Article
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
Brain & development - 1 Jun 2007
Campos Mário, Abdalla Cláudia Bueno, Santos-Rebouças Cíntia Barros, dos Santos Adriana Vaz, Pestana Cristiane Pinheiro, Domingues Mariana Lopes, dos Santos Jussara Mendonça, Pimentel Márcia Mattos Gonçalves
Abstract excerpt
MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females. In this study, we present the first screening...
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