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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

http://www.ncbi.nlm.nih.gov/pubmed/16251272

Rett syndrome (RTT) is a postnatal neurodevelopmental disorder characterized by the loss of acquired motor and language skills, autistic features, and unusual stereotyped movements. RTT is caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). Mutations in MECP2 cause a variety of neurodevelopmental disorders including X-linked mental retardation, psychiatric disorders, and some cases of autism. Although MeCP2 was identified as a methylation-dependent transcriptional repressor, transcriptional profiling of RNAs from mice lacking MeCP2 did not reveal significant gene expression changes, suggesting that MeCP2 does not simply function as a global repressor. Changes in expression of a few genes have been observed, but these alterations do not explain the full spectrum of Rett-like phenotypes, raising the possibility that additional MeCP2 functions play a role in pathogenesis. In this study, we show that MeCP2 interacts with the RNA-binding protein Y box-binding protein 1 and regulates splicing of reporter minigenes. Importantly, we found aberrant alternative splicing patterns in a mouse model of RTT. Thus, we uncovered a previously uncharacterized function of MeCP2 that involves regulation of splicing, in addition to its role as a transcriptional repressor.

Pubmed ID: 16251272 RIS Download

Mesh terms: Animals | Cell Line, Tumor | DNA Methylation | Exons | Gene Expression Profiling | Genes, Reporter | Humans | Methyl-CpG-Binding Protein 2 | Mice | Models, Genetic | Protein Binding | RNA | RNA Splicing | Rett Syndrome | Transcription, Genetic