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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.

Original publication

DOI

10.1093/hmg/ddg286

Type

Journal article

Journal

Hum Mol Genet

Publication Date

15/10/2003

Volume

12 Spec No 2

Pages

R221 - R227

Keywords

Animals, Brain, Chromosomal Proteins, Non-Histone, DNA Methylation, DNA-Binding Proteins, Gene Expression Regulation, Humans, Methyl-CpG-Binding Protein 2, Mice, Mice, Knockout, Mutation, Repressor Proteins, Rett Syndrome