title: DNA methylation and Rett syndrome.
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.
authors.affiliation: Welcome Trust Centre for Biology, University of Edingburgh, The King's Buildings, Edingburgh, Scotland, UK.
authors.forename: Skirmantas
authors.initials: S
authors.lastname: Kriaucionis
authors.forename: Adrian
authors.initials: A
authors.lastname: Bird
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism; D002868:Chromosomal Proteins, Non-Histone; D019175:DNA Methylation; D004268:DNA-Binding Proteins / Q000235:genetics; D005786:Gene Expression Regulation; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; C497393:Mecp2 protein, mouse; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins