DNA methylation and Rett syndrome
Open Access
- 19 August 2003
- journal article
- review article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 12 (suppl 2) , R221-R227
- https://doi.org/10.1093/hmg/ddg286
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.Keywords
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