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DNA甲基化与瑞特综合征

DNA methylation and Rett syndrome.

作者信息

Kriaucionis Skirmantas, Bird Adrian

机构信息

Welcome Trust Centre for Biology, University of Edingburgh, The King's Buildings, Edingburgh, Scotland, UK.

出版信息

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R221-7. doi: 10.1093/hmg/ddg286. Epub 2003 Aug 19.

Abstract

Methylation of cytosine in human DNA has been studied for over 60 years, but has only recently been confirmed as an important player in human disease. Rett syndrome is a neurological disorder caused by mutations in the MeCP2 protein, which has been shown to bind methylated DNA and repress transcription. This review will focus on experiments addressing the basic properties of MeCP2 and on mouse models of Rett syndrome that are starting to yield insights into this condition.

摘要

人类DNA中胞嘧啶的甲基化已经研究了60多年,但直到最近才被确认为人类疾病中的一个重要因素。雷特综合征是一种由MeCP2蛋白突变引起的神经疾病,该蛋白已被证明能结合甲基化DNA并抑制转录。这篇综述将聚焦于探讨MeCP2基本特性的实验,以及开始为这种疾病提供见解的雷特综合征小鼠模型。

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