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Human Molecular Genetics Advance Access originally published online on August 19, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R221-R227
DOI: 10.1093/hmg/ddg286
© 2003 Oxford University Press

DNA methylation and Rett syndrome

Skirmantas Kriaucionis and Adrian Bird*

Wellcome Trust Centre for Cell Biology, University of Edinburgh, The King's Buildings, Edinburgh EH9 3JR, Scotland, UK

Received August 8, 2003; Accepted August 13, 2003

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.

* To whom correspondence should be addressed. Tel: +44 1316505670; Fax: +44 1316505379; E-mail: a.bird{at}ed.ac.uk


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