Rett syndrome is caused by mutations in the gene that encodes methyl-CpG-binding protein 2 (MECP2). Previous studies have shown that many disease-causing mutations are clustered in its DNA-binding region. Bird and colleagues have identified another cluster of Rett syndrome-associated mutations in the C-terminal half of MECP2. These mutations disrupt the interaction between MECP2 and NCOR–SMRT co-repressor complexes, impairing transcriptional repression. Importantly, mice expressing one of these MECP2 mutations exhibited severe Rett-like phenotypes, indicating that a core function of MECP2 is to recruit co-repressors to DNA.
References
Lyst, M. J. et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nature Neurosci. http://dx.doi.org/10.1038/nn.3434 (2013)
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Flight, M. Loss of MECP2 bridge in Rett. Nat Rev Neurosci 14, 520 (2013). https://doi.org/10.1038/nrn3552
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DOI: https://doi.org/10.1038/nrn3552