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.
MeSH terms
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Chromosomal Proteins, Non-Histone*
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Chromosome Mapping
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DNA-Binding Proteins / genetics*
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Humans
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Methyl-CpG-Binding Protein 2
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Mutation*
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Repressor Proteins / genetics
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Rett Syndrome / genetics*
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X Chromosome*
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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MECP2 protein, human
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Methyl-CpG-Binding Protein 2
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Repressor Proteins