2. Academic Validation
  3. DNA methylation and Rett syndrome

DNA methylation and Rett syndrome

  • Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R221-7. doi: 10.1093/hmg/ddg286.
Skirmantas Kriaucionis 1,  Adrian Bird
Affiliations

Affiliation

  • 1 Welcome Trust Centre for Biology, University of Edingburgh, The King's Buildings, Edingburgh, Scotland, UK.
PMID: 12928486 DOI: 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.

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