Bio Background |
DNA methylation is the major modification of eukaryoticgenomes and plays an essential role in mammalian development. Humanproteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family ofnuclear proteins related by the presence in each of a methyl-CpGbinding domain (MBD). Each of these proteins, with the exception ofMBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated genepromoters. In contrast to other MBD family members, MECP2 isX-linked and subject to X inactivation. MECP2 is dispensible instem cells, but is essential for embryonic development. MECP2 genemutations are the cause of most cases of Rett syndrome, aprogressive neurologic developmental disorder and one of the mostcommon causes of mental retardation in females. [provided byRefSeq]. |
Bio References |
Shapiro, J.R., et al. Pediatr. Res. 68(5):446-451(2010)Pintaudi, M., et al. Epilepsy Behav (2010) In press :Jain, D., et al. Pediatr. Neurol. 43(1):35-40(2010)Harvey, C.G., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (3), 355-360 (2007) :Francke, U. Nat Clin Pract Neurol 2(4):212-221(2006) |