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

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17551-8. doi: 10.1073/pnas.0507856102. Epub 2005 Oct 26.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line, Tumor
  • DNA Methylation*
  • Exons / genetics
  • Gene Expression Profiling
  • Genes, Reporter / genetics
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Methyl-CpG-Binding Protein 2 / metabolism*
  • Mice
  • Models, Genetic
  • Protein Binding
  • RNA / genetics
  • RNA Splicing / genetics*
  • Rett Syndrome / genetics
  • Transcription, Genetic / genetics*

Substances

  • Methyl-CpG-Binding Protein 2
  • RNA