	23125-23133	VBN	denotes	buffered
T11156	23134-23140	NN	denotes	medium
T11158	23141-23151	VBG	denotes	containing
T11159	23152-23158	NN	denotes	Mowiol
T11160	23159-23160	-LRB-	denotes	(
T11161	23160-23170	NNP	denotes	Calbiochem
T11162	23170-23172	,	denotes	,
T11163	23172-23201	NN	denotes	http://www.emdbiosciences.com
T11164	23201-23202	-RRB-	denotes	)
T11165	23203-23205	IN	denotes	as
T11166	23206-23215	VBN	denotes	described
T11167	23216-23223	RBR	denotes	earlier
T11168	23224-23225	-LRB-	denotes	[
T11169	23225-23227	CD	denotes	14
T11170	23227-23228	-RRB-	denotes	]
T11171	23228-23229	.	denotes	.
T11172	23229-23333	sentence	denotes	Sections were imaged using a laser scanning confocal microscope (LSM 510; Zeiss, http://www.zeiss.com).
T11173	23230-23238	NNS	denotes	Sections
T11175	23239-23243	VBD	denotes	were
T11174	23244-23250	VBN	denotes	imaged
T11176	23251-23256	VBG	denotes	using
T11177	23257-23258	DT	denotes	a
T11179	23259-23264	NN	denotes	laser
T11180	23265-23273	VBG	denotes	scanning
T11181	23274-23282	JJ	denotes	confocal
T11178	23283-23293	NN	denotes	microscope
T11182	23294-23295	-LRB-	denotes	(
T11184	23295-23298	NN	denotes	LSM
T11185	23299-23302	CD	denotes	510
T11186	23302-23303	:	denotes	;
T11183	23304-23309	NNP	denotes	Zeiss
T11187	23309-23311	,	denotes	,
T11188	23311-23331	NN	denotes	http://www.zeiss.com
T11189	23331-23332	-RRB-	denotes	)
T11190	23332-23333	.	denotes	.
T11191	23333-23492	sentence	denotes	Imaging parameters (pinhole, detector gain, laser power) were optimized, and were kept constant for the wild-type, heterozygous, and homozygous mutant brains.
T11192	23334-23341	NN	denotes	Imaging
T11193	23342-23352	NNS	denotes	parameters
T11195	23353-23354	-LRB-	denotes	(
T11196	23354-23361	NN	denotes	pinhole
T11197	23361-23363	,	denotes	,
T11198	23363-23371	NN	denotes	detector
T11199	23372-23376	NN	denotes	gain
T11200	23376-23378	,	denotes	,
T11201	23378-23383	NN	denotes	laser
T11202	23384-23389	NN	denotes	power
T11203	23389-23390	-RRB-	denotes	)
T11204	23391-23395	VBD	denotes	were
T11194	23396-23405	VBN	denotes	optimized
T11205	23405-23407	,	denotes	,
T11206	23407-23410	CC	denotes	and
T11207	23411-23415	VBD	denotes	were
T11208	23416-23420	VBN	denotes	kept
T11209	23421-23429	JJ	denotes	constant
T11210	23430-23433	IN	denotes	for
T11211	23434-23437	DT	denotes	the
T11213	23438-23442	JJ	denotes	wild
T11215	23442-23443	HYPH	denotes	-
T11214	23443-23447	NN	denotes	type
T11216	23447-23449	,	denotes	,
T11217	23449-23461	JJ	denotes	heterozygous
T11218	23461-23463	,	denotes	,
T11219	23463-23466	CC	denotes	and
T11220	23467-23477	JJ	denotes	homozygous
T11221	23478-23484	NN	denotes	mutant
T11212	23485-23491	NNS	denotes	brains
T11222	23491-23492	.	denotes	.
T11223	23492-23579	sentence	denotes	Specificity of the Itpr1 antibodies was verified by preabsorption control experiments.
T11224	23493-23504	NN	denotes	Specificity
T11226	23505-23507	IN	denotes	of
T11227	23508-23511	DT	denotes	the
T11229	23512-23517	NN	denotes	Itpr1
T11228	23518-23528	NNS	denotes	antibodies
T11230	23529-23532	VBD	denotes	was
T11225	23533-23541	VBN	denotes	verified
T11231	23542-23544	IN	denotes	by
T11232	23545-23558	NN	denotes	preabsorption
T11234	23559-23566	NN	denotes	control
T11233	23567-23578	NNS	denotes	experiments
T11235	23578-23579	.	denotes	.
T11236	23579-23659	sentence	denotes	Antibody dilutions were incubated for 24 h at 4 °C with the immunizing peptide.
T11237	23580-23588	NN	denotes	Antibody
T11238	23589-23598	NNS	denotes	dilutions
T11240	23599-23603	VBD	denotes	were
T11239	23604-23613	VBN	denotes	incubated
T11241	23614-23617	IN	denotes	for
T11242	23618-23620	CD	denotes	24
T11243	23621-23622	NN	denotes	h
T11244	23623-23625	IN	denotes	at
T11245	23626-23627	CD	denotes	4
T11246	23628-23630	NN	denotes	°C
T11247	23631-23635	IN	denotes	with
T11248	23636-23639	DT	denotes	the
T11250	23640-23650	VBG	denotes	immunizing
T11249	23651-23658	NN	denotes	peptide
T11251	23658-23659	.	denotes	.
T11252	23659-23756	sentence	denotes	Tissue sections were incubated with the preabsorbed antibodies and processed as described above.
T11253	23660-23666	NN	denotes	Tissue
T11254	23667-23675	NNS	denotes	sections
T11256	23676-23680	VBD	denotes	were
T11255	23681-23690	VBN	denotes	incubated
T11257	23691-23695	IN	denotes	with
T11258	23696-23699	DT	denotes	the
T11260	23700-23711	VBN	denotes	preabsorbed
T11259	23712-23722	NNS	denotes	antibodies
T11261	23723-23726	CC	denotes	and
T11262	23727-23736	VBN	denotes	processed
T11263	23737-23739	IN	denotes	as
T11264	23740-23749	VBN	denotes	described
T11265	23750-23755	RB	denotes	above
T11266	23755-23756	.	denotes	.
T11267	23756-23829	sentence	denotes	Under these conditions, no staining above autofluorescence was detected.
T11268	23757-23762	IN	denotes	Under
T11270	23763-23768	DT	denotes	these
T11271	23769-23779	NNS	denotes	conditions
T11272	23779-23781	,	denotes	,
T11273	23781-23783	DT	denotes	no
T11274	23784-23792	NN	denotes	staining
T11275	23793-23798	IN	denotes	above
T11276	23799-23815	NN	denotes	autofluorescence
T11277	23816-23819	VBD	denotes	was
T11269	23820-23828	VBN	denotes	detected
T11278	23828-23829	.	denotes	.
T12755	23831-23839	NN	denotes	Analysis
T12756	23840-23842	IN	denotes	of
T12757	23843-23848	NN	denotes	ITPR1
T12758	23849-23851	IN	denotes	in
T12759	23852-23857	NN	denotes	SCA15
T12760	23858-23866	NNS	denotes	patients
T12761	23866-23867	.	denotes	.
T12762	23867-23949	sentence	denotes	DNA was extracted from EBV immortalized lymphocytes, derived from family members.
T12763	23868-23871	NN	denotes	DNA
T12765	23872-23875	VBD	denotes	was
T12764	23876-23885	VBN	denotes	extracted
T12766	23886-23890	IN	denotes	from
T12767	23891-23894	NN	denotes	EBV
T12769	23895-23907	VBN	denotes	immortalized
T12768	23908-23919	NNS	denotes	lymphocytes
T12770	23919-23921	,	denotes	,
T12771	23921-23928	VBN	denotes	derived
T12772	23929-23933	IN	denotes	from
T12773	23934-23940	NN	denotes	family
T12774	23941-23948	NNS	denotes	members
T12775	23948-23949	.	denotes	.
T12776	23949-24155	sentence	denotes	The coding exons and at least 50 bp of flanking introns of ITPR1 were PCR amplified and sequenced using dye-terminator sequencing (BigDye version 3.1; Applied Biosystems, http://www.appliedbiosystems.com).
T12777	23950-23953	DT	denotes	The
T12779	23954-23960	VBG	denotes	coding
T12778	23961-23966	NNS	denotes	exons
T12781	23967-23970	CC	denotes	and
T12782	23971-23973	RB	denotes	at
T12784	23974-23979	RBS	denotes	least
T12783	23980-23982	CD	denotes	50
T12785	23983-23985	NN	denotes	bp
T12786	23986-23988	IN	denotes	of
T12787	23989-23997	VBG	denotes	flanking
T12788	23998-24005	NNS	denotes	introns
T12789	24006-24008	IN	denotes	of
T12790	24009-24014	NN	denotes	ITPR1
T12791	24015-24019	VBD	denotes	were
T12792	24020-24023	NN	denotes	PCR
T12780	24024-24033	VBN	denotes	amplified
T12793	24034-24037	CC	denotes	and
T12794	24038-24047	VBN	denotes	sequenced
T12795	24048-24053	VBG	denotes	using
T12796	24054-24057	NN	denotes	dye
T12798	24057-24058	HYPH	denotes	-
T12797	24058-24068	NN	denotes	terminator
T12799	24069-24079	NN	denotes	sequencing
T12800	24080-24081	-LRB-	denotes	(
T12802	24081-24087	NNP	denotes	BigDye
T12803	24088-24095	NN	denotes	version
T12804	24096-24099	CD	denotes	3.1
T12805	24099-24100	:	denotes	;
T12806	24101-24108	NNP	denotes	Applied
T12801	24109-24119	NNP	denotes	Biosystems
T12807	24119-24121	,	denotes	,
T12808	24121-24153	NN	denotes	http://www.appliedbiosystems.com
T12809	24153-24154	-RRB-	denotes	)
T12810	24154-24155	.	denotes	.
T12811	24155-24280	sentence	denotes	Sequence reactions were run on an ABI3730XP automated sequencer as per the manufacturer's instructions (Applied Biosystems).
T12812	24156-24164	NN	denotes	Sequence
T12813	24165-24174	NNS	denotes	reactions
T12815	24175-24179	VBD	denotes	were
T12814	24180-24183	VBN	denotes	run
T12816	24184-24186	IN	denotes	on
T12817	24187-24189	DT	denotes	an
T12819	24190-24199	NN	denotes	ABI3730XP
T12820	24200-24209	VBN	denotes	automated
T12818	24210-24219	NN	denotes	sequencer
T12821	24220-24222	IN	denotes	as
T12822	24223-24226	IN	denotes	per
T12823	24227-24230	DT	denotes	the
T12824	24231-24243	NN	denotes	manufacturer
T12826	24243-24245	POS	denotes	's
T12825	24246-24258	NNS	denotes	instructions
T12827	24259-24260	-LRB-	denotes	(
T12829	24260-24267	NNP	denotes	Applied
T12828	24268-24278	NNP	denotes	Biosystems
T12830	24278-24279	-RRB-	denotes	)
T12831	24279-24280	.	denotes	.
T12832	24280-24404	sentence	denotes	This analysis was performed in all three affected family members for whom genomic DNA was available (members 6, 7, and 19).
T12833	24281-24285	DT	denotes	This
T12834	24286-24294	NN	denotes	analysis
T12836	24295-24298	VBD	denotes	was
T12835	24299-24308	VBN	denotes	performed
T12837	24309-24311	IN	denotes	in
T12838	24312-24315	DT	denotes	all
T12840	24316-24321	CD	denotes	three
T12841	24322-24330	VBN	denotes	affected
T12842	24331-24337	NN	denotes	family
T12839	24338-24345	NNS	denotes	members
T12843	24346-24349	IN	denotes	for
T12845	24350-24354	WP	denotes	whom
T12846	24355-24362	JJ	denotes	genomic
T12847	24363-24366	NN	denotes	DNA
T12844	24367-24370	VBD	denotes	was
T12848	24371-24380	JJ	denotes	available
T12849	24381-24382	-LRB-	denotes	(
T12851	24382-24389	NNS	denotes	members
T12850	24390-24391	CD	denotes	6
T12852	24391-24393	,	denotes	,
T12853	24393-24394	CD	denotes	7
T12854	24394-24396	,	denotes	,
T12855	24396-24399	CC	denotes	and
T12856	24400-24402	CD	denotes	19
T12857	24402-24403	-RRB-	denotes	)
T12858	24403-24404	.	denotes	.
T12859	24404-24464	sentence	denotes	Primer sequences and conditions are available upon request.
T12860	24405-24411	NN	denotes	Primer
T12861	24412-24421	NNS	denotes	sequences
T12863	24422-24425	CC	denotes	and
T12864	24426-24436	NNS	denotes	conditions
T12862	24437-24440	VBP	denotes	are
T12865	24441-24450	JJ	denotes	available
T12866	24451-24455	IN	denotes	upon
T12867	24456-24463	NN	denotes	request
T12868	24463-24464	.	denotes	.
T12869	24464-24561	sentence	denotes	Sequence data were analyzed using Sequencher (Gene Codes Corporation, http://www.genecodes.com).
T12870	24465-24473	NN	denotes	Sequence
T12871	24474-24478	NNS	denotes	data
T12873	24479-24483	VBD	denotes	were
T12872	24484-24492	VBN	denotes	analyzed
T12874	24493-24498	VBG	denotes	using
T12875	24499-24509	NNP	denotes	Sequencher
T12876	24510-24511	-LRB-	denotes	(
T12878	24511-24515	NNP	denotes	Gene
T12879	24516-24521	NNPS	denotes	Codes
T12877	24522-24533	NNP	denotes	Corporation
T12880	24533-24535	,	denotes	,
T12881	24535-24559	NN	denotes	http://www.genecodes.com
T12882	24559-24560	-RRB-	denotes	)
T12883	24560-24561	.	denotes	.
T12884	24561-24722	sentence	denotes	Genome-wide SNP genotyping was performed using Infinium HumanHap550 SNP genotyping chips as per the manufacturer's protocol (Illumina, http://www.illumina.com).
T12885	24562-24568	NN	denotes	Genome
T12887	24568-24569	HYPH	denotes	-
T12886	24569-24573	JJ	denotes	wide
T12889	24574-24577	NN	denotes	SNP
T12888	24578-24588	NN	denotes	genotyping
T12891	24589-24592	VBD	denotes	was
T12890	24593-24602	VBN	denotes	performed
T12892	24603-24608	VBG	denotes	using
T12893	24609-24617	NNP	denotes	Infinium
T12895	24618-24629	NN	denotes	HumanHap550
T12894	24630-24633	NN	denotes	SNP
T12897	24634-24644	NN	denotes	genotyping
T12896	24645-24650	NNS	denotes	chips
T12898	24651-24653	IN	denotes	as
T12899	24654-24657	IN	denotes	per
T12900	24658-24661	DT	denotes	the
T12901	24662-24674	NN	denotes	manufacturer
T12903	24674-24676	POS	denotes	's
T12902	24677-24685	NN	denotes	protocol
T12904	24686-24687	-LRB-	denotes	(
T12905	24687-24695	NNP	denotes	Illumina
T12906	24695-24697	,	denotes	,
T12907	24697-24720	NN	denotes	http://www.illumina.com
T12908	24720-24721	-RRB-	denotes	)
T12909	24721-24722	.	denotes	.
T12910	24722-24763	sentence	denotes	This product assays 555,352 unique SNPs.
T12911	24723-24727	DT	denotes	This
T12912	24728-24735	NN	denotes	product
T12913	24736-24742	VBZ	denotes	assays
T12914	24743-24750	CD	denotes	555,352
T12916	24751-24757	JJ	denotes	unique
T12915	24758-24762	NNS	denotes	SNPs
T12917	24762-24763	.	denotes	.
T12918	24763-24852	sentence	denotes	Data were collected using the Illumina BeadStation scanner and data collection software.
T12919	24764-24768	NNS	denotes	Data
T12921	24769-24773	VBD	denotes	were
T12920	24774-24783	VBN	denotes	collected
T12922	24784-24789	VBG	denotes	using
T12923	24790-24793	DT	denotes	the
T12925	24794-24802	NNP	denotes	Illumina
T12926	24803-24814	NNP	denotes	BeadStation
T12924	24815-24822	NN	denotes	scanner
T12927	24823-24826	CC	denotes	and
T12928	24827-24831	NNS	denotes	data
T12929	24832-24842	NN	denotes	collection
T12930	24843-24851	NN	denotes	software
T12931	24851-24852	.	denotes	.
T12932	24852-25051	sentence	denotes	Genotypes were produced using the genotyping module of BeadStudio (version 2.3.25; Illumina), and log R ratio and B allele frequency were visualized using the genome viewer tool within this package.
T12933	24853-24862	NNS	denotes	Genotypes
T12935	24863-24867	VBD	denotes	were
T12934	24868-24876	VBN	denotes	produced
T12936	24877-24882	VBG	denotes	using
T12937	24883-24886	DT	denotes	the
T12939	24887-24897	NN	denotes	genotyping
T12938	24898-24904	NN	denotes	module
T12940	24905-24907	IN	denotes	of
T12941	24908-24918	NNP	denotes	BeadStudio
T12942	24919-24920	-LRB-	denotes	(
T12943	24920-24927	NN	denotes	version
T12944	24928-24934	CD	denotes	2.3.25
T12945	24934-24935	:	denotes	;
T12946	24936-24944	NNP	denotes	Illumina
T12947	24944-24945	-RRB-	denotes	)
T12948	24945-24947	,	denotes	,
T12949	24947-24950	CC	denotes	and
T12950	24951-24954	NN	denotes	log
T12951	24955-24956	NN	denotes	R
T12952	24957-24962	NN	denotes	ratio
T12954	24963-24966	CC	denotes	and
T12955	24967-24968	NN	denotes	B
T12956	24969-24975	NN	denotes	allele
T12957	24976-24985	NN	denotes	frequency
T12958	24986-24990	VBD	denotes	were
T12953	24991-25001	VBN	denotes	visualized
T12959	25002-25007	VBG	denotes	using
T12960	25008-25011	DT	denotes	the
T12962	25012-25018	NN	denotes	genome
T12963	25019-25025	JJR	denotes	viewer
T12961	25026-25030	NN	denotes	tool
T12964	25031-25037	IN	denotes	within
T12965	25038-25042	DT	denotes	this
T12966	25043-25050	NN	denotes	package
T12967	25050-25051	.	denotes	.
T12968	25051-25388	sentence	denotes	In order to rule out the possibility that the observed deletion within ITPR1 was a benign copy number variant we examined log R ratio and B allele frequency metrics of HumanHap550 genotyping data at this locus from 577 individuals of Northern European descent from North America and Europe, produced by us as a part of an ongoing study.
T12969	25052-25054	IN	denotes	In
T12971	25055-25060	NN	denotes	order
T12972	25061-25063	TO	denotes	to
T12973	25064-25068	VB	denotes	rule
T12974	25069-25072	RP	denotes	out
T12975	25073-25076	DT	denotes	the
T12976	25077-25088	NN	denotes	possibility
T12977	25089-25093	IN	denotes	that
T12979	25094-25097	DT	denotes	the
T12981	25098-25106	VBN	denotes	observed
T12980	25107-25115	NN	denotes	deletion
T12982	25116-25122	IN	denotes	within
T12983	25123-25128	NN	denotes	ITPR1
T12978	25129-25132	VBD	denotes	was
T12984	25133-25134	DT	denotes	a
T12986	25135-25141	JJ	denotes	benign
T12987	25142-25146	NN	denotes	copy
T12988	25147-25153	NN	denotes	number
T12985	25154-25161	NN	denotes	variant
T12989	25162-25164	PRP	denotes	we
T12970	25165-25173	VBD	denotes	examined
T12990	25174-25177	NN	denotes	log
T12991	25178-25179	NN	denotes	R
T12992	25180-25185	NN	denotes	ratio
T12994	25186-25189	CC	denotes	and
T12995	25190-25191	NN	denotes	B
T12996	25192-25198	NN	denotes	allele
T12997	25199-25208	NN	denotes	frequency
T12993	25209-25216	NNS	denotes	metrics
T12998	25217-25219	IN	denotes	of
T12999	25220-25231	NN	denotes	HumanHap550
T13001	25232-25242	NN	denotes	genotyping
T13000	25243-25247	NNS	denotes	data
T13002	25248-25250	IN	denotes	at
T13003	25251-25255	DT	denotes	this
T13004	25256-25261	NN	denotes	locus
T13005	25262-25266	IN	denotes	from
T13006	25267-25270	CD	denotes	577
T13007	25271-25282	NNS	denotes	individuals
T13008	25283-25285	IN	denotes	of
T13009	25286-25294	JJ	denotes	Northern
T13010	25295-25303	JJ	denotes	European
T13011	25304-25311	NN	denotes	descent
T13012	25312-25316	IN	denotes	from
T13013	25317-25322	NNP	denotes	North
T13014	25323-25330	NNP	denotes	America
T13015	25331-25334	CC	denotes	and
T13016	25335-25341	NNP	denotes	Europe
T13017	25341-25343	,	denotes	,
T13018	25343-25351	VBN	denotes	produced
T13019	25352-25354	IN	denotes	by
T13020	25355-25357	PRP	denotes	us
T13021	25358-25360	IN	denotes	as
T13022	25361-25362	DT	denotes	a
T13023	25363-25367	NN	denotes	part
T13024	25368-25370	IN	denotes	of
T13025	25371-25373	DT	denotes	an
T13027	25374-25381	JJ	denotes	ongoing
T13026	25382-25387	NN	denotes	study
T13028	25387-25388	.	denotes	.
T13029	25388-25659	sentence	denotes	In an attempt to narrow the unknown intervals flanking the deletion observed in family AUS1, we designed primers for 30 PCR amplifications that would generate overlapping fragments across the two bordering regions (primer sequence and conditions available upon request).
T13030	25389-25391	IN	denotes	In
T13032	25392-25394	DT	denotes	an
T13033	25395-25402	NN	denotes	attempt
T13034	25403-25405	TO	denotes	to
T13035	25406-25412	VB	denotes	narrow
T13036	25413-25416	DT	denotes	the
T13038	25417-25424	JJ	denotes	unknown
T13037	25425-25434	NNS	denotes	intervals
T13039	25435-25443	VBG	denotes	flanking
T13040	25444-25447	DT	denotes	the
T13041	25448-25456	NN	denotes	deletion
T13042	25457-25465	VBN	denotes	observed
T13043	25466-25468	IN	denotes	in
T13044	25469-25475	NN	denotes	family
T13045	25476-25480	NN	denotes	AUS1
T13046	25480-25482	,	denotes	,
T13047	25482-25484	PRP	denotes	we
T13031	25485-25493	VBD	denotes	designed
T13048	25494-25501	NNS	denotes	primers
T13049	25502-25505	IN	denotes	for
T13050	25506-25508	CD	denotes	30
T13052	25509-25512	NN	denotes	PCR
T13051	25513-25527	NNS	denotes	amplifications
T13053	25528-25532	WDT	denotes	that
T13055	25533-25538	MD	denotes	would
T13054	25539-25547	VB	denotes	generate
T13056	25548-25559	VBG	denotes	overlapping
T13057	25560-25569	NNS	denotes	fragments
T13058	25570-25576	IN	denotes	across
T13059	25577-25580	DT	denotes	the
T13061	25581-25584	CD	denotes	two
T13062	25585-25594	NN	denotes	bordering
T13060	25595-25602	NNS	denotes	regions
T13063	25603-25604	-LRB-	denotes	(
T13065	25604-25610	NN	denotes	primer
T13064	25611-25619	NN	denotes	sequence
T13066	25620-25623	CC	denotes	and
T13067	25624-25634	NNS	denotes	conditions
T13068	25635-25644	JJ	denotes	available
T13069	25645-25649	IN	denotes	upon
T13070	25650-25657	NN	denotes	request
T13071	25657-25658	-RRB-	denotes	)
T13072	25658-25659	.	denotes	.
T13073	25659-25781	sentence	denotes	There were ten primer pairs in the telomeric flanking region and 20 pairs in the centromeric flanking region (Figure S3).
T13074	25660-25665	EX	denotes	There
T13075	25666-25670	VBD	denotes	were
T13076	25671-25674	CD	denotes	ten
T13078	25675-25681	NN	denotes	primer
T13077	25682-25687	NNS	denotes	pairs
T13079	25688-25690	IN	denotes	in
T13080	25691-25694	DT	denotes	the
T13082	25695-25704	JJ	denotes	telomeric
T13083	25705-25713	NN	denotes	flanking
T13081	25714-25720	NN	denotes	region
T13084	25721-25724	CC	denotes	and
T13085	25725-25727	CD	denotes	20
T13086	25728-25733	NNS	denotes	pairs
T13087	25734-25736	IN	denotes	in
T13088	25737-25740	DT	denotes	the
T13090	25741-25752	JJ	denotes	centromeric
T13091	25753-25761	NN	denotes	flanking
T13089	25762-25768	NN	denotes	region
T13092	25769-25770	-LRB-	denotes	(
T13094	25770-25776	NN	denotes	Figure
T13093	25777-25779	NN	denotes	S3
T13095	25779-25780	-RRB-	denotes	)
T13096	25780-25781	.	denotes	.
T13097	25781-25953	sentence	denotes	On average each product was ~750 bp in size, and amplifications were performed using genomic DNA from each of the three affected individuals (family members 6, 7, and 19).
T13098	25782-25784	IN	denotes	On
T13100	25785-25792	JJ	denotes	average
T13101	25793-25797	DT	denotes	each
T13102	25798-25805	NN	denotes	product
T13099	25806-25809	VBD	denotes	was
T13103	25810-25811	SYM	denotes	~
T13104	25811-25814	CD	denotes	750
T13105	25815-25817	NN	denotes	bp
T13106	25818-25820	IN	denotes	in
T13107	25821-25825	NN	denotes	size
T13108	25825-25827	,	denotes	,
T13109	25827-25830	CC	denotes	and
T13110	25831-25845	NNS	denotes	amplifications
T13112	25846-25850	VBD	denotes	were
T13111	25851-25860	VBN	denotes	performed
T13113	25861-25866	VBG	denotes	using
T13114	25867-25874	JJ	denotes	genomic
T13115	25875-25878	NN	denotes	DNA
T13116	25879-25883	IN	denotes	from
T13117	25884-25888	DT	denotes	each
T13118	25889-25891	IN	denotes	of
T13119	25892-25895	DT	denotes	the
T13121	25896-25901	CD	denotes	three
T13122	25902-25910	VBN	denotes	affected
T13120	25911-25922	NNS	denotes	individuals
T13123	25923-25924	-LRB-	denotes	(
T13125	25924-25930	NN	denotes	family
T13126	25931-25938	NNS	denotes	members
T13124	25939-25940	CD	denotes	6
T13127	25940-25942	,	denotes	,
T13128	25942-25943	CD	denotes	7
T13129	25943-25945	,	denotes	,
T13130	25945-25948	CC	denotes	and
T13131	25949-25951	CD	denotes	19
T13132	25951-25952	-RRB-	denotes	)
T13133	25952-25953	.	denotes	.
T13134	25953-26147	sentence	denotes	Dye-terminator sequencing of each product was performed using the forward and reverse primers designed for amplification; running and analysis of each fragment was performed as described above.
T13135	25954-25957	NN	denotes	Dye
T13137	25957-25958	HYPH	denotes	-
T13136	25958-25968	NN	denotes	terminator
T13138	25969-25979	NN	denotes	sequencing
T13140	25980-25982	IN	denotes	of
T13141	25983-25987	DT	denotes	each
T13142	25988-25995	NN	denotes	product
T13143	25996-25999	VBD	denotes	was
T13139	26000-26009	VBN	denotes	performed
T13145	26010-26015	VBG	denotes	using
T13146	26016-26019	DT	denotes	the
T13148	26020-26027	JJ	denotes	forward
T13149	26028-26031	CC	denotes	and
T13150	26032-26039	JJ	denotes	reverse
T13147	26040-26047	NNS	denotes	primers
T13151	26048-26056	VBN	denotes	designed
T13152	26057-26060	IN	denotes	for
T13153	26061-26074	NN	denotes	amplification
T13154	26074-26075	:	denotes	;
T13155	26076-26083	VBG	denotes	running
T13157	26084-26087	CC	denotes	and
T13156	26088-26096	NN	denotes	analysis
T13158	26097-26099	IN	denotes	of
T13159	26100-26104	DT	denotes	each
T13160	26105-26113	NN	denotes	fragment
T13161	26114-26117	VBD	denotes	was
T13144	26118-26127	VBN	denotes	performed
T13162	26128-26130	IN	denotes	as
T13163	26131-26140	VBN	denotes	described
T13164	26141-26146	RB	denotes	above
T13165	26146-26147	.	denotes	.
T13166	26147-26600	sentence	denotes	Amplification of a fragment from a normal diploid genome was denoted by the presence of a heterozygous polymorphism; amplification of a fragment from a region of the genome harboring a heterozygous genomic deletion was inferred when homozygosity for the major allele and the minor allele were noted among the three affected family members (i.e., this is inconsistent with Mendelian inheritance in related individuals known to share a common haplotype).
T13167	26148-26161	NN	denotes	Amplification
T13169	26162-26164	IN	denotes	of
T13170	26165-26166	DT	denotes	a
T13171	26167-26175	NN	denotes	fragment
T13172	26176-26180	IN	denotes	from
T13173	26181-26182	DT	denotes	a
T13175	26183-26189	JJ	denotes	normal
T13176	26190-26197	JJ	denotes	diploid
T13174	26198-26204	NN	denotes	genome
T13177	26205-26208	VBD	denotes	was
T13168	26209-26216	VBN	denotes	denoted
T13179	26217-26219	IN	denotes	by
T13180	26220-26223	DT	denotes	the
T13181	26224-26232	NN	denotes	presence
T13182	26233-26235	IN	denotes	of
T13183	26236-26237	DT	denotes	a
T13185	26238-26250	JJ	denotes	heterozygous
T13184	26251-26263	NN	denotes	polymorphism
T13186	26263-26264	:	denotes	;
T13187	26265-26278	NN	denotes	amplification
T13188	26279-26281	IN	denotes	of
T13189	26282-26283	DT	denotes	a
T13190	26284-26292	NN	denotes	fragment
T13191	26293-26297	IN	denotes	from
T13192	26298-26299	DT	denotes	a
T13193	26300-26306	NN	denotes	region
T13194	26307-26309	IN	denotes	of
T13195	26310-26313	DT	denotes	the
T13196	26314-26320	NN	denotes	genome
T13197	26321-26330	VBG	denotes	harboring
T13198	26331-26332	DT	denotes	a
T13200	26333-26345	JJ	denotes	heterozygous
T13201	26346-26353	JJ	denotes	genomic
T13199	26354-26362	NN	denotes	deletion
T13202	26363-26366	VBD	denotes	was
T13178	26367-26375	VBN	denotes	inferred
T13203	26376-26380	WRB	denotes	when
T13205	26381-26393	NN	denotes	homozygosity
T13206	26394-26397	IN	denotes	for
T13207	26398-26401	DT	denotes	the
T13209	26402-26407	JJ	denotes	major
T13208	26408-26414	NN	denotes	allele
T13210	26415-26418	CC	denotes	and
T13211	26419-26422	DT	denotes	the
T13213	26423-26428	JJ	denotes	minor
T13212	26429-26435	NN	denotes	allele
T13214	26436-26440	VBD	denotes	were
T13204	26441-26446	VBN	denotes	noted
T13215	26447-26452	IN	denotes	among
T13216	26453-26456	DT	denotes	the
T13218	26457-26462	CD	denotes	three
T13219	26463-26471	VBN	denotes	affected
T13220	26472-26478	NN	denotes	family
T13217	26479-26486	NNS	denotes	members
T13221	26487-26488	-LRB-	denotes	(
T13223	26488-26492	FW	denotes	i.e.
T13224	26492-26494	,	denotes	,
T13225	26494-26498	DT	denotes	this
T13222	26499-26501	VBZ	denotes	is
T13226	26502-26514	JJ	denotes	inconsistent
T13227	26515-26519	IN	denotes	with
T13228	26520-26529	JJ	denotes	Mendelian
T13229	26530-26541	NN	denotes	inheritance
T13230	26542-26544	IN	denotes	in
T13231	26545-26552	JJ	denotes	related
T13232	26553-26564	NNS	denotes	individuals
T13233	26565-26570	VBN	denotes	known
T13234	26571-26573	TO	denotes	to
T13235	26574-26579	VB	denotes	share
T13236	26580-26581	DT	denotes	a
T13238	26582-26588	JJ	denotes	common
T13237	26589-26598	NN	denotes	haplotype
T13239	26598-26599	-RRB-	denotes	)
T13240	26599-26600	.	denotes	.
T13241	26600-26789	sentence	denotes	Using the data from the experiments described above we were able to limit the size of unknown regions flanking the deletion to ~4 kb on the telomeric side and 7 kb on the centromeric side.
T13242	26601-26606	VBG	denotes	Using
T13244	26607-26610	DT	denotes	the
T13245	26611-26615	NNS	denotes	data
T13246	26616-26620	IN	denotes	from
T13247	26621-26624	DT	denotes	the
T13248	26625-26636	NNS	denotes	experiments
T13249	26637-26646	VBN	denotes	described
T13250	26647-26652	RB	denotes	above
T13251	26653-26655	PRP	denotes	we
T13243	26656-26660	VBD	denotes	were
T13252	26661-26665	JJ	denotes	able
T13253	26666-26668	TO	denotes	to
T13254	26669-26674	VB	denotes	limit
T13255	26675-26678	DT	denotes	the
T13256	26679-26683	NN	denotes	size
T13257	26684-26686	IN	denotes	of
T13258	26687-26694	JJ	denotes	unknown
T13259	26695-26702	NNS	denotes	regions
T13260	26703-26711	VBG	denotes	flanking
T13261	26712-26715	DT	denotes	the
T13262	26716-26724	NN	denotes	deletion
T13263	26725-26727	IN	denotes	to
T13264	26728-26729	SYM	denotes	~
T13265	26729-26730	CD	denotes	4
T13266	26731-26733	NN	denotes	kb
T13267	26734-26736	IN	denotes	on
T13268	26737-26740	DT	denotes	the
T13270	26741-26750	JJ	denotes	telomeric
T13269	26751-26755	NN	denotes	side
T13271	26756-26759	CC	denotes	and
T13272	26760-26761	CD	denotes	7
T13273	26762-26764	NN	denotes	kb
T13274	26765-26767	IN	denotes	on
T13275	26768-26771	DT	denotes	the
T13277	26772-26783	JJ	denotes	centromeric
T13276	26784-26788	NN	denotes	side
T13278	26788-26789	.	denotes	.
T13279	26789-27133	sentence	denotes	All combinations of forward primers from the newly defined region flanking the deletion on the telomeric side with reverse primers from the newly defined region flanking the deletion on the centromeric side were used in PCR amplification reactions performed with DNA from the three affected family members and single unaffected family members.
T13280	26790-26793	DT	denotes	All
T13281	26794-26806	NNS	denotes	combinations
T13283	26807-26809	IN	denotes	of
T13284	26810-26817	JJ	denotes	forward
T13285	26818-26825	NNS	denotes	primers
T13286	26826-26830	IN	denotes	from
T13287	26831-26834	DT	denotes	the
T13289	26835-26840	RB	denotes	newly
T13290	26841-26848	VBN	denotes	defined
T13288	26849-26855	NN	denotes	region
T13291	26856-26864	VBG	denotes	flanking
T13292	26865-26868	DT	denotes	the
T13293	26869-26877	NN	denotes	deletion
T13294	26878-26880	IN	denotes	on
T13295	26881-26884	DT	denotes	the
T13297	26885-26894	JJ	denotes	telomeric
T13296	26895-26899	NN	denotes	side
T13298	26900-26904	IN	denotes	with
T13299	26905-26912	JJ	denotes	reverse
T13300	26913-26920	NNS	denotes	primers
T13301	26921-26925	IN	denotes	from
T13302	26926-26929	DT	denotes	the
T13304	26930-26935	RB	denotes	newly
T13305	26936-26943	VBN	denotes	defined
T13303	26944-26950	NN	denotes	region
T13306	26951-26959	VBG	denotes	flanking
T13307	26960-26963	DT	denotes	the
T13308	26964-26972	NN	denotes	deletion
T13309	26973-26975	IN	denotes	on
T13310	26976-26979	DT	denotes	the
T13312	26980-26991	JJ	denotes	centromeric
T13311	26992-26996	NN	denotes	side
T13313	26997-27001	VBD	denotes	were
T13282	27002-27006	VBN	denotes	used
T13314	27007-27009	IN	denotes	in
T13315	27010-27013	NN	denotes	PCR
T13316	27014-27027	NN	denotes	amplification
T13317	27028-27037	NNS	denotes	reactions
T13318	27038-27047	VBN	denotes	performed
T13319	27048-27052	IN	denotes	with
T13320	27053-27056	NN	denotes	DNA
T13321	27057-27061	IN	denotes	from
T13322	27062-27065	DT	denotes	the
T13324	27066-27071	CD	denotes	three
T13325	27072-27080	VBN	denotes	affected
T13326	27081-27087	NN	denotes	family
T13323	27088-27095	NNS	denotes	members
T13327	27096-27099	CC	denotes	and
T13328	27100-27106	JJ	denotes	single
T13330	27107-27117	JJ	denotes	unaffected
T13331	27118-27124	NN	denotes	family
T13329	27125-27132	NNS	denotes	members
T13332	27132-27133	.	denotes	.
T13333	27133-27249	sentence	denotes	This experiment was performed in an attempt to amplify across the deleted fragment and define the exact breakpoint.
T13334	27134-27138	DT	denotes	This
T13335	27139-27149	NN	denotes	experiment
T13337	27150-27153	VBD	denotes	was
T13336	27154-27163	VBN	denotes	performed
T13338	27164-27166	IN	denotes	in
T13339	27167-27169	DT	denotes	an
T13340	27170-27177	NN	denotes	attempt
T13341	27178-27180	TO	denotes	to
T13342	27181-27188	VB	denotes	amplify
T13343	27189-27195	IN	denotes	across
T13344	27196-27199	DT	denotes	the
T13346	27200-27207	VBN	denotes	deleted
T13345	27208-27216	NN	denotes	fragment
T13347	27217-27220	CC	denotes	and
T13348	27221-27227	VB	denotes	define
T13349	27228-27231	DT	denotes	the
T13351	27232-27237	JJ	denotes	exact
T13350	27238-27248	NN	denotes	breakpoint
T13352	27248-27249	.	denotes	.
T13353	27249-27457	sentence	denotes	A single fragment was obtained from the third forward primer from the telomeric side (T3f 5′-TGAATGCTCAATTTTCCAGC-3′) with the 11th reverse primer from the centromeric side (C11r 5′-GGGAAAATGGATAGAGGGTG-3′).
T13354	27250-27251	DT	denotes	A
T13356	27252-27258	JJ	denotes	single
T13355	27259-27267	NN	denotes	fragment
T13358	27268-27271	VBD	denotes	was
T13357	27272-27280	VBN	denotes	obtained
T13359	27281-27285	IN	denotes	from
T13360	27286-27289	DT	denotes	the
T13362	27290-27295	JJ	denotes	third
T13363	27296-27303	JJ	denotes	forward
T13361	27304-27310	NN	denotes	primer
T13364	27311-27315	IN	denotes	from
T13365	27316-27319	DT	denotes	the
T13367	27320-27329	JJ	denotes	telomeric
T13366	27330-27334	NN	denotes	side
T13368	27335-27336	-LRB-	denotes	(
T13370	27336-27339	NN	denotes	T3f
T13371	27340-27341	CD	denotes	5
T13372	27341-27342	SYM	denotes	′
T13373	27342-27343	HYPH	denotes	-
T13369	27343-27363	NN	denotes	TGAATGCTCAATTTTCCAGC
T13374	27363-27364	HYPH	denotes	-
T13375	27364-27365	CD	denotes	3
T13376	27365-27366	SYM	denotes	′
T13377	27366-27367	-RRB-	denotes	)
T13378	27368-27372	IN	denotes	with
T13379	27373-27376	DT	denotes	the
T13381	27377-27381	JJ	denotes	11th
T13382	27382-27389	JJ	denotes	reverse
T13380	27390-27396	NN	denotes	primer
T13383	27397-27401	IN	denotes	from
T13384	27402-27405	DT	denotes	the
T13386	27406-27417	JJ	denotes	centromeric
T13385	27418-27422	NN	denotes	side
T13387	27423-27424	-LRB-	denotes	(
T13389	27424-27428	NN	denotes	C11r
T13390	27429-27430	CD	denotes	5
T13391	27430-27431	SYM	denotes	′
T13392	27431-27432	HYPH	denotes	-
T13388	27432-27452	NN	denotes	GGGAAAATGGATAGAGGGTG
T13393	27452-27453	HYPH	denotes	-
T13394	27453-27454	CD	denotes	3
T13395	27454-27455	SYM	denotes	′
T13396	27455-27456	-RRB-	denotes	)
T13397	27456-27457	.	denotes	.
T13398	27457-27584	sentence	denotes	The fragment, which is 953 bp in size, was sequenced as described above and compared to the current build of the human genome.
T13399	27458-27461	DT	denotes	The
T13400	27462-27470	NN	denotes	fragment
T13402	27470-27472	,	denotes	,
T13403	27472-27477	WDT	denotes	which
T13404	27478-27480	VBZ	denotes	is
T13405	27481-27484	CD	denotes	953
T13406	27485-27487	NN	denotes	bp
T13407	27488-27490	IN	denotes	in
T13408	27491-27495	NN	denotes	size
T13409	27495-27497	,	denotes	,
T13410	27497-27500	VBD	denotes	was
T13401	27501-27510	VBN	denotes	sequenced
T13411	27511-27513	IN	denotes	as
T13412	27514-27523	VBN	denotes	described
T13413	27524-27529	RB	denotes	above
T13414	27530-27533	CC	denotes	and
T13415	27534-27542	VBN	denotes	compared
T13416	27543-27545	IN	denotes	to
T13417	27546-27549	DT	denotes	the
T13419	27550-27557	JJ	denotes	current
T13418	27558-27563	NN	denotes	build
T13420	27564-27566	IN	denotes	of
T13421	27567-27570	DT	denotes	the
T13423	27571-27576	JJ	denotes	human
T13422	27577-27583	NN	denotes	genome
T13424	27583-27584	.	denotes	.
T13425	27584-27979	sentence	denotes	A similar series of experiments was performed to identify the deletion breakpoints in families H27 and H33; we were able to amplify a 369-bp PCR product across the breakpoint found in affected members of family H27 using primer pair H27-11F 5′-GACCTCAAGAAGGCATGAATAC-3′ and H27-3R 5′-ATGGTGGCCAGGTACACAAG-3′ (Figure S4), but to date we have been unable to identify the breakpoint in family H33.
T13426	27585-27586	DT	denotes	A
T13428	27587-27594	JJ	denotes	similar
T13427	27595-27601	NN	denotes	series
T13430	27602-27604	IN	denotes	of
T13431	27605-27616	NNS	denotes	experiments
T13432	27617-27620	VBD	denotes	was
T13429	27621-27630	VBN	denotes	performed
T13434	27631-27633	TO	denotes	to
T13435	27634-27642	VB	denotes	identify
T13436	27643-27646	DT	denotes	the
T13438	27647-27655	NN	denotes	deletion
T13437	27656-27667	NNS	denotes	breakpoints
T13439	27668-27670	IN	denotes	in
T13440	27671-27679	NNS	denotes	families
T13441	27680-27683	NN	denotes	H27
T13442	27684-27687	CC	denotes	and
T13443	27688-27691	NN	denotes	H33
T13444	27691-27692	:	denotes	;
T13445	27693-27695	PRP	denotes	we
T13433	27696-27700	VBD	denotes	were
T13446	27701-27705	JJ	denotes	able
T13447	27706-27708	TO	denotes	to
T13448	27709-27716	VB	denotes	amplify
T13449	27717-27718	DT	denotes	a
T13451	27719-27722	CD	denotes	369
T13453	27722-27723	HYPH	denotes	-
T13452	27723-27725	NN	denotes	bp
T13454	27726-27729	NN	denotes	PCR
T13450	27730-27737	NN	denotes	product
T13455	27738-27744	IN	denotes	across
T13456	27745-27748	DT	denotes	the
T13457	27749-27759	NN	denotes	breakpoint
T13458	27760-27765	VBN	denotes	found
T13459	27766-27768	IN	denotes	in
T13460	27769-27777	VBN	denotes	affected
T13461	27778-27785	NNS	denotes	members
T13462	27786-27788	IN	denotes	of
T13463	27789-27795	NN	denotes	family
T13464	27796-27799	NN	denotes	H27
T13465	27800-27805	VBG	denotes	using
T13466	27806-27812	NN	denotes	primer
T13467	27813-27817	NN	denotes	pair
T13468	27818-27821	NN	denotes	H27
T13470	27821-27822	HYPH	denotes	-
T13469	27822-27825	NN	denotes	11F
T13472	27826-27827	CD	denotes	5
T13473	27827-27828	SYM	denotes	′
T13474	27828-27829	HYPH	denotes	-
T13471	27829-27851	NN	denotes	GACCTCAAGAAGGCATGAATAC
T13475	27851-27852	HYPH	denotes	-
T13476	27852-27853	CD	denotes	3
T13477	27853-27854	SYM	denotes	′
T13478	27855-27858	CC	denotes	and
T13479	27859-27862	NN	denotes	H27
T13481	27862-27863	HYPH	denotes	-
T13480	27863-27865	NN	denotes	3R
T13483	27866-27867	CD	denotes	5
T13484	27867-27868	SYM	denotes	′
T13485	27868-27869	HYPH	denotes	-
T13482	27869-27889	NN	denotes	ATGGTGGCCAGGTACACAAG
T13486	27889-27890	HYPH	denotes	-
T13487	27890-27891	CD	denotes	3
T13488	27891-27892	SYM	denotes	′
T13489	27893-27894	-LRB-	denotes	(
T13491	27894-27900	NN	denotes	Figure
T13490	27901-27903	NN	denotes	S4
T13492	27903-27904	-RRB-	denotes	)
T13493	27904-27906	,	denotes	,
T13494	27906-27909	CC	denotes	but
T13495	27910-27912	IN	denotes	to
T13497	27913-27917	NN	denotes	date
T13498	27918-27920	PRP	denotes	we
T13499	27921-27925	VBP	denotes	have
T13496	27926-27930	VBN	denotes	been
T13500	27931-27937	JJ	denotes	unable
T13501	27938-27940	TO	denotes	to
T13502	27941-27949	VB	denotes	identify
T13503	27950-27953	DT	denotes	the
T13504	27954-27964	NN	denotes	breakpoint
T13505	27965-27967	IN	denotes	in
T13506	27968-27974	NN	denotes	family
T13507	27975-27978	NN	denotes	H33
T13508	27978-27979	.	denotes	.
T13807	27981-27988	NNP	denotes	Western
T13808	27989-27993	NN	denotes	blot
T13809	27994-28002	NN	denotes	analysis
T13810	28003-28005	IN	denotes	in
T13811	28006-28011	NN	denotes	SCA15
T13812	28012-28020	NNS	denotes	patients
T13813	28020-28021	.	denotes	.
T13814	28021-28251	sentence	denotes	EBV immortalized lymphoblasts from three affected family members who carry the deletion and one family member without the mutation were used as a readily accessible source of protein; all samples came from members of family AUS1.
T13815	28022-28025	NN	denotes	EBV
T13817	28026-28038	VBN	denotes	immortalized
T13816	28039-28051	NNS	denotes	lymphoblasts
T13819	28052-28056	IN	denotes	from
T13820	28057-28062	CD	denotes	three
T13822	28063-28071	VBN	denotes	affected
T13823	28072-28078	NN	denotes	family
T13821	28079-28086	NNS	denotes	members
T13824	28087-28090	WP	denotes	who
T13825	28091-28096	VBP	denotes	carry
T13826	28097-28100	DT	denotes	the
T13827	28101-28109	NN	denotes	deletion
T13828	28110-28113	CC	denotes	and
T13829	28114-28117	CD	denotes	one
T13831	28118-28124	NN	denotes	family
T13830	28125-28131	NN	denotes	member
T13832	28132-28139	IN	denotes	without
T13833	28140-28143	DT	denotes	the
T13834	28144-28152	NN	denotes	mutation
T13835	28153-28157	VBD	denotes	were
T13818	28158-28162	VBN	denotes	used
T13837	28163-28165	IN	denotes	as
T13838	28166-28167	DT	denotes	a
T13840	28168-28175	RB	denotes	readily
T13841	28176-28186	JJ	denotes	accessible
T13839	28187-28193	NN	denotes	source
T13842	28194-28196	IN	denotes	of
T13843	28197-28204	NN	denotes	protein
T13844	28204-28205	:	denotes	;
T13845	28206-28209	DT	denotes	all
T13846	28210-28217	NNS	denotes	samples
T13836	28218-28222	VBD	denotes	came
T13847	28223-28227	IN	denotes	from
T13848	28228-28235	NNS	denotes	members
T13849	28236-28238	IN	denotes	of
T13850	28239-28245	NN	denotes	family
T13851	28246-28250	NN	denotes	AUS1
T13852	28250-28251	.	denotes	.
T13853	28251-28417	sentence	denotes	Protein extraction was performed using lysis buffer containing 1× TBS, 1% Triton X-100, and a cocktail of protease inhibitors (Roche) with overnight lysis at −80 °C.
T13854	28252-28259	NN	denotes	Protein
T13855	28260-28270	NN	denotes	extraction
T13857	28271-28274	VBD	denotes	was
T13856	28275-28284	VBN	denotes	performed
T13858	28285-28290	VBG	denotes	using
T13859	28291-28296	NN	denotes	lysis
T13860	28297-28303	NN	denotes	buffer
T13861	28304-28314	VBG	denotes	containing
T13862	28315-28316	CD	denotes	1
T13864	28316-28317	SYM	denotes	×
T13863	28318-28321	NN	denotes	TBS
T13865	28321-28323	,	denotes	,
T13866	28323-28324	CD	denotes	1
T13867	28324-28325	NN	denotes	%
T13869	28326-28332	NN	denotes	Triton
T13868	28333-28334	NN	denotes	X
T13870	28334-28335	HYPH	denotes	-
T13871	28335-28338	CD	denotes	100
T13872	28338-28340	,	denotes	,
T13873	28340-28343	CC	denotes	and
T13874	28344-28345	DT	denotes	a
T13875	28346-28354	NN	denotes	cocktail
T13876	28355-28357	IN	denotes	of
T13877	28358-28366	NN	denotes	protease
T13878	28367-28377	NNS	denotes	inhibitors
T13879	28378-28379	-LRB-	denotes	(
T13880	28379-28384	NNP	denotes	Roche
T13881	28384-28385	-RRB-	denotes	)
T13882	28386-28390	IN	denotes	with
T13883	28391-28400	JJ	denotes	overnight
T13884	28401-28406	NN	denotes	lysis
T13885	28407-28409	IN	denotes	at
T13886	28410-28411	SYM	denotes	−
T13887	28411-28413	CD	denotes	80
T13888	28414-28416	NN	denotes	°C
T13889	28416-28417	.	denotes	.
T13890	28417-28594	sentence	denotes	Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (NuPAGE, Invitrogen) for SDS-PAGE and immunoblotting.
T13891	28418-28429	NNS	denotes	Homogenates
T13893	28430-28434	VBD	denotes	were
T13892	28435-28442	VBN	denotes	diluted
T13894	28443-28456	RB	denotes	appropriately
T13895	28456-28458	,	denotes	,
T13896	28458-28463	VBN	denotes	mixed
T13897	28464-28468	IN	denotes	with
T13898	28469-28470	CD	denotes	4
T13900	28470-28471	SYM	denotes	×
T13901	28472-28480	VBG	denotes	reducing
T13902	28481-28487	NN	denotes	sample
T13899	28488-28494	NN	denotes	buffer
T13903	28494-28496	,	denotes	,
T13904	28496-28499	CC	denotes	and
T13905	28500-28506	VBN	denotes	loaded
T13906	28507-28511	IN	denotes	onto
T13907	28512-28513	CD	denotes	4
T13908	28513-28514	NN	denotes	%
T13910	28514-28515	SYM	denotes	–
T13912	28515-28517	CD	denotes	12
T13911	28517-28518	NN	denotes	%
T13913	28519-28526	JJ	denotes	precast
T13914	28527-28535	NN	denotes	gradient
T13909	28536-28540	NNS	denotes	gels
T13915	28541-28542	-LRB-	denotes	(
T13916	28542-28548	NN	denotes	NuPAGE
T13917	28548-28550	,	denotes	,
T13918	28550-28560	NNP	denotes	Invitrogen
T13919	28560-28561	-RRB-	denotes	)
T13920	28562-28565	IN	denotes	for
T13921	28566-28569	NN	denotes	SDS
T13923	28569-28570	HYPH	denotes	-
T13922	28570-28574	NN	denotes	PAGE
T13924	28575-28578	CC	denotes	and
T13925	28579-28593	NN	denotes	immunoblotting
T13926	28593-28594	.	denotes	.
T13927	28594-28690	sentence	denotes	The antibodies to ITPR1 (1:1,000) and ACTB (1:5,000) were used as recommended by manufacturers.
T13928	28595-28598	DT	denotes	The
T13929	28599-28609	NNS	denotes	antibodies
T13931	28610-28612	IN	denotes	to
T13932	28613-28618	NN	denotes	ITPR1
T13933	28619-28620	-LRB-	denotes	(
T13934	28620-28621	CD	denotes	1
T13935	28621-28622	SYM	denotes	:
T13936	28622-28627	CD	denotes	1,000
T13937	28627-28628	-RRB-	denotes	)
T13938	28629-28632	CC	denotes	and
T13939	28633-28637	NN	denotes	ACTB
T13940	28638-28639	-LRB-	denotes	(
T13941	28639-28640	CD	denotes	1
T13942	28640-28641	SYM	denotes	:
T13943	28641-28646	CD	denotes	5,000
T13944	28646-28647	-RRB-	denotes	)
T13945	28648-28652	VBD	denotes	were
T13930	28653-28657	VBN	denotes	used
T13946	28658-28660	IN	denotes	as
T13947	28661-28672	VBN	denotes	recommended
T13948	28673-28675	IN	denotes	by
T13949	28676-28689	NNS	denotes	manufacturers
T13950	28689-28690	.	denotes	.
R10	T880	T881	amod	Spinocerebellar,Ataxia
R100	T979	T980	det	A,mutation
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
R101	T980	T985	nsubj	mutation,causes
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
R102	T981	T982	advmod	previously,reported
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
R103	T982	T980	amod	reported,mutation
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
R104	T983	T980	amod	spontaneous,mutation
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
R105	T984	T980	compound	Itpr1,mutation
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
R106	T986	T980	prep	in,mutation
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
R107	T987	T986	pobj	mice,in
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
R108	T988	T989	det	a,phenotype
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
R109	T989	T985	dobj	phenotype,causes
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
R11	T881	T876	conj	Ataxia,Ataxia
R110	T990	T989	amod	identical,phenotype
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
R111	T991	T990	prep	to,identical
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
R112	T992	T991	pobj	that,to
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
R113	T993	T992	acl	observed,that
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
R114	T994	T993	advmod	here,observed
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
R115	T995	T985	punct	.,causes
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
R116	T997	T998	prep	In,leads
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
R117	T999	T1000	det	both,models
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
R118	T1000	T997	pobj	models,In
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
R119	T1001	T1002	nmod	in,frame
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
R12	T882	T881	nummod	15,Ataxia
R120	T1002	T1004	compound	frame,deletion
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
R121	T1003	T1002	punct	-,frame
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
R122	T1004	T998	nsubj	deletion,leads
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
R123	T1005	T1004	prep	within,deletion
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
R124	T1006	T1005	pobj	Itpr1,within
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
R125	T1007	T998	prep	to,leads
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
R126	T1008	T1009	det	a,decrease
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
R127	T1009	T1007	pobj	decrease,to
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
R128	T1010	T1009	prep	in,decrease
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
R129	T1011	T1012	det	the,level
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
R13	T883	T881	prep	in,Ataxia
R130	T1012	T1010	pobj	level,in
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
R131	T1013	T1014	advmod	normally,high
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
R132	T1014	T1012	amod	high,level
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
R133	T1015	T1012	prep	of,level
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
R134	T1016	T1017	compound	Itpr1,expression
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
R135	T1017	T1015	pobj	expression,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
R136	T1018	T1017	prep	in,expression
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
R137	T1019	T1020	amod	cerebellar,cells
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
R138	T1020	T1018	pobj	cells,in
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
R139	T1021	T1020	compound	Purkinje,cells
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
R14	T884	T883	pobj	Humans,in
R140	T1022	T998	punct	.,leads
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
R141	T1024	T1025	amod	Spinocerebellar,ataxia
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
R142	T1025	T1026	nsubj	ataxia,maps
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
R143	T1026	T1038	ccomp	maps,identified
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
R144	T1027	T1025	nummod	15,ataxia
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
R145	T1028	T1025	punct	(,ataxia
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
R146	T1029	T1025	appos	SCA15,ataxia
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
R147	T1030	T1025	punct	),ataxia
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
R148	T1031	T1025	punct	", ",ataxia
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
R149	T1032	T1033	det	a,disorder
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
R15	T888	T889	nsubj	We,observed
R150	T1033	T1025	appos	disorder,ataxia
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
R151	T1034	T1033	amod	human,disorder
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
R152	T1035	T1033	amod	autosomal,disorder
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
R153	T1036	T1033	amod	dominant,disorder
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
R154	T1037	T1026	punct	", ",maps
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
R155	T1039	T1026	prep	to,maps
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
R156	T1040	T1041	det	the,region
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
R157	T1041	T1039	pobj	region,to
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
R158	T1042	T1041	amod	genomic,region
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
R159	T1043	T1041	acl	containing,region
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
R16	T890	T891	det	a,disorder
R160	T1044	T1043	dobj	ITPR1,containing
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
R161	T1045	T1038	punct	;,identified
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
R162	T1046	T1038	advmod	however,identified
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
R163	T1047	T1038	punct	", ",identified
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
R164	T1048	T1038	prep	to,identified
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
R165	T1049	T1048	pobj	date,to
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
R166	T1050	T1051	det	no,mutations
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
R167	T1051	T1038	nsubjpass	mutations,identified
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
R168	T1052	T1051	amod	causal,mutations
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
R169	T1053	T1038	aux	had,identified
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
R17	T891	T889	dobj	disorder,observed
R170	T1054	T1038	auxpass	been,identified
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
R171	T1055	T1038	punct	.,identified
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
R172	T1057	T1058	mark	Because,is
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
R173	T1058	T1060	advcl	is,performed
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
R174	T1059	T1058	nsubj	ataxia,is
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
R175	T1061	T1062	det	a,feature
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
R176	T1062	T1058	attr	feature,is
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
R177	T1063	T1062	amod	prominent,feature
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
R178	T1064	T1062	prep	in,feature
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
R179	T1065	T1066	compound	Itpr1,mice
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
R18	T892	T891	amod	severe,disorder
R180	T1066	T1064	pobj	mice,in
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
R181	T1067	T1066	compound	mutant,mice
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
R182	T1068	T1060	punct	", ",performed
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
R183	T1069	T1060	nsubj	we,performed
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
R184	T1070	T1071	det	a,series
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
R185	T1071	T1060	dobj	series,performed
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
R186	T1072	T1071	prep	of,series
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
R187	T1073	T1072	pobj	experiments,of
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
R188	T1074	T1075	aux	to,test
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
R189	T1075	T1060	advcl	test,performed
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
R19	T893	T891	amod	autosomal,disorder
R190	T1076	T1077	det	the,hypothesis
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
R191	T1077	T1075	dobj	hypothesis,test
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
R192	T1078	T1079	mark	that,be
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
R193	T1079	T1077	acl	be,hypothesis
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
R194	T1080	T1079	nsubj	mutation,be
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
R195	T1081	T1080	prep	at,mutation
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
R196	T1082	T1081	pobj	ITPR1,at
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
R197	T1083	T1079	aux	may,be
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
R198	T1084	T1085	det	the,cause
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
R199	T1085	T1079	attr	cause,be
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
R20	T894	T891	amod	recessive,disorder
R200	T1086	T1085	prep	of,cause
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
R201	T1087	T1086	pobj	SCA15,of
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
R202	T1088	T1060	punct	.,performed
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
R203	T1090	T1091	nsubj	We,show
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
R204	T1092	T1091	advmod	here,show
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
R205	T1093	T1094	mark	that,underlies
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
R206	T1094	T1091	ccomp	underlies,show
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
R207	T1095	T1096	amod	heterozygous,deletion
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
R208	T1096	T1094	nsubj	deletion,underlies
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
R209	T1097	T1096	prep	of,deletion
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
R21	T895	T891	compound	movement,disorder
R210	T1098	T1099	det	the,part
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
R211	T1099	T1097	pobj	part,of
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
R212	T1100	T1099	nummod	5,part
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
R213	T1101	T1100	punct	′,5
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
R214	T1102	T1099	prep	of,part
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
R215	T1103	T1104	det	the,gene
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
R216	T1104	T1102	pobj	gene,of
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
R217	T1105	T1104	compound	ITPR1,gene
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
R218	T1106	T1099	punct	", ",part
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
R219	T1107	T1099	acl	encompassing,part
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
R22	T896	T889	prep	in,observed
R220	T1108	T1109	nmod	exons,1
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
R221	T1109	T1107	dobj	1,encompassing
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
R222	T1110	T1111	punct	–,10
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
R223	T1111	T1109	prep	10,1
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
R224	T1112	T1109	punct	", ",1
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
R225	T1113	T1109	conj	1,1
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
R226	T1114	T1115	punct	–,40
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
R227	T1115	T1113	prep	40,1
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
R228	T1116	T1113	punct	", ",1
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
R229	T1117	T1113	cc	and,1
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
R23	T897	T896	pobj	mice,in
R230	T1118	T1113	conj	1,1
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
R231	T1119	T1120	punct	–,44
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
R232	T1120	T1118	prep	44,1
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
R233	T1121	T1107	prep	in,encompassing
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
R234	T1122	T1123	nummod	three,families
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
R235	T1123	T1121	pobj	families,in
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
R236	T1124	T1123	amod	studied,families
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
R237	T1125	T1094	punct	", ",underlies
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
R238	T1126	T1094	dobj	SCA15,underlies
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
R239	T1127	T1094	prep	in,underlies
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
R24	T898	T897	acl	used,mice
R240	T1128	T1127	pobj	humans,in
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
R241	T1129	T1091	punct	.,show
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
R242	T1474	T1475	det	The,use
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
R243	T1475	T1476	nsubj	use,become
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
R244	T1477	T1475	prep	of,use
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
R245	T1478	T1479	amod	forward,genetics
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
R246	T1479	T1477	pobj	genetics,of
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
R247	T1480	T1481	aux	to,define
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
R248	T1481	T1475	acl	define,use
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
R249	T1482	T1483	amod	novel,loci
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
R25	T899	T898	prep	within,used
R250	T1483	T1481	dobj	loci,define
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
R251	T1484	T1483	prep	of,loci
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
R252	T1485	T1484	pobj	interest,of
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
R253	T1486	T1483	prep	in,loci
R2530	T8609	T8607	pobj	pathogenesis,in
R2531	T8610	T8609	prep	of,pathogenesis
R2532	T8611	T8612	amod	spinocerebellar,ataxia
R2533	T8612	T8610	pobj	ataxia,of
R2534	T8613	T8594	punct	.,add
R2535	T8971	T8972	npadvmod	Genome,wide
R2536	T8972	T8974	amod	wide,linkage
R2537	T8973	T8972	punct	-,wide
R2538	T8975	T8974	prep	in,linkage
R2539	T8976	T8975	pobj	mice,in
R254	T1487	T1488	amod	human,disease
R2540	T8977	T8974	punct	.,linkage
R2541	T8979	T8980	compound	One,hundred
R2542	T8980	T8981	nummod	hundred,fragments
R2543	T8981	T8985	nsubjpass	fragments,amplified
R2544	T8982	T8980	cc	and,hundred
R2545	T8983	T8980	conj	twenty,hundred
R2546	T8984	T8981	compound	DNA,fragments
R2547	T8986	T8985	auxpass	were,amplified
R2548	T8987	T8985	prep	across,amplified
R2549	T8988	T8989	det	the,genome
R255	T1488	T1486	pobj	disease,in
R2550	T8989	T8987	pobj	genome,across
R2551	T8990	T8985	punct	", ",amplified
R2552	T8991	T8985	npadvmod	each,amplified
R2553	T8992	T8991	acl	selected,each
R2554	T8993	T8994	aux	to,contain
R2555	T8994	T8992	advcl	contain,selected
R2556	T8995	T8996	nummod	one,SNPs
R2557	T8996	T8994	dobj	SNPs,contain
R2558	T8997	T8995	cc	or,one
R2559	T8998	T8995	conj	more,one
R256	T1489	T1476	aux	has,become
R2560	T8999	T9000	npadvmod	strain,specific
R2561	T9000	T8996	amod	specific,SNPs
R2562	T9001	T9000	punct	-,specific
R2563	T9002	T9003	dep	that,differentiate
R2564	T9003	T8996	relcl	differentiate,SNPs
R2565	T9004	T9003	aux	would,differentiate
R2566	T9005	T9003	prep	between,differentiate
R2567	T9006	T9007	nmod	C57BL,6J
R2568	T9007	T9009	nmod	6J,strains
R2569	T9008	T9007	punct	/,6J
R257	T1490	T1491	advmod	increasingly,viable
R2570	T9009	T9005	pobj	strains,between
R2571	T9010	T9007	cc	and,6J
R2572	T9011	T9012	compound	129x1,SvJ
R2573	T9012	T9007	conj	SvJ,6J
R2574	T9013	T9012	punct	/,SvJ
R2575	T9014	T9009	amod	inbred,strains
R2576	T9015	T9016	punct	[,12
R2577	T9016	T8985	parataxis	12,amplified
R2578	T9017	T9016	punct	],12
R2579	T9018	T8985	punct	.,amplified
R258	T1491	T1476	acomp	viable,become
R2580	T9020	T9021	det	Each,fragment
R2581	T9021	T9022	nsubjpass	fragment,amplified
R2582	T9022	T9025	ccomp	amplified,performed
R2583	T9023	T9022	auxpass	was,amplified
R2584	T9024	T9022	advmod	initially,amplified
R2585	T9026	T9022	prep	in,amplified
R2586	T9027	T9028	nummod	11,mice
R2587	T9028	T9026	pobj	mice,in
R2588	T9029	T9028	amod	affected,mice
R2589	T9030	T9028	cc	and,mice
R259	T1492	T1476	prep	with,become
R2590	T9031	T9032	nummod	nine,mice
R2591	T9032	T9028	conj	mice,mice
R2592	T9033	T9032	amod	unaffected,mice
R2593	T9034	T9025	punct	;,performed
R2594	T9035	T9036	compound	genotype,calling
R2595	T9036	T9025	nsubjpass	calling,performed
R2596	T9037	T9025	auxpass	was,performed
R2597	T9038	T9025	prep	by,performed
R2598	T9039	T9040	compound	dye,terminator
R2599	T9040	T9042	compound	terminator,sequencing
R26	T900	T901	poss	our,laboratory
R260	T1493	T1494	det	the,implementation
R2600	T9041	T9040	punct	-,terminator
R2601	T9042	T9038	pobj	sequencing,by
R2602	T9043	T9042	prep	of,sequencing
R2603	T9044	T9045	det	these,fragments
R2604	T9045	T9043	pobj	fragments,of
R2605	T9046	T9025	punct	.,performed
R2606	T9048	T9049	compound	Linkage,analysis
R2607	T9049	T9050	nsubjpass	analysis,performed
R2608	T9051	T9049	acl	using,analysis
R2609	T9052	T9053	det	these,data
R261	T1494	T1492	pobj	implementation,with
R2610	T9053	T9051	dobj	data,using
R2611	T9054	T9050	auxpass	was,performed
R2612	T9055	T9050	advcl	using,performed
R2613	T9056	T9055	dobj	mlink,using
R2614	T9057	T9058	punct	[,13
R2615	T9058	T9055	parataxis	13,using
R2616	T9059	T9058	punct	],13
R2617	T9060	T9050	punct	", ",performed
R2618	T9061	T9062	dep	which,revealed
R2619	T9062	T9050	advcl	revealed,performed
R262	T1495	T1494	prep	of,implementation
R2620	T9063	T9064	det	a,linkage
R2621	T9064	T9062	dobj	linkage,revealed
R2622	T9065	T9064	amod	positive,linkage
R2623	T9066	T9062	prep	at,revealed
R2624	T9067	T9068	compound	Chromosome,6qE1
R2625	T9068	T9066	pobj	6qE1,at
R2626	T9069	T9062	punct	", ",revealed
R2627	T9070	T9062	prep	on,revealed
R2628	T9071	T9072	det	the,background
R2629	T9072	T9070	pobj	background,on
R263	T1496	T1497	amod	large,scale
R2630	T9073	T9074	compound	129x1,SvJ
R2631	T9074	T9072	compound	SvJ,background
R2632	T9075	T9074	punct	/,SvJ
R2633	T9076	T9077	punct	(,score
R2634	T9077	T9072	parataxis	score,background
R2635	T9078	T9079	nummod	two,point
R2636	T9079	T9077	compound	point,score
R2637	T9080	T9079	punct	-,point
R2638	T9081	T9077	compound	LOD,score
R2639	T9082	T9077	nummod	5.13,score
R264	T1497	T1499	compound	scale,programs
R2640	T9083	T9077	prep	at,score
R2641	T9084	T9085	compound	marker,20.MMHAP85FLG2
R2642	T9085	T9083	pobj	20.MMHAP85FLG2,at
R2643	T9086	T9077	punct	),score
R2644	T9087	T9050	punct	.,performed
R2645	T9089	T9090	prep	In,performed
R2646	T9091	T9092	det	an,attempt
R2647	T9092	T9089	pobj	attempt,In
R2648	T9093	T9094	aux	to,narrow
R2649	T9094	T9092	acl	narrow,attempt
R265	T1498	T1497	punct	-,scale
R2650	T9095	T9096	det	the,interval
R2651	T9096	T9094	dobj	interval,narrow
R2652	T9097	T9096	compound	disease,interval
R2653	T9098	T9090	nsubj	we,performed
R2654	T9099	T9100	compound	backcross,experiments
R2655	T9100	T9090	dobj	experiments,performed
R2656	T9101	T9102	dep	that,resulted
R2657	T9102	T9100	relcl	resulted,experiments
R2658	T9103	T9102	prep	in,resulted
R2659	T9104	T9105	det	the,generation
R266	T1499	T1495	pobj	programs,of
R2660	T9105	T9103	pobj	generation,in
R2661	T9106	T9105	prep	of,generation
R2662	T9107	T9108	nummod	three,mice
R2663	T9108	T9106	pobj	mice,of
R2664	T9109	T9108	amod	additional,mice
R2665	T9110	T9108	amod	affected,mice
R2666	T9111	T9090	punct	.,performed
R2667	T9113	T9114	nsubj	Genotyping,revealed
R2668	T9115	T9113	prep	of,Genotyping
R2669	T9116	T9117	det	all,mice
R267	T1500	T1499	compound	mutagenesis,programs
R2670	T9117	T9115	pobj	mice,of
R2671	T9118	T9117	amod	affected,mice
R2672	T9119	T9113	prep	across,Genotyping
R2673	T9120	T9121	det	the,interval
R2674	T9121	T9119	pobj	interval,across
R2675	T9122	T9123	npadvmod	disease,segregating
R2676	T9123	T9121	amod	segregating,interval
R2677	T9124	T9123	punct	-,segregating
R2678	T9125	T9126	amod	flanking,recombinants
R2679	T9126	T9114	dobj	recombinants,revealed
R268	T1501	T1476	punct	.,become
R2680	T9127	T9126	cc	and,recombinants
R2681	T9128	T9129	det	a,region
R2682	T9129	T9126	conj	region,recombinants
R2683	T9130	T9129	compound	candidate,region
R2684	T9131	T9129	prep	of,region
R2685	T9132	T9133	punct	~,5
R2686	T9133	T9134	nummod	5,Mb
R2687	T9134	T9131	pobj	Mb,of
R2688	T9135	T9114	punct	", ",revealed
R2689	T9136	T9114	prep	between,revealed
R269	T1503	T1504	advmod	Prior,to
R2690	T9137	T9138	compound	markers,D6Mit37
R2691	T9138	T9136	pobj	D6Mit37,between
R2692	T9139	T9138	cc	and,D6Mit37
R2693	T9140	T9138	conj	44.MMHAP85FLG5,D6Mit37
R2694	T9141	T9142	punct	(,S1
R2695	T9142	T9114	parataxis	S1,revealed
R2696	T9143	T9142	compound	Figure,S1
R2697	T9144	T9142	punct	),S1
R2698	T9145	T9114	punct	.,revealed
R2699	T9147	T9148	det	This,region
R27	T901	T899	pobj	laboratory,within
R270	T1504	T1505	prep	to,carried
R2700	T9148	T9149	nsubj	region,contains
R2701	T9150	T9151	nummod	16,genes
R2702	T9151	T9149	dobj	genes,contains
R2703	T9152	T9151	cc	and,genes
R2704	T9153	T9154	amod	predicted,transcripts
R2705	T9154	T9151	conj	transcripts,genes
R2706	T9155	T9149	punct	.,contains
R2709	T9603	T9602	prep	of,Identification
R271	T1506	T1507	det	these,initiatives
R2710	T9604	T9605	det	the,lesion
R2711	T9605	T9603	pobj	lesion,of
R2712	T9606	T9605	amod	underlying,lesion
R2713	T9607	T9605	amod	genetic,lesion
R2714	T9608	T9602	prep	in,Identification
R2715	T9609	T9608	pobj	mice,in
R2716	T9610	T9602	punct	.,Identification
R2717	T9612	T9613	nsubjpass	Identification,performed
R2718	T9614	T9612	prep	of,Identification
R2719	T9615	T9616	amod	similar,phenotypes
R272	T1507	T1504	pobj	initiatives,to
R2720	T9616	T9614	pobj	phenotypes,of
R2721	T9617	T9616	prep	in,phenotypes
R2722	T9618	T9617	pobj	mice,in
R2723	T9619	T9618	acl	linked,mice
R2724	T9620	T9619	prep	to,linked
R2725	T9621	T9622	det	the,interval
R2726	T9622	T9620	pobj	interval,to
R2727	T9623	T9622	compound	6qE1,interval
R2728	T9624	T9613	auxpass	was,performed
R2729	T9625	T9613	prep	by,performed
R273	T1508	T1509	det	this,work
R2730	T9626	T9627	compound	literature,searches
R2731	T9627	T9625	pobj	searches,by
R2732	T9628	T9613	punct	.,performed
R2733	T9630	T9631	nsubj	This,revealed
R2734	T9632	T9633	det	the,mouse
R2735	T9633	T9631	dobj	mouse,revealed
R2736	T9634	T9635	compound	Itpr1opt,opt
R2737	T9635	T9633	compound	opt,mouse
R2738	T9636	T9635	punct	/,opt
R2739	T9637	T9633	punct	", ",mouse
R274	T1509	T1505	nsubjpass	work,carried
R2740	T9638	T9639	prep	in,caused
R2741	T9639	T9633	relcl	caused,mouse
R2742	T9640	T9638	pobj	which,in
R2743	T9641	T9639	nsubjpass	disease,caused
R2744	T9642	T9639	auxpass	is,caused
R2745	T9643	T9639	agent	by,caused
R2746	T9644	T9645	amod	homozygous,mutation
R2747	T9645	T9643	pobj	mutation,by
R2748	T9646	T9645	compound	deletion,mutation
R2749	T9647	T9645	prep	of,mutation
R275	T1510	T1505	auxpass	was,carried
R2750	T9648	T9649	nmod	exons,43
R2751	T9649	T9647	pobj	43,of
R2752	T9650	T9649	cc	and,43
R2753	T9651	T9649	conj	44,43
R2754	T9652	T9649	prep	of,43
R2755	T9653	T9652	pobj	Itpr1,of
R2756	T9654	T9631	punct	.,revealed
R2757	T9656	T9657	compound	Primer,pairs
R2758	T9657	T9658	nsubjpass	pairs,designed
R2759	T9659	T9658	auxpass	were,designed
R276	T1511	T1505	prt	out,carried
R2760	T9660	T9661	aux	to,sequence
R2761	T9661	T9658	advcl	sequence,designed
R2762	T9662	T9661	dobj	each,sequence
R2763	T9663	T9662	prep	of,each
R2764	T9664	T9665	det	the,exons
R2765	T9665	T9663	pobj	exons,of
R2766	T9666	T9665	compound	coding,exons
R2767	T9667	T9662	cc	and,each
R2768	T9668	T9669	advmod	at,50
R2769	T9669	T9671	nummod	50,bp
R277	T1512	T1505	prep	in,carried
R2770	T9670	T9669	advmod	least,50
R2771	T9671	T9662	conj	bp,each
R2772	T9672	T9671	prep	of,bp
R2773	T9673	T9674	det	each,sequence
R2774	T9674	T9672	pobj	sequence,of
R2775	T9675	T9674	amod	flanking,sequence
R2776	T9676	T9674	amod	intronic,sequence
R2777	T9677	T9662	prep	of,each
R2778	T9678	T9677	pobj	Itpr1,of
R2779	T9679	T9658	punct	.,designed
R278	T1513	T1512	amod	part,in
R2780	T9681	T9682	compound	PCR,amplification
R2781	T9682	T9683	nsubjpass	amplification,performed
R2782	T9684	T9682	prep	of,amplification
R2783	T9685	T9686	det	each,exon
R2784	T9686	T9684	pobj	exon,of
R2785	T9687	T9683	auxpass	was,performed
R2786	T9688	T9683	advcl	using,performed
R2787	T9689	T9688	dobj	DNA,using
R2788	T9690	T9689	prep	from,DNA
R2789	T9691	T9692	nummod	two,mice
R279	T1514	T1505	prep	by,carried
R2790	T9692	T9690	pobj	mice,from
R2791	T9693	T9692	amod	affected,mice
R2792	T9694	T9688	prep	as,using
R2793	T9695	T9694	pobj	templates,as
R2794	T9696	T9683	punct	.,performed
R2795	T9698	T9699	det	The,mutation
R2796	T9699	T9703	nsubjpass	mutation,confirmed
R2797	T9700	T9701	compound	Itpr1Δ18,Δ18
R2798	T9701	T9699	compound	Δ18,mutation
R2799	T9702	T9701	punct	/,Δ18
R28	T902	T889	punct	.,observed
R280	T1515	T1516	det	the,investigation
R2800	T9704	T9703	auxpass	was,confirmed
R2801	T9705	T9703	prep	by,confirmed
R2802	T9706	T9705	pobj	sequencing,by
R2803	T9707	T9703	prep	in,confirmed
R2804	T9708	T9709	det	all,mice
R2805	T9709	T9707	pobj	mice,in
R2806	T9710	T9709	amod	affected,mice
R2807	T9711	T9712	punct	(,S2
R2808	T9712	T9703	parataxis	S2,confirmed
R2809	T9713	T9712	compound	Figure,S2
R281	T1516	T1514	pobj	investigation,by
R2810	T9714	T9712	punct	),S2
R2811	T9715	T9703	punct	.,confirmed
R2812	T9717	T9718	amod	Breeding,experiments
R2813	T9718	T9719	nsubjpass	experiments,performed
R2814	T9720	T9719	auxpass	were,performed
R2815	T9721	T9719	prep	between,performed
R2816	T9722	T9723	nummod	two,mice
R2817	T9723	T9721	pobj	mice,between
R2818	T9724	T9723	amod	female,mice
R2819	T9725	T9723	amod	heterozygous,mice
R282	T1517	T1516	prep	of,investigation
R2820	T9726	T9725	prep	for,heterozygous
R2821	T9727	T9728	det	the,mutation
R2822	T9728	T9726	pobj	mutation,for
R2823	T9729	T9728	amod	current,mutation
R2824	T9730	T9731	punct	(,Δ18
R2825	T9731	T9728	parataxis	Δ18,mutation
R2826	T9732	T9731	compound	Itpr1wt,Δ18
R2827	T9733	T9731	punct	/,Δ18
R2828	T9734	T9731	punct	),Δ18
R2829	T9735	T9723	cc	and,mice
R283	T1518	T1519	amod	spontaneous,mutations
R2830	T9736	T9737	det	a,mouse
R2831	T9737	T9723	conj	mouse,mice
R2832	T9738	T9737	amod	male,mouse
R2833	T9739	T9737	amod	heterozygous,mouse
R2834	T9740	T9739	prep	for,heterozygous
R2835	T9741	T9742	det	the,mutation
R2836	T9742	T9740	pobj	mutation,for
R2837	T9743	T9742	compound	Itpr1opt,mutation
R2838	T9744	T9745	punct	(,opt
R2839	T9745	T9742	parataxis	opt,mutation
R284	T1519	T1517	pobj	mutations,of
R2840	T9746	T9745	compound	Itpr1wt,opt
R2841	T9747	T9745	punct	/,opt
R2842	T9748	T9745	punct	),opt
R2843	T9749	T9719	punct	.,performed
R2844	T9751	T9752	nsubj	This,resulted
R2845	T9753	T9752	prep	in,resulted
R2846	T9754	T9755	nummod	two,litters
R2847	T9755	T9753	pobj	litters,in
R2848	T9756	T9755	prep	of,litters
R2849	T9757	T9756	pobj	mice,of
R285	T1520	T1521	dep	that,cause
R2850	T9758	T9755	prep	with,litters
R2851	T9759	T9760	det	a,total
R2852	T9760	T9758	pobj	total,with
R2853	T9761	T9760	prep	of,total
R2854	T9762	T9763	nummod	four,pups
R2855	T9763	T9761	pobj	pups,of
R2856	T9764	T9763	amod	affected,pups
R2857	T9765	T9766	compound	Itpr1opt,Δ18
R2858	T9766	T9763	compound	Δ18,pups
R2859	T9767	T9766	punct	/,Δ18
R286	T1521	T1519	relcl	cause,mutations
R2860	T9768	T9769	punct	(,eight
R2861	T9769	T9763	parataxis	eight,pups
R2862	T9770	T9769	prep	from,eight
R2863	T9771	T9772	det	a,total
R2864	T9772	T9770	pobj	total,from
R2865	T9773	T9772	prep	of,total
R2866	T9774	T9773	pobj	15,of
R2867	T9775	T9769	punct	;,eight
R2868	T9776	T9777	quantmod	two,seven
R2869	T9777	T9769	dep	seven,eight
R287	T1522	T1521	dobj	disorders,cause
R2870	T9778	T9777	quantmod	of,seven
R2871	T9779	T9777	prep	from,seven
R2872	T9780	T9781	amod	first,mating
R2873	T9781	T9779	pobj	mating,from
R2874	T9782	T9769	punct	;,eight
R2875	T9783	T9769	quantmod	two,eight
R2876	T9784	T9769	quantmod	of,eight
R2877	T9785	T9769	prep	from,eight
R2878	T9786	T9787	det	the,mating
R2879	T9787	T9785	pobj	mating,from
R288	T1523	T1521	prep	in,cause
R2880	T9788	T9787	amod	second,mating
R2881	T9789	T9769	punct	),eight
R2882	T9790	T9763	prep	with,pups
R2883	T9791	T9792	det	a,phenotype
R2884	T9792	T9790	pobj	phenotype,with
R2885	T9793	T9792	amod	indistinguishable,phenotype
R2886	T9794	T9793	prep	from,indistinguishable
R2887	T9795	T9794	pobj	that,from
R2888	T9796	T9795	prep	of,that
R2889	T9797	T9798	det	the,mice
R289	T1524	T1525	compound	mouse,colonies
R2890	T9798	T9796	pobj	mice,of
R2891	T9799	T9800	nmod	Itpr1Δ18,Δ18
R2892	T9800	T9798	nmod	Δ18,mice
R2893	T9801	T9800	punct	/,Δ18
R2894	T9802	T9800	cc	and,Δ18
R2895	T9803	T9804	compound	Itpr1opt,opt
R2896	T9804	T9800	conj	opt,Δ18
R2897	T9805	T9804	punct	/,opt
R2898	T9806	T9752	punct	.,resulted
R2899	T10117	T10116	prep	of,Analysis
R29	T904	T905	nsubj	We,pursued
R290	T1525	T1523	pobj	colonies,in
R2900	T10118	T10119	compound	Itpr1,protein
R2901	T10119	T10117	pobj	protein,of
R2902	T10120	T10119	prep	in,protein
R2903	T10121	T10120	pobj	mice,in
R2904	T10122	T10116	punct	.,Analysis
R2905	T10124	T10125	nsubj	We,performed
R2906	T10126	T10127	compound	Western,blot
R2907	T10127	T10128	compound	blot,analyses
R2908	T10128	T10125	dobj	analyses,performed
R2909	T10129	T10125	advcl	using,performed
R291	T1526	T1525	compound	breeding,colonies
R2910	T10130	T10131	amod	standard,techniques
R2911	T10131	T10129	dobj	techniques,using
R2912	T10132	T10125	prep	with,performed
R2913	T10133	T10134	compound	ECL,kits
R2914	T10134	T10132	pobj	kits,with
R2915	T10135	T10134	compound	detection,kits
R2916	T10136	T10137	punct	(,Amersham
R2917	T10137	T10134	parataxis	Amersham,kits
R2918	T10138	T10137	punct	", ",Amersham
R2919	T10139	T10137	npadvmod	http://www.amersham.com,Amersham
R292	T1527	T1505	punct	.,carried
R2920	T10140	T10137	punct	),Amersham
R2921	T10141	T10125	punct	.,performed
R2922	T10143	T10144	advmod	Briefly,homogenized
R2923	T10145	T10144	punct	", ",homogenized
R2924	T10146	T10147	amod	dissected,brains
R2925	T10147	T10144	nsubjpass	brains,homogenized
R2926	T10148	T10147	amod	whole,brains
R2927	T10149	T10147	prep	from,brains
R2928	T10150	T10151	amod	postnatal,day
R2929	T10151	T10152	nmod	day,littermates
R293	T1529	T1530	amod	Careful,observation
R2930	T10152	T10149	pobj	littermates,from
R2931	T10153	T10151	nummod	21,day
R2932	T10154	T10144	auxpass	were,homogenized
R2933	T10155	T10144	prep	in,homogenized
R2934	T10156	T10157	det	a,buffer
R2935	T10157	T10155	pobj	buffer,in
R2936	T10158	T10157	acl	containing,buffer
R2937	T10159	T10160	nummod	50,mM
R2938	T10160	T10161	compound	mM,HCl
R2939	T10161	T10158	dobj	HCl,containing
R294	T1530	T1531	nsubj	observation,led
R2940	T10162	T10161	compound	Tris,HCl
R2941	T10163	T10161	punct	-,HCl
R2942	T10164	T10161	punct	", ",HCl
R2943	T10165	T10166	nummod	150,mM
R2944	T10166	T10167	compound	mM,NaCl
R2945	T10167	T10161	conj	NaCl,HCl
R2946	T10168	T10167	punct	", ",NaCl
R2947	T10169	T10170	nummod	1,mM
R2948	T10170	T10171	compound	mM,EDTA
R2949	T10171	T10167	conj	EDTA,NaCl
R295	T1532	T1530	prep	of,observation
R2950	T10172	T10171	punct	", ",EDTA
R2951	T10173	T10174	nummod	1,%
R2952	T10174	T10175	compound	%,X
R2953	T10175	T10171	conj	X,EDTA
R2954	T10176	T10175	compound	Triton,X
R2955	T10177	T10175	punct	-,X
R2956	T10178	T10175	nummod	100,X
R2957	T10179	T10175	punct	", ",X
R2958	T10180	T10181	nummod	1,%
R2959	T10181	T10182	compound	%,deoxycholate
R296	T1533	T1534	det	these,events
R2960	T10182	T10175	conj	deoxycholate,X
R2961	T10183	T10182	compound	sodium,deoxycholate
R2962	T10184	T10182	punct	", ",deoxycholate
R2963	T10185	T10186	nummod	0.1,%
R2964	T10186	T10187	compound	%,SDS
R2965	T10187	T10182	conj	SDS,deoxycholate
R2966	T10188	T10187	punct	", ",SDS
R2967	T10189	T10187	cc	and,SDS
R2968	T10190	T10191	det	a,cocktail
R2969	T10191	T10187	conj	cocktail,SDS
R297	T1534	T1532	pobj	events,of
R2970	T10192	T10191	prep	of,cocktail
R2971	T10193	T10194	compound	protease,inhibitors
R2972	T10194	T10192	pobj	inhibitors,of
R2973	T10195	T10196	punct	(,Roche
R2974	T10196	T10191	parataxis	Roche,cocktail
R2975	T10197	T10196	punct	", ",Roche
R2976	T10198	T10196	npadvmod	http://www.roche.com,Roche
R2977	T10199	T10196	punct	),Roche
R2978	T10200	T10144	punct	.,homogenized
R2979	T10202	T10203	nsubjpass	Homogenates,diluted
R298	T1535	T1534	amod	serendipitous,events
R2980	T10204	T10203	auxpass	were,diluted
R2981	T10205	T10203	advmod	appropriately,diluted
R2982	T10206	T10203	punct	", ",diluted
R2983	T10207	T10203	conj	mixed,diluted
R2984	T10208	T10207	prep	with,mixed
R2985	T10209	T10210	nummod	4,buffer
R2986	T10210	T10208	pobj	buffer,with
R2987	T10211	T10209	punct	×,4
R2988	T10212	T10210	amod	reducing,buffer
R2989	T10213	T10210	compound	sample,buffer
R299	T1536	T1531	aux	has,led
R2990	T10214	T10207	punct	", ",mixed
R2991	T10215	T10207	cc	and,mixed
R2992	T10216	T10207	conj	loaded,mixed
R2993	T10217	T10216	prep	onto,loaded
R2994	T10218	T10219	nummod	4,%
R2995	T10219	T10220	nmod	%,gels
R2996	T10220	T10217	pobj	gels,onto
R2997	T10221	T10222	punct	–,%
R2998	T10222	T10219	prep	%,%
R2999	T10223	T10222	nummod	12,%
R3	T871	T872	nsubj	Deletion,Underlies
R30	T906	T907	det	a,series
R300	T1537	T1531	prep	to,led
R3000	T10224	T10220	compound	precast,gels
R3001	T10225	T10220	compound	gradient,gels
R3002	T10226	T10227	punct	(,Novex
R3003	T10227	T10220	parataxis	Novex,gels
R3004	T10228	T10227	punct	", ",Novex
R3005	T10229	T10227	npadvmod	http://www.invitrogen.com,Novex
R3006	T10230	T10227	punct	),Novex
R3007	T10231	T10216	prep	for,loaded
R3008	T10232	T10233	compound	SDS,PAGE
R3009	T10233	T10231	pobj	PAGE,for
R301	T1538	T1539	det	the,establishment
R3010	T10234	T10233	punct	-,PAGE
R3011	T10235	T10233	cc	and,PAGE
R3012	T10236	T10233	conj	immunoblotting,PAGE
R3013	T10237	T10203	punct	.,diluted
R3014	T10239	T10240	det	The,antibodies
R3015	T10240	T10241	nsubjpass	antibodies,used
R3016	T10242	T10240	prep	to,antibodies
R3017	T10243	T10242	pobj	Itpr1,to
R3018	T10244	T10245	punct	(,1
R3019	T10245	T10243	parataxis	1,Itpr1
R302	T1539	T1537	pobj	establishment,to
R3020	T10246	T10247	punct	:,"2,000"
R3021	T10247	T10245	prep	"2,000",1
R3022	T10248	T10245	punct	),1
R3023	T10249	T10243	cc	and,Itpr1
R3024	T10250	T10243	conj	Actb,Itpr1
R3025	T10251	T10252	punct	(,1
R3026	T10252	T10250	parataxis	1,Actb
R3027	T10253	T10254	punct	:,"5,000"
R3028	T10254	T10252	prep	"5,000",1
R3029	T10255	T10252	punct	),1
R303	T1540	T1539	cc	and,establishment
R3030	T10256	T10241	auxpass	were,used
R3031	T10257	T10258	mark	as,recommended
R3032	T10258	T10241	advcl	recommended,used
R3033	T10259	T10258	agent	by,recommended
R3034	T10260	T10259	pobj	manufacturers,by
R3035	T10261	T10241	punct	.,used
R3036	T10936	T10935	punct	.,Immunohistochemistry
R3037	T10938	T10939	nsubjpass	Brains,isolated
R3038	T10940	T10939	auxpass	were,isolated
R3039	T10941	T10939	prep	from,isolated
R304	T1541	T1539	conj	study,establishment
R3040	T10942	T10943	nummod	21,d
R3041	T10943	T10945	npadvmod	d,old
R3042	T10944	T10943	punct	-,d
R3043	T10945	T10947	amod	old,mice
R3044	T10946	T10945	punct	-,old
R3045	T10947	T10941	pobj	mice,from
R3046	T10948	T10939	punct	", ",isolated
R3047	T10949	T10939	conj	perfused,isolated
R3048	T10950	T10949	prep	with,perfused
R3049	T10951	T10952	nummod	4,%
R305	T1542	T1539	prep	of,establishment
R3050	T10952	T10953	compound	%,paraformaldehyde
R3051	T10953	T10950	pobj	paraformaldehyde,with
R3052	T10954	T10953	prep	in,paraformaldehyde
R3053	T10955	T10954	pobj	PBS,in
R3054	T10956	T10949	punct	", ",perfused
R3055	T10957	T10949	cc	and,perfused
R3056	T10958	T10949	conj	post-fixed,perfused
R3057	T10959	T10958	advmod	overnight,post-fixed
R3058	T10960	T10958	prep	in,post-fixed
R3059	T10961	T10962	det	the,fixative
R306	T1543	T1544	amod	many,models
R3060	T10962	T10960	pobj	fixative,in
R3061	T10963	T10962	amod	same,fixative
R3062	T10964	T10939	punct	.,isolated
R3063	T10966	T10967	nsubjpass	Brains,embedded
R3064	T10968	T10967	auxpass	were,embedded
R3065	T10969	T10967	prep	in,embedded
R3066	T10970	T10969	pobj	gelatin,in
R3067	T10971	T10967	punct	", ",embedded
R3068	T10972	T10967	cc	and,embedded
R3069	T10973	T10974	nummod	35,μm
R307	T1544	T1542	pobj	models,of
R3070	T10974	T10976	nmod	μm,sections
R3071	T10975	T10974	punct	-,μm
R3072	T10976	T10978	nsubjpass	sections,cut
R3073	T10977	T10976	amod	sagittal,sections
R3074	T10978	T10967	conj	cut,embedded
R3075	T10979	T10978	auxpass	were,cut
R3076	T10980	T10978	advcl	using,cut
R3077	T10981	T10982	det	a,microtome
R3078	T10982	T10980	dobj	microtome,using
R3079	T10983	T10982	amod	sliding,microtome
R308	T1545	T1546	advmod	in,vivo
R3080	T10984	T10985	punct	(,Associates
R3081	T10985	T10982	parataxis	Associates,microtome
R3082	T10986	T10985	compound	NeuroScience,Associates
R3083	T10987	T10985	punct	", ",Associates
R3084	T10988	T10985	npadvmod	http://www.neuroscienceassociates.com,Associates
R3085	T10989	T10985	punct	),Associates
R3086	T10990	T10978	punct	.,cut
R3087	T10992	T10993	nsubjpass	Sections,placed
R3088	T10994	T10992	prep	from,Sections
R3089	T10995	T10996	amod	wild,type
R309	T1546	T1544	amod	vivo,models
R3090	T10996	T10998	nmod	type,brains
R3091	T10997	T10996	punct	-,type
R3092	T10998	T10994	pobj	brains,from
R3093	T10999	T10996	punct	", ",type
R3094	T11000	T10996	conj	heterozygote,type
R3095	T11001	T11000	punct	", ",heterozygote
R3096	T11002	T11000	cc	and,heterozygote
R3097	T11003	T11000	conj	homozygous,heterozygote
R3098	T11004	T10993	auxpass	were,placed
R3099	T11005	T10993	prep	in,placed
R31	T907	T905	dobj	series,pursued
R310	T1547	T1544	compound	disease,models
R3100	T11006	T11007	det	the,template
R3101	T11007	T11005	pobj	template,in
R3102	T11008	T11007	compound	MultiBrain,template
R3103	T11009	T10993	punct	.,placed
R3104	T11011	T11012	nsubjpass	Sections,washed
R3105	T11013	T11012	auxpass	were,washed
R3106	T11014	T11012	prep	in,washed
R3107	T11015	T11016	nummod	1,PBS
R3108	T11016	T11014	pobj	PBS,in
R3109	T11017	T11015	punct	×,1
R311	T1548	T1549	punct	[,3
R3110	T11018	T11019	advmod	prior,to
R3111	T11019	T11012	prep	to,washed
R3112	T11020	T11021	nummod	1,h
R3113	T11021	T11019	pobj	h,to
R3114	T11022	T11021	prep	of,h
R3115	T11023	T11022	pobj	incubation,of
R3116	T11024	T11023	prep	in,incubation
R3117	T11025	T11026	compound	block,solution
R3118	T11026	T11024	pobj	solution,in
R3119	T11027	T11026	acl	containing,solution
R312	T1549	T1531	parataxis	3,led
R3120	T11028	T11029	nummod	1,PBS
R3121	T11029	T11027	dobj	PBS,containing
R3122	T11030	T11028	punct	×,1
R3123	T11031	T11029	prep	with,PBS
R3124	T11032	T11033	nummod	20,%
R3125	T11033	T11034	nmod	%,serum
R3126	T11034	T11031	pobj	serum,with
R3127	T11035	T11034	amod	normal,serum
R3128	T11036	T11034	compound	goat,serum
R3129	T11037	T11034	cc	and,serum
R313	T1550	T1549	punct	],3
R3130	T11038	T11039	nummod	0.3,%
R3131	T11039	T11040	compound	%,X
R3132	T11040	T11034	conj	X,serum
R3133	T11041	T11040	compound	Triton,X
R3134	T11042	T11040	punct	-,X
R3135	T11043	T11040	nummod	100,X
R3136	T11044	T11045	punct	(,pH
R3137	T11045	T11040	parataxis	pH,X
R3138	T11046	T11045	nummod	7.4,pH
R3139	T11047	T11045	punct	),pH
R314	T1551	T1531	punct	.,led
R3140	T11048	T11012	punct	.,washed
R3141	T11050	T11051	nsubjpass	Sections,incubated
R3142	T11052	T11051	auxpass	were,incubated
R3143	T11053	T11051	advmod	overnight,incubated
R3144	T11054	T11051	prep	at,incubated
R3145	T11055	T11056	nummod	4,°C
R3146	T11056	T11054	pobj	°C,at
R3147	T11057	T11051	prep	in,incubated
R3148	T11058	T11059	amod	primary,antibodies
R3149	T11059	T11057	pobj	antibodies,in
R315	T1553	T1554	prep	During,noted
R3150	T11060	T11059	punct	: ,antibodies
R3151	T11061	T11062	nmod	affinity,antibody
R3152	T11062	T11059	appos	antibody,antibodies
R3153	T11063	T11062	amod	purified,antibody
R3154	T11064	T11062	amod	polyclonal,antibody
R3155	T11065	T11062	compound	Itpr1,antibody
R3156	T11066	T11067	punct	(,International
R3157	T11067	T11062	parataxis	International,antibody
R3158	T11068	T11067	dep	1,International
R3159	T11069	T11070	punct	:,"2,000"
R316	T1555	T1556	det	the,generation
R3160	T11070	T11068	prep	"2,000",1
R3161	T11071	T11067	punct	", ",International
R3162	T11072	T11067	compound	Chemicon,International
R3163	T11073	T11067	punct	", ",International
R3164	T11074	T11067	npadvmod	http://www.chemicon.com,International
R3165	T11075	T11067	punct	),International
R3166	T11076	T11062	cc	and,antibody
R3167	T11077	T11078	amod	monoclonal,antibody
R3168	T11078	T11062	conj	antibody,antibody
R3169	T11079	T11078	amod	anti-Calb1,antibody
R317	T1556	T1553	pobj	generation,During
R3170	T11080	T11081	punct	(,Aldrich
R3171	T11081	T11078	parataxis	Aldrich,antibody
R3172	T11082	T11081	dep	1,Aldrich
R3173	T11083	T11084	punct	:,"6,000"
R3174	T11084	T11082	prep	"6,000",1
R3175	T11085	T11081	punct	", ",Aldrich
R3176	T11086	T11081	compound	Sigma,Aldrich
R3177	T11087	T11081	punct	-,Aldrich
R3178	T11088	T11081	punct	", ",Aldrich
R3179	T11089	T11081	npadvmod	http://www.sigmaaldrich.com,Aldrich
R318	T1557	T1556	prep	of,generation
R3180	T11090	T11081	punct	),Aldrich
R3181	T11091	T11062	acl	diluted,antibody
R3182	T11092	T11091	prep	in,diluted
R3183	T11093	T11094	compound	carrier,solution
R3184	T11094	T11092	pobj	solution,in
R3185	T11095	T11051	punct	.,incubated
R3186	T11097	T11098	prep	Following,incubated
R3187	T11099	T11100	amod	extensive,washes
R3188	T11100	T11097	pobj	washes,Following
R3189	T11101	T11100	punct	(,washes
R319	T1558	T1559	det	a,line
R3190	T11102	T11100	prep	in,washes
R3191	T11103	T11104	nummod	6.0,ml
R3192	T11104	T11102	pobj	ml,in
R3193	T11105	T11104	prep	of,ml
R3194	T11106	T11105	pobj	PBS,of
R3195	T11107	T11108	punct	", ",times
R3196	T11108	T11100	parataxis	times,washes
R3197	T11109	T11108	nummod	three,times
R3198	T11110	T11108	punct	),times
R3199	T11111	T11098	punct	", ",incubated
R32	T908	T907	prep	of,series
R320	T1559	T1557	pobj	line,of
R3200	T11112	T11098	nsubjpass	sections,incubated
R3201	T11113	T11098	auxpass	were,incubated
R3202	T11114	T11098	prep	with,incubated
R3203	T11115	T11116	amod	appropriate,antibodies
R3204	T11116	T11114	pobj	antibodies,with
R3205	T11117	T11116	amod	secondary,antibodies
R3206	T11118	T11119	punct	(,IgG
R3207	T11119	T11116	parataxis	IgG,antibodies
R3208	T11120	T11121	nmod	Alexa,Fluor
R3209	T11121	T11119	nmod	Fluor,IgG
R321	T1560	T1559	compound	knockout,line
R3210	T11122	T11121	nummod	555,Fluor
R3211	T11123	T11119	nmod	goat,IgG
R3212	T11124	T11119	amod	anti-rabbit,IgG
R3213	T11125	T11119	cc	and,IgG
R3214	T11126	T11127	nmod	Alexa,Fluor
R3215	T11127	T11128	nmod	Fluor,IgG
R3216	T11128	T11119	conj	IgG,IgG
R3217	T11129	T11127	nummod	488,Fluor
R3218	T11130	T11128	nmod	goat,IgG
R3219	T11131	T11128	amod	anti-mouse,IgG
R322	T1561	T1559	prep	of,line
R3220	T11132	T11133	punct	[,Invitrogen
R3221	T11133	T11128	parataxis	Invitrogen,IgG
R3222	T11134	T11133	punct	", ",Invitrogen
R3223	T11135	T11133	npadvmod	http://www.invitrogen.com,Invitrogen
R3224	T11136	T11133	punct	],Invitrogen
R3225	T11137	T11119	punct	),IgG
R3226	T11138	T11098	prep	for,incubated
R3227	T11139	T11140	nummod	1,h
R3228	T11140	T11138	pobj	h,for
R3229	T11141	T11098	prep	at,incubated
R323	T1562	T1561	pobj	mice,of
R3230	T11142	T11143	compound	room,temperature
R3231	T11143	T11141	pobj	temperature,at
R3232	T11144	T11098	punct	.,incubated
R3233	T11146	T11147	nsubjpass	Sections,washed
R3234	T11148	T11147	auxpass	were,washed
R3235	T11149	T11147	cc	and,washed
R3236	T11150	T11147	conj	mounted,washed
R3237	T11151	T11150	prep	on,mounted
R3238	T11152	T11153	compound	glass,slides
R3239	T11153	T11151	pobj	slides,on
R324	T1563	T1554	nsubj	we,noted
R3240	T11154	T11150	prep	in,mounted
R3241	T11155	T11156	det	a,medium
R3242	T11156	T11154	pobj	medium,in
R3243	T11157	T11156	amod	buffered,medium
R3244	T11158	T11156	acl	containing,medium
R3245	T11159	T11158	dobj	Mowiol,containing
R3246	T11160	T11161	punct	(,Calbiochem
R3247	T11161	T11159	parataxis	Calbiochem,Mowiol
R3248	T11162	T11161	punct	", ",Calbiochem
R3249	T11163	T11161	npadvmod	http://www.emdbiosciences.com,Calbiochem
R325	T1564	T1565	det	an,disorder
R3250	T11164	T11161	punct	),Calbiochem
R3251	T11165	T11166	mark	as,described
R3252	T11166	T11150	advcl	described,mounted
R3253	T11167	T11166	advmod	earlier,described
R3254	T11168	T11169	punct	[,14
R3255	T11169	T11150	parataxis	14,mounted
R3256	T11170	T11169	punct	],14
R3257	T11171	T11147	punct	.,washed
R3258	T11173	T11174	nsubjpass	Sections,imaged
R3259	T11175	T11174	auxpass	were,imaged
R326	T1565	T1554	dobj	disorder,noted
R3260	T11176	T11174	advcl	using,imaged
R3261	T11177	T11178	det	a,microscope
R3262	T11178	T11176	dobj	microscope,using
R3263	T11179	T11178	nmod	laser,microscope
R3264	T11180	T11178	amod	scanning,microscope
R3265	T11181	T11178	amod	confocal,microscope
R3266	T11182	T11183	punct	(,Zeiss
R3267	T11183	T11178	parataxis	Zeiss,microscope
R3268	T11184	T11183	dep	LSM,Zeiss
R3269	T11185	T11184	nummod	510,LSM
R327	T1566	T1565	amod	early,disorder
R3270	T11186	T11183	punct	;,Zeiss
R3271	T11187	T11183	punct	", ",Zeiss
R3272	T11188	T11183	npadvmod	http://www.zeiss.com,Zeiss
R3273	T11189	T11183	punct	),Zeiss
R3274	T11190	T11174	punct	.,imaged
R3275	T11192	T11193	compound	Imaging,parameters
R3276	T11193	T11194	nsubjpass	parameters,optimized
R3277	T11195	T11196	punct	(,pinhole
R3278	T11196	T11193	parataxis	pinhole,parameters
R3279	T11197	T11196	punct	", ",pinhole
R328	T1567	T1565	compound	movement,disorder
R3280	T11198	T11199	compound	detector,gain
R3281	T11199	T11196	appos	gain,pinhole
R3282	T11200	T11196	punct	", ",pinhole
R3283	T11201	T11202	compound	laser,power
R3284	T11202	T11196	appos	power,pinhole
R3285	T11203	T11196	punct	),pinhole
R3286	T11204	T11194	auxpass	were,optimized
R3287	T11205	T11194	punct	", ",optimized
R3288	T11206	T11194	cc	and,optimized
R3289	T11207	T11208	auxpass	were,kept
R329	T1568	T1569	dep	that,inherited
R3290	T11208	T11194	conj	kept,optimized
R3291	T11209	T11208	oprd	constant,kept
R3292	T11210	T11208	prep	for,kept
R3293	T11211	T11212	det	the,brains
R3294	T11212	T11210	pobj	brains,for
R3295	T11213	T11214	amod	wild,type
R3296	T11214	T11212	nmod	type,brains
R3297	T11215	T11214	punct	-,type
R3298	T11216	T11214	punct	", ",type
R3299	T11217	T11214	conj	heterozygous,type
R33	T909	T908	pobj	experiments,of
R330	T1569	T1565	relcl	inherited,disorder
R3300	T11218	T11217	punct	", ",heterozygous
R3301	T11219	T11217	cc	and,heterozygous
R3302	T11220	T11217	conj	homozygous,heterozygous
R3303	T11221	T11212	compound	mutant,brains
R3304	T11222	T11194	punct	.,optimized
R3305	T11224	T11225	nsubjpass	Specificity,verified
R3306	T11226	T11224	prep	of,Specificity
R3307	T11227	T11228	det	the,antibodies
R3308	T11228	T11226	pobj	antibodies,of
R3309	T11229	T11228	compound	Itpr1,antibodies
R331	T1570	T1569	auxpass	was,inherited
R3310	T11230	T11225	auxpass	was,verified
R3311	T11231	T11225	prep	by,verified
R3312	T11232	T11233	compound	preabsorption,experiments
R3313	T11233	T11231	pobj	experiments,by
R3314	T11234	T11233	compound	control,experiments
R3315	T11235	T11225	punct	.,verified
R3316	T11237	T11238	compound	Antibody,dilutions
R3317	T11238	T11239	nsubjpass	dilutions,incubated
R3318	T11240	T11239	auxpass	were,incubated
R3319	T11241	T11239	prep	for,incubated
R332	T1571	T1569	advmod	independently,inherited
R3320	T11242	T11243	nummod	24,h
R3321	T11243	T11241	pobj	h,for
R3322	T11244	T11239	prep	at,incubated
R3323	T11245	T11246	nummod	4,°C
R3324	T11246	T11244	pobj	°C,at
R3325	T11247	T11239	prep	with,incubated
R3326	T11248	T11249	det	the,peptide
R3327	T11249	T11247	pobj	peptide,with
R3328	T11250	T11249	amod	immunizing,peptide
R3329	T11251	T11239	punct	.,incubated
R333	T1572	T1571	prep	of,independently
R3330	T11253	T11254	compound	Tissue,sections
R3331	T11254	T11255	nsubjpass	sections,incubated
R3332	T11256	T11255	auxpass	were,incubated
R3333	T11257	T11255	prep	with,incubated
R3334	T11258	T11259	det	the,antibodies
R3335	T11259	T11257	pobj	antibodies,with
R3336	T11260	T11259	amod	preabsorbed,antibodies
R3337	T11261	T11255	cc	and,incubated
R3338	T11262	T11255	conj	processed,incubated
R3339	T11263	T11264	mark	as,described
R334	T1573	T1574	amod	targeting,vector
R3340	T11264	T11262	advcl	described,processed
R3341	T11265	T11264	advmod	above,described
R3342	T11266	T11255	punct	.,incubated
R3343	T11268	T11269	prep	Under,detected
R3344	T11270	T11271	det	these,conditions
R3345	T11271	T11268	pobj	conditions,Under
R3346	T11272	T11269	punct	", ",detected
R3347	T11273	T11274	det	no,staining
R3348	T11274	T11269	nsubjpass	staining,detected
R3349	T11275	T11274	prep	above,staining
R335	T1574	T1575	compound	vector,transmission
R3350	T11276	T11275	pobj	autofluorescence,above
R3351	T11277	T11269	auxpass	was,detected
R3352	T11278	T11269	punct	.,detected
R3355	T12756	T12755	prep	of,Analysis
R3356	T12757	T12756	pobj	ITPR1,of
R3357	T12758	T12757	prep	in,ITPR1
R3358	T12759	T12760	compound	SCA15,patients
R3359	T12760	T12758	pobj	patients,in
R336	T1575	T1572	pobj	transmission,of
R3360	T12761	T12755	punct	.,Analysis
R3361	T12763	T12764	nsubjpass	DNA,extracted
R3362	T12765	T12764	auxpass	was,extracted
R3363	T12766	T12764	prep	from,extracted
R3364	T12767	T12768	nmod	EBV,lymphocytes
R3365	T12768	T12766	pobj	lymphocytes,from
R3366	T12769	T12768	amod	immortalized,lymphocytes
R3367	T12770	T12768	punct	", ",lymphocytes
R3368	T12771	T12768	acl	derived,lymphocytes
R3369	T12772	T12771	prep	from,derived
R337	T1576	T1554	punct	.,noted
R3370	T12773	T12774	compound	family,members
R3371	T12774	T12772	pobj	members,from
R3372	T12775	T12764	punct	.,extracted
R3373	T12777	T12778	det	The,exons
R3374	T12778	T12780	nsubjpass	exons,amplified
R3375	T12779	T12778	amod	coding,exons
R3376	T12781	T12778	cc	and,exons
R3377	T12782	T12783	advmod	at,50
R3378	T12783	T12785	nummod	50,bp
R3379	T12784	T12783	advmod	least,50
R338	T1578	T1579	nsubj	We,embarked
R3380	T12785	T12778	conj	bp,exons
R3381	T12786	T12785	prep	of,bp
R3382	T12787	T12788	amod	flanking,introns
R3383	T12788	T12786	pobj	introns,of
R3384	T12789	T12788	prep	of,introns
R3385	T12790	T12789	pobj	ITPR1,of
R3386	T12791	T12780	auxpass	were,amplified
R3387	T12792	T12780	dep	PCR,amplified
R3388	T12793	T12780	cc	and,amplified
R3389	T12794	T12780	conj	sequenced,amplified
R339	T1580	T1579	prep	on,embarked
R3390	T12795	T12794	advcl	using,sequenced
R3391	T12796	T12797	compound	dye,terminator
R3392	T12797	T12799	compound	terminator,sequencing
R3393	T12798	T12797	punct	-,terminator
R3394	T12799	T12795	dobj	sequencing,using
R3395	T12800	T12801	punct	(,Biosystems
R3396	T12801	T12799	parataxis	Biosystems,sequencing
R3397	T12802	T12803	compound	BigDye,version
R3398	T12803	T12801	dep	version,Biosystems
R3399	T12804	T12803	nummod	3.1,version
R34	T910	T911	aux	to,define
R340	T1581	T1582	det	a,series
R3400	T12805	T12801	punct	;,Biosystems
R3401	T12806	T12801	compound	Applied,Biosystems
R3402	T12807	T12801	punct	", ",Biosystems
R3403	T12808	T12801	npadvmod	http://www.appliedbiosystems.com,Biosystems
R3404	T12809	T12801	punct	),Biosystems
R3405	T12810	T12780	punct	.,amplified
R3406	T12812	T12813	compound	Sequence,reactions
R3407	T12813	T12814	nsubjpass	reactions,run
R3408	T12815	T12814	auxpass	were,run
R3409	T12816	T12814	prep	on,run
R341	T1582	T1580	pobj	series,on
R3410	T12817	T12818	det	an,sequencer
R3411	T12818	T12816	pobj	sequencer,on
R3412	T12819	T12818	nmod	ABI3730XP,sequencer
R3413	T12820	T12818	amod	automated,sequencer
R3414	T12821	T12814	prep	as,run
R3415	T12822	T12821	prep	per,as
R3416	T12823	T12824	det	the,manufacturer
R3417	T12824	T12825	poss	manufacturer,instructions
R3418	T12825	T12822	pobj	instructions,per
R3419	T12826	T12824	case	's,manufacturer
R342	T1583	T1582	prep	of,series
R3420	T12827	T12828	punct	(,Biosystems
R3421	T12828	T12825	parataxis	Biosystems,instructions
R3422	T12829	T12828	compound	Applied,Biosystems
R3423	T12830	T12828	punct	),Biosystems
R3424	T12831	T12814	punct	.,run
R3425	T12833	T12834	det	This,analysis
R3426	T12834	T12835	nsubjpass	analysis,performed
R3427	T12836	T12835	auxpass	was,performed
R3428	T12837	T12835	prep	in,performed
R3429	T12838	T12839	det	all,members
R343	T1584	T1583	pobj	experiments,of
R3430	T12839	T12837	pobj	members,in
R3431	T12840	T12839	nummod	three,members
R3432	T12841	T12839	amod	affected,members
R3433	T12842	T12839	compound	family,members
R3434	T12843	T12844	prep	for,was
R3435	T12844	T12839	relcl	was,members
R3436	T12845	T12843	pobj	whom,for
R3437	T12846	T12847	amod	genomic,DNA
R3438	T12847	T12844	nsubj	DNA,was
R3439	T12848	T12844	acomp	available,was
R344	T1585	T1586	aux	to,identify
R3440	T12849	T12850	punct	(,6
R3441	T12850	T12839	parataxis	6,members
R3442	T12851	T12850	nmod	members,6
R3443	T12852	T12850	punct	", ",6
R3444	T12853	T12850	conj	7,6
R3445	T12854	T12853	punct	", ",7
R3446	T12855	T12853	cc	and,7
R3447	T12856	T12853	conj	19,7
R3448	T12857	T12850	punct	),6
R3449	T12858	T12835	punct	.,performed
R345	T1586	T1579	advcl	identify,embarked
R3450	T12860	T12861	compound	Primer,sequences
R3451	T12861	T12862	nsubj	sequences,are
R3452	T12863	T12861	cc	and,sequences
R3453	T12864	T12861	conj	conditions,sequences
R3454	T12865	T12862	acomp	available,are
R3455	T12866	T12862	prep	upon,are
R3456	T12867	T12866	pobj	request,upon
R3457	T12868	T12862	punct	.,are
R3458	T12870	T12871	compound	Sequence,data
R3459	T12871	T12872	nsubjpass	data,analyzed
R346	T1587	T1588	det	the,lesion
R3460	T12873	T12872	auxpass	were,analyzed
R3461	T12874	T12872	advcl	using,analyzed
R3462	T12875	T12874	dobj	Sequencher,using
R3463	T12876	T12877	punct	(,Corporation
R3464	T12877	T12875	parataxis	Corporation,Sequencher
R3465	T12878	T12879	compound	Gene,Codes
R3466	T12879	T12877	compound	Codes,Corporation
R3467	T12880	T12877	punct	", ",Corporation
R3468	T12881	T12877	npadvmod	http://www.genecodes.com,Corporation
R3469	T12882	T12877	punct	),Corporation
R347	T1588	T1586	dobj	lesion,identify
R3470	T12883	T12872	punct	.,analyzed
R3471	T12885	T12886	npadvmod	Genome,wide
R3472	T12886	T12888	amod	wide,genotyping
R3473	T12887	T12886	punct	-,wide
R3474	T12888	T12890	nsubjpass	genotyping,performed
R3475	T12889	T12888	compound	SNP,genotyping
R3476	T12891	T12890	auxpass	was,performed
R3477	T12892	T12890	advcl	using,performed
R3478	T12893	T12894	compound	Infinium,SNP
R3479	T12894	T12896	compound	SNP,chips
R348	T1589	T1588	amod	genetic,lesion
R3480	T12895	T12894	compound	HumanHap550,SNP
R3481	T12896	T12892	dobj	chips,using
R3482	T12897	T12896	compound	genotyping,chips
R3483	T12898	T12892	prep	as,using
R3484	T12899	T12898	prep	per,as
R3485	T12900	T12901	det	the,manufacturer
R3486	T12901	T12902	poss	manufacturer,protocol
R3487	T12902	T12899	pobj	protocol,per
R3488	T12903	T12901	case	's,manufacturer
R3489	T12904	T12905	punct	(,Illumina
R349	T1590	T1588	acl	underlying,lesion
R3490	T12905	T12902	parataxis	Illumina,protocol
R3491	T12906	T12905	punct	", ",Illumina
R3492	T12907	T12905	npadvmod	http://www.illumina.com,Illumina
R3493	T12908	T12905	punct	),Illumina
R3494	T12909	T12890	punct	.,performed
R3495	T12911	T12912	det	This,product
R3496	T12912	T12913	nsubj	product,assays
R3497	T12914	T12915	nummod	"555,352",SNPs
R3498	T12915	T12913	dobj	SNPs,assays
R3499	T12916	T12915	amod	unique,SNPs
R35	T911	T905	advcl	define,pursued
R350	T1591	T1592	det	this,disorder
R3500	T12917	T12913	punct	.,assays
R3501	T12919	T12920	nsubjpass	Data,collected
R3502	T12921	T12920	auxpass	were,collected
R3503	T12922	T12920	advcl	using,collected
R3504	T12923	T12924	det	the,scanner
R3505	T12924	T12922	dobj	scanner,using
R3506	T12925	T12926	compound	Illumina,BeadStation
R3507	T12926	T12924	compound	BeadStation,scanner
R3508	T12927	T12924	cc	and,scanner
R3509	T12928	T12929	compound	data,collection
R351	T1592	T1590	dobj	disorder,underlying
R3510	T12929	T12930	compound	collection,software
R3511	T12930	T12924	conj	software,scanner
R3512	T12931	T12920	punct	.,collected
R3513	T12933	T12934	nsubjpass	Genotypes,produced
R3514	T12935	T12934	auxpass	were,produced
R3515	T12936	T12934	advcl	using,produced
R3516	T12937	T12938	det	the,module
R3517	T12938	T12936	dobj	module,using
R3518	T12939	T12938	compound	genotyping,module
R3519	T12940	T12938	prep	of,module
R352	T1593	T1592	compound	movement,disorder
R3520	T12941	T12940	pobj	BeadStudio,of
R3521	T12942	T12943	punct	(,version
R3522	T12943	T12941	parataxis	version,BeadStudio
R3523	T12944	T12943	nummod	2.3.25,version
R3524	T12945	T12943	punct	;,version
R3525	T12946	T12943	appos	Illumina,version
R3526	T12947	T12943	punct	),version
R3527	T12948	T12934	punct	", ",produced
R3528	T12949	T12934	cc	and,produced
R3529	T12950	T12951	compound	log,R
R353	T1594	T1586	cc	and,identify
R3530	T12951	T12952	compound	R,ratio
R3531	T12952	T12953	nsubjpass	ratio,visualized
R3532	T12953	T12934	conj	visualized,produced
R3533	T12954	T12952	cc	and,ratio
R3534	T12955	T12956	compound	B,allele
R3535	T12956	T12957	compound	allele,frequency
R3536	T12957	T12952	conj	frequency,ratio
R3537	T12958	T12953	auxpass	were,visualized
R3538	T12959	T12953	advcl	using,visualized
R3539	T12960	T12961	det	the,tool
R354	T1595	T1596	aux	to,identify
R3540	T12961	T12959	dobj	tool,using
R3541	T12962	T12961	nmod	genome,tool
R3542	T12963	T12962	amod	viewer,genome
R3543	T12964	T12961	prep	within,tool
R3544	T12965	T12966	det	this,package
R3545	T12966	T12964	pobj	package,within
R3546	T12967	T12953	punct	.,visualized
R3547	T12969	T12970	prep	In,examined
R3548	T12971	T12969	pobj	order,In
R3549	T12972	T12973	aux	to,rule
R355	T1596	T1586	conj	identify,identify
R3550	T12973	T12971	acl	rule,order
R3551	T12974	T12973	prt	out,rule
R3552	T12975	T12976	det	the,possibility
R3553	T12976	T12973	dobj	possibility,rule
R3554	T12977	T12978	mark	that,was
R3555	T12978	T12976	acl	was,possibility
R3556	T12979	T12980	det	the,deletion
R3557	T12980	T12978	nsubj	deletion,was
R3558	T12981	T12980	amod	observed,deletion
R3559	T12982	T12980	prep	within,deletion
R356	T1597	T1598	det	a,disease
R3560	T12983	T12982	pobj	ITPR1,within
R3561	T12984	T12985	det	a,variant
R3562	T12985	T12978	attr	variant,was
R3563	T12986	T12985	amod	benign,variant
R3564	T12987	T12985	compound	copy,variant
R3565	T12988	T12985	compound	number,variant
R3566	T12989	T12970	nsubj	we,examined
R3567	T12990	T12991	nmod	log,R
R3568	T12991	T12992	nmod	R,ratio
R3569	T12992	T12993	nmod	ratio,metrics
R357	T1598	T1596	dobj	disease,identify
R3570	T12993	T12970	dobj	metrics,examined
R3571	T12994	T12992	cc	and,ratio
R3572	T12995	T12996	compound	B,allele
R3573	T12996	T12997	compound	allele,frequency
R3574	T12997	T12992	conj	frequency,ratio
R3575	T12998	T12993	prep	of,metrics
R3576	T12999	T13000	compound	HumanHap550,data
R3577	T13000	T12998	pobj	data,of
R3578	T13001	T13000	compound	genotyping,data
R3579	T13002	T13000	prep	at,data
R358	T1599	T1598	amod	cognate,disease
R3580	T13003	T13004	det	this,locus
R3581	T13004	T13002	pobj	locus,at
R3582	T13005	T13000	prep	from,data
R3583	T13006	T13007	nummod	577,individuals
R3584	T13007	T13005	pobj	individuals,from
R3585	T13008	T13007	prep	of,individuals
R3586	T13009	T13010	amod	Northern,European
R3587	T13010	T13011	amod	European,descent
R3588	T13011	T13008	pobj	descent,of
R3589	T13012	T13007	prep	from,individuals
R359	T1600	T1598	cc	and,disease
R3590	T13013	T13014	compound	North,America
R3591	T13014	T13012	pobj	America,from
R3592	T13015	T13014	cc	and,America
R3593	T13016	T13014	conj	Europe,America
R3594	T13017	T13000	punct	", ",data
R3595	T13018	T13000	acl	produced,data
R3596	T13019	T13018	agent	by,produced
R3597	T13020	T13019	pobj	us,by
R3598	T13021	T13018	prep	as,produced
R3599	T13022	T13023	det	a,part
R36	T912	T913	det	the,lesion
R360	T1601	T1602	amod	corresponding,mutation
R3600	T13023	T13021	pobj	part,as
R3601	T13024	T13023	prep	of,part
R3602	T13025	T13026	det	an,study
R3603	T13026	T13024	pobj	study,of
R3604	T13027	T13026	amod	ongoing,study
R3605	T13028	T12970	punct	.,examined
R3606	T13030	T13031	prep	In,designed
R3607	T13032	T13033	det	an,attempt
R3608	T13033	T13030	pobj	attempt,In
R3609	T13034	T13035	aux	to,narrow
R361	T1602	T1598	conj	mutation,disease
R3610	T13035	T13033	acl	narrow,attempt
R3611	T13036	T13037	det	the,intervals
R3612	T13037	T13035	dobj	intervals,narrow
R3613	T13038	T13037	amod	unknown,intervals
R3614	T13039	T13037	acl	flanking,intervals
R3615	T13040	T13041	det	the,deletion
R3616	T13041	T13039	dobj	deletion,flanking
R3617	T13042	T13041	acl	observed,deletion
R3618	T13043	T13042	prep	in,observed
R3619	T13044	T13045	compound	family,AUS1
R362	T1603	T1596	prep	in,identify
R3620	T13045	T13043	pobj	AUS1,in
R3621	T13046	T13031	punct	", ",designed
R3622	T13047	T13031	nsubj	we,designed
R3623	T13048	T13031	dobj	primers,designed
R3624	T13049	T13048	prep	for,primers
R3625	T13050	T13051	nummod	30,amplifications
R3626	T13051	T13049	pobj	amplifications,for
R3627	T13052	T13051	compound	PCR,amplifications
R3628	T13053	T13054	dep	that,generate
R3629	T13054	T13051	relcl	generate,amplifications
R363	T1604	T1603	pobj	humans,in
R3630	T13055	T13054	aux	would,generate
R3631	T13056	T13057	amod	overlapping,fragments
R3632	T13057	T13054	dobj	fragments,generate
R3633	T13058	T13054	prep	across,generate
R3634	T13059	T13060	det	the,regions
R3635	T13060	T13058	pobj	regions,across
R3636	T13061	T13060	nummod	two,regions
R3637	T13062	T13060	compound	bordering,regions
R3638	T13063	T13064	punct	(,sequence
R3639	T13064	T13060	parataxis	sequence,regions
R364	T1605	T1579	punct	.,embarked
R3640	T13065	T13064	compound	primer,sequence
R3641	T13066	T13064	cc	and,sequence
R3642	T13067	T13064	conj	conditions,sequence
R3643	T13068	T13064	amod	available,sequence
R3644	T13069	T13068	prep	upon,available
R3645	T13070	T13069	pobj	request,upon
R3646	T13071	T13064	punct	),sequence
R3647	T13072	T13031	punct	.,designed
R3648	T13074	T13075	expl	There,were
R3649	T13076	T13077	nummod	ten,pairs
R365	T1607	T1608	advmod	Here,describe
R3650	T13077	T13075	attr	pairs,were
R3651	T13078	T13077	compound	primer,pairs
R3652	T13079	T13077	prep	in,pairs
R3653	T13080	T13081	det	the,region
R3654	T13081	T13079	pobj	region,in
R3655	T13082	T13081	amod	telomeric,region
R3656	T13083	T13081	compound	flanking,region
R3657	T13084	T13077	cc	and,pairs
R3658	T13085	T13086	nummod	20,pairs
R3659	T13086	T13077	conj	pairs,pairs
R366	T1609	T1608	nsubj	we,describe
R3660	T13087	T13086	prep	in,pairs
R3661	T13088	T13089	det	the,region
R3662	T13089	T13087	pobj	region,in
R3663	T13090	T13089	amod	centromeric,region
R3664	T13091	T13089	compound	flanking,region
R3665	T13092	T13093	punct	(,S3
R3666	T13093	T13075	parataxis	S3,were
R3667	T13094	T13093	compound	Figure,S3
R3668	T13095	T13093	punct	),S3
R3669	T13096	T13075	punct	.,were
R367	T1610	T1611	det	this,effort
R3670	T13098	T13099	prep	On,was
R3671	T13100	T13098	amod	average,On
R3672	T13101	T13102	det	each,product
R3673	T13102	T13099	nsubj	product,was
R3674	T13103	T13104	punct	~,750
R3675	T13104	T13105	nummod	750,bp
R3676	T13105	T13099	attr	bp,was
R3677	T13106	T13105	prep	in,bp
R3678	T13107	T13106	pobj	size,in
R3679	T13108	T13099	punct	", ",was
R368	T1611	T1608	dobj	effort,describe
R3680	T13109	T13099	cc	and,was
R3681	T13110	T13111	nsubjpass	amplifications,performed
R3682	T13111	T13099	conj	performed,was
R3683	T13112	T13111	auxpass	were,performed
R3684	T13113	T13111	advcl	using,performed
R3685	T13114	T13115	amod	genomic,DNA
R3686	T13115	T13113	dobj	DNA,using
R3687	T13116	T13113	prep	from,using
R3688	T13117	T13116	pobj	each,from
R3689	T13118	T13117	prep	of,each
R369	T1612	T1611	cc	and,effort
R3690	T13119	T13120	det	the,individuals
R3691	T13120	T13118	pobj	individuals,of
R3692	T13121	T13120	nummod	three,individuals
R3693	T13122	T13120	amod	affected,individuals
R3694	T13123	T13124	punct	(,6
R3695	T13124	T13120	parataxis	6,individuals
R3696	T13125	T13124	nmod	family,6
R3697	T13126	T13124	nmod	members,6
R3698	T13127	T13124	punct	", ",6
R3699	T13128	T13124	conj	7,6
R37	T913	T911	dobj	lesion,define
R370	T1613	T1614	det	the,discovery
R3700	T13129	T13128	punct	", ",7
R3701	T13130	T13128	cc	and,7
R3702	T13131	T13128	conj	19,7
R3703	T13132	T13124	punct	),6
R3704	T13133	T13111	punct	.,performed
R3705	T13135	T13136	compound	Dye,terminator
R3706	T13136	T13138	compound	terminator,sequencing
R3707	T13137	T13136	punct	-,terminator
R3708	T13138	T13139	nsubjpass	sequencing,performed
R3709	T13139	T13144	ccomp	performed,performed
R371	T1614	T1611	conj	discovery,effort
R3710	T13140	T13138	prep	of,sequencing
R3711	T13141	T13142	det	each,product
R3712	T13142	T13140	pobj	product,of
R3713	T13143	T13139	auxpass	was,performed
R3714	T13145	T13139	advcl	using,performed
R3715	T13146	T13147	det	the,primers
R3716	T13147	T13145	dobj	primers,using
R3717	T13148	T13147	amod	forward,primers
R3718	T13149	T13148	cc	and,forward
R3719	T13150	T13148	conj	reverse,forward
R372	T1615	T1614	prep	of,discovery
R3720	T13151	T13147	acl	designed,primers
R3721	T13152	T13151	prep	for,designed
R3722	T13153	T13152	pobj	amplification,for
R3723	T13154	T13144	punct	;,performed
R3724	T13155	T13156	amod	running,analysis
R3725	T13156	T13144	nsubjpass	analysis,performed
R3726	T13157	T13156	cc	and,analysis
R3727	T13158	T13156	prep	of,analysis
R3728	T13159	T13160	det	each,fragment
R3729	T13160	T13158	pobj	fragment,of
R373	T1616	T1615	pobj	deletion,of
R3730	T13161	T13144	auxpass	was,performed
R3731	T13162	T13163	mark	as,described
R3732	T13163	T13144	advcl	described,performed
R3733	T13164	T13163	advmod	above,described
R3734	T13165	T13144	punct	.,performed
R3735	T13167	T13168	nsubjpass	Amplification,denoted
R3736	T13168	T13178	ccomp	denoted,inferred
R3737	T13169	T13167	prep	of,Amplification
R3738	T13170	T13171	det	a,fragment
R3739	T13171	T13169	pobj	fragment,of
R374	T1617	T1616	prep	at,deletion
R3740	T13172	T13171	prep	from,fragment
R3741	T13173	T13174	det	a,genome
R3742	T13174	T13172	pobj	genome,from
R3743	T13175	T13174	amod	normal,genome
R3744	T13176	T13174	amod	diploid,genome
R3745	T13177	T13168	auxpass	was,denoted
R3746	T13179	T13168	agent	by,denoted
R3747	T13180	T13181	det	the,presence
R3748	T13181	T13179	pobj	presence,by
R3749	T13182	T13181	prep	of,presence
R375	T1618	T1619	det	the,locus
R3750	T13183	T13184	det	a,polymorphism
R3751	T13184	T13182	pobj	polymorphism,of
R3752	T13185	T13184	amod	heterozygous,polymorphism
R3753	T13186	T13178	punct	;,inferred
R3754	T13187	T13178	nsubjpass	amplification,inferred
R3755	T13188	T13187	prep	of,amplification
R3756	T13189	T13190	det	a,fragment
R3757	T13190	T13188	pobj	fragment,of
R3758	T13191	T13190	prep	from,fragment
R3759	T13192	T13193	det	a,region
R376	T1619	T1617	pobj	locus,at
R3760	T13193	T13191	pobj	region,from
R3761	T13194	T13193	prep	of,region
R3762	T13195	T13196	det	the,genome
R3763	T13196	T13194	pobj	genome,of
R3764	T13197	T13196	acl	harboring,genome
R3765	T13198	T13199	det	a,deletion
R3766	T13199	T13197	dobj	deletion,harboring
R3767	T13200	T13199	amod	heterozygous,deletion
R3768	T13201	T13199	amod	genomic,deletion
R3769	T13202	T13178	auxpass	was,inferred
R377	T1620	T1619	compound	ITPR1,locus
R3770	T13203	T13204	advmod	when,noted
R3771	T13204	T13178	advcl	noted,inferred
R3772	T13205	T13204	nsubjpass	homozygosity,noted
R3773	T13206	T13205	prep	for,homozygosity
R3774	T13207	T13208	det	the,allele
R3775	T13208	T13206	pobj	allele,for
R3776	T13209	T13208	amod	major,allele
R3777	T13210	T13208	cc	and,allele
R3778	T13211	T13212	det	the,allele
R3779	T13212	T13208	conj	allele,allele
R378	T1621	T1608	prep	as,describe
R3780	T13213	T13212	amod	minor,allele
R3781	T13214	T13204	auxpass	were,noted
R3782	T13215	T13204	prep	among,noted
R3783	T13216	T13217	det	the,members
R3784	T13217	T13215	pobj	members,among
R3785	T13218	T13217	nummod	three,members
R3786	T13219	T13217	amod	affected,members
R3787	T13220	T13217	compound	family,members
R3788	T13221	T13222	punct	(,is
R3789	T13222	T13204	parataxis	is,noted
R379	T1622	T1623	det	a,cause
R3790	T13223	T13222	advmod	i.e.,is
R3791	T13224	T13222	punct	", ",is
R3792	T13225	T13222	nsubj	this,is
R3793	T13226	T13222	acomp	inconsistent,is
R3794	T13227	T13226	prep	with,inconsistent
R3795	T13228	T13229	amod	Mendelian,inheritance
R3796	T13229	T13227	pobj	inheritance,with
R3797	T13230	T13229	prep	in,inheritance
R3798	T13231	T13232	amod	related,individuals
R3799	T13232	T13230	pobj	individuals,in
R38	T914	T913	amod	genetic,lesion
R380	T1623	T1621	pobj	cause,as
R3800	T13233	T13232	acl	known,individuals
R3801	T13234	T13235	aux	to,share
R3802	T13235	T13233	xcomp	share,known
R3803	T13236	T13237	det	a,haplotype
R3804	T13237	T13235	dobj	haplotype,share
R3805	T13238	T13237	amod	common,haplotype
R3806	T13239	T13222	punct	),is
R3807	T13240	T13178	punct	.,inferred
R3808	T13242	T13243	advcl	Using,were
R3809	T13244	T13245	det	the,data
R381	T1624	T1623	prep	of,cause
R3810	T13245	T13242	dobj	data,Using
R3811	T13246	T13242	prep	from,Using
R3812	T13247	T13248	det	the,experiments
R3813	T13248	T13246	pobj	experiments,from
R3814	T13249	T13248	acl	described,experiments
R3815	T13250	T13249	advmod	above,described
R3816	T13251	T13243	nsubj	we,were
R3817	T13252	T13243	acomp	able,were
R3818	T13253	T13254	aux	to,limit
R3819	T13254	T13252	xcomp	limit,able
R382	T1625	T1626	det	this,disorder
R3820	T13255	T13256	det	the,size
R3821	T13256	T13254	dobj	size,limit
R3822	T13257	T13256	prep	of,size
R3823	T13258	T13259	amod	unknown,regions
R3824	T13259	T13257	pobj	regions,of
R3825	T13260	T13259	acl	flanking,regions
R3826	T13261	T13262	det	the,deletion
R3827	T13262	T13260	dobj	deletion,flanking
R3828	T13263	T13254	prep	to,limit
R3829	T13264	T13265	punct	~,4
R383	T1626	T1624	pobj	disorder,of
R3830	T13265	T13266	nummod	4,kb
R3831	T13266	T13263	pobj	kb,to
R3832	T13267	T13266	prep	on,kb
R3833	T13268	T13269	det	the,side
R3834	T13269	T13267	pobj	side,on
R3835	T13270	T13269	amod	telomeric,side
R3836	T13271	T13266	cc	and,kb
R3837	T13272	T13273	nummod	7,kb
R3838	T13273	T13266	conj	kb,kb
R3839	T13274	T13273	prep	on,kb
R384	T1627	T1626	prep	in,disorder
R3840	T13275	T13276	det	the,side
R3841	T13276	T13274	pobj	side,on
R3842	T13277	T13276	amod	centromeric,side
R3843	T13278	T13243	punct	.,were
R3844	T13280	T13281	det	All,combinations
R3845	T13281	T13282	nsubjpass	combinations,used
R3846	T13283	T13281	prep	of,combinations
R3847	T13284	T13285	amod	forward,primers
R3848	T13285	T13283	pobj	primers,of
R3849	T13286	T13285	prep	from,primers
R385	T1628	T1627	pobj	mice,in
R3850	T13287	T13288	det	the,region
R3851	T13288	T13286	pobj	region,from
R3852	T13289	T13290	advmod	newly,defined
R3853	T13290	T13288	amod	defined,region
R3854	T13291	T13281	acl	flanking,combinations
R3855	T13292	T13293	det	the,deletion
R3856	T13293	T13291	dobj	deletion,flanking
R3857	T13294	T13291	prep	on,flanking
R3858	T13295	T13296	det	the,side
R3859	T13296	T13294	pobj	side,on
R386	T1629	T1624	cc	and,of
R3860	T13297	T13296	amod	telomeric,side
R3861	T13298	T13291	prep	with,flanking
R3862	T13299	T13300	amod	reverse,primers
R3863	T13300	T13298	pobj	primers,with
R3864	T13301	T13300	prep	from,primers
R3865	T13302	T13303	det	the,region
R3866	T13303	T13301	pobj	region,from
R3867	T13304	T13305	advmod	newly,defined
R3868	T13305	T13303	amod	defined,region
R3869	T13306	T13300	acl	flanking,primers
R387	T1630	T1624	conj	of,of
R3870	T13307	T13308	det	the,deletion
R3871	T13308	T13306	dobj	deletion,flanking
R3872	T13309	T13306	prep	on,flanking
R3873	T13310	T13311	det	the,side
R3874	T13311	T13309	pobj	side,on
R3875	T13312	T13311	amod	centromeric,side
R3876	T13313	T13282	auxpass	were,used
R3877	T13314	T13282	prep	in,used
R3878	T13315	T13316	compound	PCR,amplification
R3879	T13316	T13317	compound	amplification,reactions
R388	T1631	T1632	amod	spinocerebellar,ataxia
R3880	T13317	T13314	pobj	reactions,in
R3881	T13318	T13317	acl	performed,reactions
R3882	T13319	T13318	prep	with,performed
R3883	T13320	T13319	pobj	DNA,with
R3884	T13321	T13320	prep	from,DNA
R3885	T13322	T13323	det	the,members
R3886	T13323	T13321	pobj	members,from
R3887	T13324	T13323	nummod	three,members
R3888	T13325	T13323	amod	affected,members
R3889	T13326	T13323	compound	family,members
R389	T1632	T1630	pobj	ataxia,of
R3890	T13327	T13323	cc	and,members
R3891	T13328	T13329	amod	single,members
R3892	T13329	T13323	conj	members,members
R3893	T13330	T13329	amod	unaffected,members
R3894	T13331	T13329	compound	family,members
R3895	T13332	T13282	punct	.,used
R3896	T13334	T13335	det	This,experiment
R3897	T13335	T13336	nsubjpass	experiment,performed
R3898	T13337	T13336	auxpass	was,performed
R3899	T13338	T13336	prep	in,performed
R39	T915	T913	acl	underlying,lesion
R390	T1633	T1632	nummod	15,ataxia
R3900	T13339	T13340	det	an,attempt
R3901	T13340	T13338	pobj	attempt,in
R3902	T13341	T13342	aux	to,amplify
R3903	T13342	T13340	acl	amplify,attempt
R3904	T13343	T13342	prep	across,amplify
R3905	T13344	T13345	det	the,fragment
R3906	T13345	T13343	pobj	fragment,across
R3907	T13346	T13345	amod	deleted,fragment
R3908	T13347	T13342	cc	and,amplify
R3909	T13348	T13342	conj	define,amplify
R391	T1634	T1632	punct	(,ataxia
R3910	T13349	T13350	det	the,breakpoint
R3911	T13350	T13348	dobj	breakpoint,define
R3912	T13351	T13350	amod	exact,breakpoint
R3913	T13352	T13336	punct	.,performed
R3914	T13354	T13355	det	A,fragment
R3915	T13355	T13357	nsubjpass	fragment,obtained
R3916	T13356	T13355	amod	single,fragment
R3917	T13358	T13357	auxpass	was,obtained
R3918	T13359	T13357	prep	from,obtained
R3919	T13360	T13361	det	the,primer
R392	T1635	T1632	appos	SCA15,ataxia
R3920	T13361	T13359	pobj	primer,from
R3921	T13362	T13361	amod	third,primer
R3922	T13363	T13361	amod	forward,primer
R3923	T13364	T13361	prep	from,primer
R3924	T13365	T13366	det	the,side
R3925	T13366	T13364	pobj	side,from
R3926	T13367	T13366	amod	telomeric,side
R3927	T13368	T13369	punct	(,TGAATGCTCAATTTTCCAGC
R3928	T13369	T13361	parataxis	TGAATGCTCAATTTTCCAGC,primer
R3929	T13370	T13369	nmod	T3f,TGAATGCTCAATTTTCCAGC
R393	T1636	T1632	punct	),ataxia
R3930	T13371	T13369	nummod	5,TGAATGCTCAATTTTCCAGC
R3931	T13372	T13371	punct	′,5
R3932	T13373	T13369	punct	-,TGAATGCTCAATTTTCCAGC
R3933	T13374	T13369	punct	-,TGAATGCTCAATTTTCCAGC
R3934	T13375	T13369	nummod	3,TGAATGCTCAATTTTCCAGC
R3935	T13376	T13369	punct	′,TGAATGCTCAATTTTCCAGC
R3936	T13377	T13369	punct	),TGAATGCTCAATTTTCCAGC
R3937	T13378	T13357	prep	with,obtained
R3938	T13379	T13380	det	the,primer
R3939	T13380	T13378	pobj	primer,with
R394	T1637	T1632	prep	in,ataxia
R3940	T13381	T13380	amod	11th,primer
R3941	T13382	T13380	amod	reverse,primer
R3942	T13383	T13380	prep	from,primer
R3943	T13384	T13385	det	the,side
R3944	T13385	T13383	pobj	side,from
R3945	T13386	T13385	amod	centromeric,side
R3946	T13387	T13388	punct	(,GGGAAAATGGATAGAGGGTG
R3947	T13388	T13380	parataxis	GGGAAAATGGATAGAGGGTG,primer
R3948	T13389	T13388	nmod	C11r,GGGAAAATGGATAGAGGGTG
R3949	T13390	T13388	nummod	5,GGGAAAATGGATAGAGGGTG
R395	T1638	T1637	pobj	humans,in
R3950	T13391	T13390	punct	′,5
R3951	T13392	T13388	punct	-,GGGAAAATGGATAGAGGGTG
R3952	T13393	T13388	punct	-,GGGAAAATGGATAGAGGGTG
R3953	T13394	T13388	nummod	3,GGGAAAATGGATAGAGGGTG
R3954	T13395	T13388	punct	′,GGGAAAATGGATAGAGGGTG
R3955	T13396	T13388	punct	),GGGAAAATGGATAGAGGGTG
R3956	T13397	T13357	punct	.,obtained
R3957	T13399	T13400	det	The,fragment
R3958	T13400	T13401	nsubjpass	fragment,sequenced
R3959	T13402	T13400	punct	", ",fragment
R396	T1639	T1608	punct	.,describe
R3960	T13403	T13404	dep	which,is
R3961	T13404	T13400	relcl	is,fragment
R3962	T13405	T13406	nummod	953,bp
R3963	T13406	T13404	attr	bp,is
R3964	T13407	T13406	prep	in,bp
R3965	T13408	T13407	pobj	size,in
R3966	T13409	T13401	punct	", ",sequenced
R3967	T13410	T13401	auxpass	was,sequenced
R3968	T13411	T13412	mark	as,described
R3969	T13412	T13401	advcl	described,sequenced
R3970	T13413	T13412	advmod	above,described
R3971	T13414	T13412	cc	and,described
R3972	T13415	T13412	conj	compared,described
R3973	T13416	T13415	prep	to,compared
R3974	T13417	T13418	det	the,build
R3975	T13418	T13416	pobj	build,to
R3976	T13419	T13418	amod	current,build
R3977	T13420	T13418	prep	of,build
R3978	T13421	T13422	det	the,genome
R3979	T13422	T13420	pobj	genome,of
R3980	T13423	T13422	amod	human,genome
R3981	T13424	T13401	punct	.,sequenced
R3982	T13426	T13427	det	A,series
R3983	T13427	T13429	nsubjpass	series,performed
R3984	T13428	T13427	amod	similar,series
R3985	T13429	T13433	ccomp	performed,were
R3986	T13430	T13427	prep	of,series
R3987	T13431	T13430	pobj	experiments,of
R3988	T13432	T13429	auxpass	was,performed
R3989	T13434	T13435	aux	to,identify
R3990	T13435	T13429	advcl	identify,performed
R3991	T13436	T13437	det	the,breakpoints
R3992	T13437	T13435	dobj	breakpoints,identify
R3993	T13438	T13437	compound	deletion,breakpoints
R3994	T13439	T13437	prep	in,breakpoints
R3995	T13440	T13441	compound	families,H27
R3996	T13441	T13439	pobj	H27,in
R3997	T13442	T13441	cc	and,H27
R3998	T13443	T13441	conj	H33,H27
R3999	T13444	T13433	punct	;,were
R4	T874	T871	prep	at,Deletion
R40	T916	T917	det	this,disorder
R4000	T13445	T13433	nsubj	we,were
R4001	T13446	T13433	acomp	able,were
R4002	T13447	T13448	aux	to,amplify
R4003	T13448	T13446	xcomp	amplify,able
R4004	T13449	T13450	det	a,product
R4005	T13450	T13448	dobj	product,amplify
R4006	T13451	T13452	nummod	369,bp
R4007	T13452	T13450	compound	bp,product
R4008	T13453	T13452	punct	-,bp
R4009	T13454	T13450	compound	PCR,product
R4010	T13455	T13448	prep	across,amplify
R4011	T13456	T13457	det	the,breakpoint
R4012	T13457	T13455	pobj	breakpoint,across
R4013	T13458	T13457	acl	found,breakpoint
R4014	T13459	T13458	prep	in,found
R4015	T13460	T13461	amod	affected,members
R4016	T13461	T13459	pobj	members,in
R4017	T13462	T13461	prep	of,members
R4018	T13463	T13464	compound	family,H27
R4019	T13464	T13462	pobj	H27,of
R4020	T13465	T13448	advcl	using,amplify
R4021	T13466	T13467	compound	primer,pair
R4022	T13467	T13465	dobj	pair,using
R4023	T13468	T13469	nmod	H27,11F
R4024	T13469	T13471	nmod	11F,GACCTCAAGAAGGCATGAATAC
R4025	T13470	T13469	punct	-,11F
R4026	T13471	T13467	appos	GACCTCAAGAAGGCATGAATAC,pair
R4027	T13472	T13471	nummod	5,GACCTCAAGAAGGCATGAATAC
R4028	T13473	T13472	punct	′,5
R4029	T13474	T13471	punct	-,GACCTCAAGAAGGCATGAATAC
R4030	T13475	T13471	punct	-,GACCTCAAGAAGGCATGAATAC
R4031	T13476	T13471	nummod	3,GACCTCAAGAAGGCATGAATAC
R4032	T13477	T13471	punct	′,GACCTCAAGAAGGCATGAATAC
R4033	T13478	T13471	cc	and,GACCTCAAGAAGGCATGAATAC
R4034	T13479	T13480	nmod	H27,3R
R4035	T13480	T13482	nmod	3R,ATGGTGGCCAGGTACACAAG
R4036	T13481	T13480	punct	-,3R
R4037	T13482	T13471	conj	ATGGTGGCCAGGTACACAAG,GACCTCAAGAAGGCATGAATAC
R4038	T13483	T13482	nummod	5,ATGGTGGCCAGGTACACAAG
R4039	T13484	T13483	punct	′,5
R4040	T13485	T13482	punct	-,ATGGTGGCCAGGTACACAAG
R4041	T13486	T13482	punct	-,ATGGTGGCCAGGTACACAAG
R4042	T13487	T13482	nummod	3,ATGGTGGCCAGGTACACAAG
R4043	T13488	T13482	punct	′,ATGGTGGCCAGGTACACAAG
R4044	T13489	T13490	punct	(,S4
R4045	T13490	T13465	parataxis	S4,using
R4046	T13491	T13490	compound	Figure,S4
R4047	T13492	T13490	punct	),S4
R4048	T13493	T13433	punct	", ",were
R4049	T13494	T13433	cc	but,were
R4050	T13495	T13496	prep	to,been
R4051	T13496	T13433	conj	been,were
R4052	T13497	T13495	pobj	date,to
R4053	T13498	T13496	nsubj	we,been
R4054	T13499	T13496	aux	have,been
R4055	T13500	T13496	acomp	unable,been
R4056	T13501	T13502	aux	to,identify
R4057	T13502	T13500	xcomp	identify,unable
R4058	T13503	T13504	det	the,breakpoint
R4059	T13504	T13502	dobj	breakpoint,identify
R406	T6363	T6364	prep	During,noted
R4060	T13505	T13504	prep	in,breakpoint
R4061	T13506	T13507	compound	family,H33
R4062	T13507	T13505	pobj	H33,in
R4063	T13508	T13433	punct	.,were
R4064	T13807	T13808	compound	Western,blot
R4065	T13808	T13809	compound	blot,analysis
R4066	T13810	T13809	prep	in,analysis
R4067	T13811	T13812	compound	SCA15,patients
R4068	T13812	T13810	pobj	patients,in
R4069	T13813	T13809	punct	.,analysis
R4070	T13815	T13816	nmod	EBV,lymphoblasts
R4071	T13816	T13818	nsubjpass	lymphoblasts,used
R4072	T13817	T13816	amod	immortalized,lymphoblasts
R4073	T13818	T13836	ccomp	used,came
R4074	T13819	T13816	prep	from,lymphoblasts
R4075	T13820	T13821	nummod	three,members
R4076	T13821	T13819	pobj	members,from
R4077	T13822	T13821	amod	affected,members
R4078	T13823	T13821	compound	family,members
R4079	T13824	T13825	dep	who,carry
R408	T6365	T6366	det	the,generation
R4080	T13825	T13821	relcl	carry,members
R4081	T13826	T13827	det	the,deletion
R4082	T13827	T13825	dobj	deletion,carry
R4083	T13828	T13821	cc	and,members
R4084	T13829	T13830	nummod	one,member
R4085	T13830	T13821	conj	member,members
R4086	T13831	T13830	compound	family,member
R4087	T13832	T13830	prep	without,member
R4088	T13833	T13834	det	the,mutation
R4089	T13834	T13832	pobj	mutation,without
R409	T6366	T6363	pobj	generation,During
R4090	T13835	T13818	auxpass	were,used
R4091	T13837	T13818	prep	as,used
R4092	T13838	T13839	det	a,source
R4093	T13839	T13837	pobj	source,as
R4094	T13840	T13841	advmod	readily,accessible
R4095	T13841	T13839	amod	accessible,source
R4096	T13842	T13839	prep	of,source
R4097	T13843	T13842	pobj	protein,of
R4098	T13844	T13836	punct	;,came
R4099	T13845	T13846	det	all,samples
R41	T917	T915	dobj	disorder,underlying
R410	T6474	T6473	prep	at,presented
R4100	T13846	T13836	nsubj	samples,came
R4101	T13847	T13836	prep	from,came
R4102	T13848	T13847	pobj	members,from
R4103	T13849	T13848	prep	of,members
R4104	T13850	T13851	compound	family,AUS1
R4105	T13851	T13849	pobj	AUS1,of
R4106	T13852	T13836	punct	.,came
R4107	T13854	T13855	compound	Protein,extraction
R4108	T13855	T13856	nsubjpass	extraction,performed
R4109	T13857	T13856	auxpass	was,performed
R411	T6475	T6476	advmod	approximately,day
R4110	T13858	T13856	advcl	using,performed
R4111	T13859	T13860	compound	lysis,buffer
R4112	T13860	T13858	dobj	buffer,using
R4113	T13861	T13860	acl	containing,buffer
R4114	T13862	T13863	nummod	1,TBS
R4115	T13863	T13861	dobj	TBS,containing
R4116	T13864	T13862	punct	×,1
R4117	T13865	T13863	punct	", ",TBS
R4118	T13866	T13867	nummod	1,%
R4119	T13867	T13868	compound	%,X
R412	T6476	T6474	pobj	day,at
R4120	T13868	T13863	conj	X,TBS
R4121	T13869	T13868	compound	Triton,X
R4122	T13870	T13868	punct	-,X
R4123	T13871	T13868	nummod	100,X
R4124	T13872	T13868	punct	", ",X
R4125	T13873	T13868	cc	and,X
R4126	T13874	T13875	det	a,cocktail
R4127	T13875	T13868	conj	cocktail,X
R4128	T13876	T13875	prep	of,cocktail
R4129	T13877	T13878	compound	protease,inhibitors
R413	T6477	T6476	amod	postnatal,day
R4130	T13878	T13876	pobj	inhibitors,of
R4131	T13879	T13880	punct	(,Roche
R4132	T13880	T13878	parataxis	Roche,inhibitors
R4133	T13881	T13880	punct	),Roche
R4134	T13882	T13856	prep	with,performed
R4135	T13883	T13884	amod	overnight,lysis
R4136	T13884	T13882	pobj	lysis,with
R4137	T13885	T13856	prep	at,performed
R4138	T13886	T13887	punct	−,80
R4139	T13887	T13888	nummod	80,°C
R414	T6367	T6366	prep	of,generation
R4140	T13888	T13885	pobj	°C,at
R4141	T13889	T13856	punct	.,performed
R4142	T13891	T13892	nsubjpass	Homogenates,diluted
R4143	T13893	T13892	auxpass	were,diluted
R4144	T13894	T13892	advmod	appropriately,diluted
R4145	T13895	T13892	punct	", ",diluted
R4146	T13896	T13892	conj	mixed,diluted
R4147	T13897	T13896	prep	with,mixed
R4148	T13898	T13899	nummod	4,buffer
R4149	T13899	T13897	pobj	buffer,with
R415	T6368	T6369	det	a,line
R4150	T13900	T13898	punct	×,4
R4151	T13901	T13899	amod	reducing,buffer
R4152	T13902	T13899	compound	sample,buffer
R4153	T13903	T13896	punct	", ",mixed
R4154	T13904	T13896	cc	and,mixed
R4155	T13905	T13896	conj	loaded,mixed
R4156	T13906	T13905	prep	onto,loaded
R4157	T13907	T13908	nummod	4,%
R4158	T13908	T13909	nmod	%,gels
R4159	T13909	T13906	pobj	gels,onto
R416	T6478	T6476	nummod	14,day
R4160	T13910	T13911	punct	–,%
R4161	T13911	T13908	prep	%,%
R4162	T13912	T13911	nummod	12,%
R4163	T13913	T13909	amod	precast,gels
R4164	T13914	T13909	compound	gradient,gels
R4165	T13915	T13916	punct	(,NuPAGE
R4166	T13916	T13909	parataxis	NuPAGE,gels
R4167	T13917	T13916	punct	", ",NuPAGE
R4168	T13918	T13916	appos	Invitrogen,NuPAGE
R4169	T13919	T13916	punct	),NuPAGE
R417	T6369	T6367	pobj	line,of
R4170	T13920	T13905	prep	for,loaded
R4171	T13921	T13922	compound	SDS,PAGE
R4172	T13922	T13920	pobj	PAGE,for
R4173	T13923	T13922	punct	-,PAGE
R4174	T13924	T13922	cc	and,PAGE
R4175	T13925	T13922	conj	immunoblotting,PAGE
R4176	T13926	T13892	punct	.,diluted
R4177	T13928	T13929	det	The,antibodies
R4178	T13929	T13930	nsubjpass	antibodies,used
R4179	T13931	T13929	prep	to,antibodies
R418	T6370	T6369	prep	of,line
R4180	T13932	T13931	pobj	ITPR1,to
R4181	T13933	T13934	punct	(,1
R4182	T13934	T13932	parataxis	1,ITPR1
R4183	T13935	T13936	punct	:,"1,000"
R4184	T13936	T13934	prep	"1,000",1
R4185	T13937	T13934	punct	),1
R4186	T13938	T13932	cc	and,ITPR1
R4187	T13939	T13932	conj	ACTB,ITPR1
R4188	T13940	T13941	punct	(,1
R4189	T13941	T13939	parataxis	1,ACTB
R419	T6371	T6370	pobj	mice,of
R4190	T13942	T13943	punct	:,"5,000"
R4191	T13943	T13941	prep	"5,000",1
R4192	T13944	T13941	punct	),1
R4193	T13945	T13930	auxpass	were,used
R4194	T13946	T13947	mark	as,recommended
R4195	T13947	T13930	advcl	recommended,used
R4196	T13948	T13947	agent	by,recommended
R4197	T13949	T13948	pobj	manufacturers,by
R4198	T13950	T13930	punct	.,used
R4199	T14400	T14399	cc	and,Immunohistochemistry
R42	T918	T911	cc	and,define
R420	T6479	T6473	punct	", ",presented
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
R421	T6372	T6371	prep	with,mice
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
R422	T6373	T6372	pobj	knockout,with
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
R423	T6374	T6373	prep	of,knockout
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
R424	T6480	T6473	cc	and,presented
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
R425	T6375	T6376	det	the,gene
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
R426	T6376	T6374	pobj	gene,of
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
R427	T6481	T6482	compound	survival,time
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
R428	T6377	T6376	appos	Park7,gene
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
R429	T6378	T6364	nsubj	we,noted
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
R43	T919	T920	aux	to,identify
R430	T6379	T6380	det	an,disorder
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
R431	T6380	T6364	dobj	disorder,noted
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
R432	T6482	T6483	nsubj	time,was
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
R433	T6381	T6380	amod	early,disorder
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
R434	T6382	T6380	compound	movement,disorder
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
R435	T6383	T6384	dep	that,inherited
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
R436	T6483	T6473	conj	was,presented
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
R437	T6384	T6380	relcl	inherited,disorder
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
R438	T6385	T6384	auxpass	was,inherited
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
R439	T6386	T6384	advmod	independently,inherited
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
R44	T920	T911	conj	identify,define
R440	T6484	T6482	prep	without,time
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
R441	T6387	T6386	prep	of,independently
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
R442	T6388	T6389	compound	targeting,vector
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
R443	T6389	T6390	compound	vector,transmission
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
R444	T6485	T6484	pobj	weaning,without
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
R445	T6390	T6387	pobj	transmission,of
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
R446	T6391	T6364	punct	.,noted
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
R447	T6393	T6394	poss	Our,observations
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
R448	T6394	T6396	nsubj	observations,suggested
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
R449	T6395	T6394	amod	initial,observations
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
R45	T921	T922	det	a,disease
R450	T6397	T6398	det	the,mice
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
R451	T6398	T6400	nsubj	mice,suffered
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
R452	T6486	T6483	prep	on,was
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
R453	T6399	T6398	amod	affected,mice
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
R454	T6400	T6396	advcl	suffered,suggested
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
R455	T6401	T6400	prep	from,suffered
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
R456	T6402	T6403	det	an,disorder
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
R457	T6487	T6486	amod	average,on
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
R458	T6403	T6401	pobj	disorder,from
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
R459	T6404	T6405	advmod	apparently,paroxysmal
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
R46	T922	T920	dobj	disease,identify
R460	T6405	T6403	amod	paroxysmal,disorder
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
R461	T6488	T6489	nummod	4,wk
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
R462	T6406	T6403	compound	movement,disorder
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
R463	T6407	T6403	punct	", ",disorder
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
R464	T6408	T6409	advmod	often,induced
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
R465	T6489	T6490	npadvmod	wk,after
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
R466	T6409	T6403	acl	induced,disorder
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
R467	T6410	T6409	prep	by,induced
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
R468	T6411	T6410	pobj	touch,by
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
R469	T6490	T6483	prep	after,was
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
R47	T923	T922	amod	cognate,disease
R470	T6412	T6396	punct	.,suggested
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
R471	T6491	T6490	pobj	onset,after
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
R472	T6414	T6415	det	The,movements
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
R473	T6492	T6483	punct	.,was
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
R474	T6415	T6417	nsubj	movements,occurred
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
R475	T6416	T6415	amod	abnormal,movements
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
R476	T6494	T6495	compound	Breeding,experiments
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
R477	T6418	T6417	advmod	predominantly,occurred
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
R478	T6419	T6417	prep	below,occurred
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
R479	T6420	T6421	det	the,level
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
R48	T924	T920	prep	in,identify
R480	T6495	T6496	nsubj	experiments,suggested
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
R481	T6421	T6419	pobj	level,below
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
R482	T6422	T6421	amod	cervical,level
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
R483	T6423	T6417	punct	", ",occurred
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
R484	T6497	T6498	mark	that,inherited
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
R485	T6424	T6417	cc	and,occurred
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
R486	T6425	T6426	det	the,disorder
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
R487	T6426	T6427	nsubj	disorder,appeared
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
R488	T6498	T6496	ccomp	inherited,suggested
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
R489	T6427	T6417	conj	appeared,occurred
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
R49	T925	T924	pobj	humans,in
R490	T6428	T6427	oprd	progressive,appeared
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
R491	T6429	T6427	punct	.,appeared
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
R492	T6499	T6500	det	the,disorder
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
R493	T6431	T6432	prep	At,likened
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
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
R5	T875	T874	pobj	ITPR1,at
R50	T926	T925	prep	with,humans
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
R51	T927	T926	pobj	mutation,with
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
R52	T928	T927	prep	at,mutation
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
R53	T929	T930	det	the,locus
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
R54	T930	T928	pobj	locus,at
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
R55	T931	T930	amod	same,locus
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
R56	T932	T905	punct	.,pursued
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
R57	T934	T935	prep	Through,show
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
R58	T936	T937	nmod	linkage,analysis
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
R59	T937	T934	pobj	analysis,Through
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
R6	T876	T872	dobj	Ataxia,Underlies
R60	T938	T936	cc	and,linkage
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
R61	T939	T936	conj	sequence,linkage
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
R62	T940	T935	nsubj	we,show
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
R63	T941	T935	advmod	here,show
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
R64	T942	T943	mark	that,caused
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
R65	T943	T935	ccomp	caused,show
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
R66	T944	T945	det	this,disorder
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
R67	T945	T943	nsubjpass	disorder,caused
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
R68	T946	T943	auxpass	is,caused
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
R69	T947	T943	agent	by,caused
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
R7	T877	T876	prep	in,Ataxia
R70	T948	T949	det	a,deletion
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
R71	T949	T947	pobj	deletion,by
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
R72	T950	T949	amod	homozygous,deletion
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
R73	T951	T949	nmod	in,deletion
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
R74	T952	T951	punct	-,in
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
R75	T953	T951	pobj	frame,in
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
R76	T954	T955	nummod	18,bp
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
R77	T955	T949	compound	bp,deletion
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
R78	T956	T955	punct	-,bp
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
R79	T957	T949	prep	in,deletion
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
R8	T878	T877	pobj	Mice,in
R80	T958	T957	pobj	Itpr1,in
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
R81	T959	T960	punct	(,Δ18
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
R82	T960	T958	parataxis	Δ18,Itpr1
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
R83	T961	T960	compound	Itpr1,Δ18
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
R84	T962	T960	compound	Δ18,Δ18
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
R85	T963	T960	punct	/,Δ18
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
R86	T964	T960	punct	),Δ18
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
R87	T965	T949	punct	", ",deletion
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
R88	T966	T949	acl	encoding,deletion
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
R89	T967	T968	nmod	inositol,receptor
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
R9	T879	T876	cc	and,Ataxia
R90	T968	T966	dobj	receptor,encoding
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
R91	T969	T970	nummod	1,5
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
R92	T970	T974	nummod	5,triphosphate
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
R93	T971	T970	punct	",",5
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
R94	T972	T970	nummod	4,5
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
R95	T973	T970	punct	",",5
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
R96	T974	T968	compound	triphosphate,receptor
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
R97	T975	T974	punct	-,triphosphate
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
R98	T976	T968	nummod	1,receptor
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
R99	T977	T935	punct	.,show
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

PMC:1892049 JSONTXT 9 Projects

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PMC:1892049 JSON TXT 9 Projects