A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

被引：253
作者：
Mnatzakanian, GN
Lohi, H
Munteanu, I
Alfred, SE
Yamada, T
MacLeod, PJM
Jones, JR
Scherer, SW
Schanen, NC
Friez, MJ
Vincent, JB
Minassian, BA
机构：
[1] Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada
[3] Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada
[4] Victoria Gen Hosp, Div Med Genet, Victoria, BC V8R 6R5, Canada
[5] Greenwood Genet Ctr, Greenwood, SC 29646 USA
[6] Alfred I duPOnt Hosp Children, Nemours Res Program, Wilmington, DE 19803 USA
[7] Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada
来源：
NATURE GENETICS | 2004年 / 36卷 / 04期
基金：
加拿大健康研究院;
关键词：
D O I：
10.1038/ng1327
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Rett syndrome is caused by mutations in the gene MECP2 in 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
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收藏
页码：339 / 341
页数：3
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