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Methyl-CpG-binding protein 2 mutations in Rett syndrome
I B Van den Veyver1, H Y Zoghbi
1Department of Obstetrics and Gynecology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. iveyver@bcm.tmc.edu
Current Opinion in Genetics & Development
|May 29, 2000
Abstract:
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.