一个先前未被识别的MECP2开放阅读框定义了一种与雷特综合征相关的新蛋白质异构体。

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

作者信息

Mnatzakanian Gevork N, Lohi Hannes, Munteanu Iulia, Alfred Simon E, Yamada Takahiro, MacLeod Patrick J M, Jones Julie R, Scherer Stephen W, Schanen N Carolyn, Friez Michael J, Vincent John B, Minassian Berge A

机构信息

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

出版信息

Nat Genet. 2004 Apr;36(4):339-41. doi: 10.1038/ng1327. Epub 2004 Mar 21.

DOI:10.1038/ng1327

PMID:15034579

Abstract

Rett syndrome is caused by mutations in the gene MECP2 in approximately 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.

摘要

约80%的雷特综合征患者是由MECP2基因突变引起的。我们描述了一种此前未知的MeCP2亚型。该亚型特有的突变以及迄今为止尚未发现之前所识别蛋白质特有的突变，表明这种新发现的分子在雷特综合征发病机制中具有重要作用。