MeCP2 and other methyl-CpG binding proteins

被引：47
|
作者：
Jorgensen, HF [1 ]
Bird, A [1 ]
机构：
[1] Univ Edinburgh, Inst Cell & Mol Biol, Wellcome Trust Ctr Cell Biol, Edinburgh EH9 3JR, Midlothian, Scotland
来源：
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS | 2002年 / 8卷 / 02期
关键词：
MeCP2; methyl-CpG binding domain; DNA methylation; Rett syndrome;
D O I：
10.1002/mrdd.10021
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
DNA methylation is an epigenetic modification that is implicated in transcriptional silencing. Recently, it has become increasingly clear that both correct levels and proper interpretation of methylation are important factors for normal development and function of the human organism. One example is the neurological disorder Rett syndrome (RTT), which affects approximately one in 10,000 girls. RTT is caused by mutations in MeCP2, a protein that was identified by its ability to bind specifically to CpG-methylated DNA. Furthermore, MeCP2 represses transcription in a methylation-dependent manner, and it is the founding member of the family of methyl-CpG binding domain (MBD) proteins. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码：87 / 93
页数：7
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