Methyl-CpG-binding protein 2 mutations in Rett syndrome

I B Van den Veyver; H Y Zoghbi

doi:10.1016/s0959-437x(00)00083-6

Methyl-CpG-binding protein 2 mutations in Rett syndrome

Curr Opin Genet Dev. 2000 Jun;10(3):275-9. doi: 10.1016/s0959-437x(00)00083-6.

Authors

I B Van den Veyver¹, H Y Zoghbi

Affiliation

¹ Department of Obstetrics and Gynecology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. iveyver@bcm.tmc.edu

PMID: 10826991
DOI: 10.1016/s0959-437x(00)00083-6

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.

Publication types

Review

MeSH terms

Chromosomal Proteins, Non-Histone*
Chromosome Mapping
DNA-Binding Proteins / genetics*
Humans
Methyl-CpG-Binding Protein 2
Mutation*
Repressor Proteins / genetics
Rett Syndrome / genetics*
X Chromosome*

Substances

Chromosomal Proteins, Non-Histone
DNA-Binding Proteins
MECP2 protein, human
Methyl-CpG-Binding Protein 2
Repressor Proteins