PMID:17296936

Citation	Nan, X, Hou, J, Maclean, A, Nasir, J, Lafuente, MJ, Shu, X, Kriaucionis, S and Bird, A (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc. Natl. Acad. Sci. U.S.A. 104:2709-14
Abstract	Mutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR). We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked). MeCP2 can recruit the helicase domain of ATRX to heterochromatic foci in living mouse cells in a DNA methylation-dependent manner. Also, ATRX localization is disrupted in neurons of Mecp2-null mice. Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding. We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation.
Links	PubMed PMC1796997 Online version:10.1073/pnas.0608056104
Keywords	Animals; Brain/cytology; Brain/metabolism; Cells, Cultured; DNA/metabolism; DNA Helicases/chemistry; DNA Helicases/metabolism; DNA Methylation; Humans; Intellectual Disability/genetics; Methyl-CpG-Binding Protein 2/deficiency; Methyl-CpG-Binding Protein 2/genetics; Methyl-CpG-Binding Protein 2/metabolism; Mice; Mutation/genetics; Nuclear Proteins/chemistry; Nuclear Proteins/metabolism; Protein Binding; Protein Transport; Two-Hybrid System Techniques
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