Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

Journal article

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 ...

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Authors: Nan, X; Hou, J; Maclean, A; Nasir, J; Lafuente, M

• Publication status: Published
• Journal: Proceedings of the National Academy of Sciences of the United States of America
• Volume: 104
• Issue: 8
• Pages: 2709-2714
• Publication date: 2007-02-01
• DOI: 10.1073/pnas.0608056104
• EISSN: 1091-6490
• ISSN: 0027-8424
• Language: English
• Keywords: DNA Helicases; Methyl-CpG-Binding Protein 2; Nuclear Proteins; Mutation; DNA Methylation; Cells, Cultured; Intellectual Disability; Protein Transport; DNA; Animals; Two-Hybrid System Techniques; Mice; Humans; Protein Binding; Brain