Methyl-CpG-binding protein 2 mutations in Rett syndrome.
The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.
Van den Veyver
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Department of Obstetrics and Gynecology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. iveyver@bcm.tmc.edu
Zoghbi
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D002868:Chromosomal Proteins, Non-Histone; D002874:Chromosome Mapping; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins