Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons

Int Rev Neurobiol. 2009:89:147-60. doi: 10.1016/S0074-7742(09)89007-7.

Abstract

Mutations of MECP2 (methyl-CpG binding protein 2) cause Rett syndrome (RTT). Mouse genetics studies have demonstrated that the lack of functional MeCP2 in the central nervous system leads to RTT-like symptoms, which could be reversed upon MeCP2 restoration. MeCP2 recognizes methylated CpG dinucleotides and may interact with other chromatin remodeling proteins. Although traditionally thought to be a transcription repressor, MeCP2 may also be involved in transcription activation. With the development of new technologies, deciphering the role of MeCP2 on a genome-wide scale is important for understanding of the RTT disease mechanisms.

Publication types

  • Review

MeSH terms

  • Animals
  • Genomics
  • Humans
  • Methyl-CpG-Binding Protein 2 / biosynthesis
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / physiology
  • Mice
  • Neurons / pathology*
  • Protein Processing, Post-Translational / genetics
  • Protein Processing, Post-Translational / physiology
  • Rett Syndrome / genetics*
  • Rett Syndrome / pathology*

Substances

  • MECP2 protein, human
  • Mecp2 protein, mouse
  • Methyl-CpG-Binding Protein 2