@article{a5a0708efa294cc391e71213351d3b40,
title = "Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor",
abstract = "Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding domain of MeCP2, suggesting that association with chromatin is critical for its function. We identified a second mutational cluster in a previously uncharacterized region of MeCP2. We found that RTT mutations in this region abolished the interaction between MeCP2 and the NCoR/SMRT co-repressor complexes. Mice bearing a common missense RTT mutation in this domain exhibited severe RTT-like phenotypes. Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin.",
author = "Lyst, {Matthew J.} and Robert Ekiert and Ebert, {Daniel H.} and Cara Merusi and Jakub Nowak and Jim Selfridge and Jacky Guy and Kastan, {Nathaniel R.} and Robinson, {Nathaniel D.} and {De Lima Alves}, Flavia and Juri Rappsilber and Greenberg, {Michael E.} and Adrian Bird",
note = "Funding Information: We thank Harrison Gabel for advice and materials, and Martha Koerner, Thomas Clouaire and Sabine Lagger for comments on the manuscript. The work was supported by a grant to A.B. and M.E.G. from the Rett Syndrome Research Trust and by grants from the Wellcome Trust (to A.B.) and the NIH R01NS048276 (to M.E.G.). D.H.E. was supported by NIH grant K08MH90306. The Mouse Gene Manipulation Facility of the Boston Children{\textquoteright}s Hospital Intellectual and Developmental Disabilities Research Center (IDDRC) was supported by grant NIHP30-HD 18655. R.E. and J.N. were funded by Wellcome Trust 4 year PhD studentships and J.R. holds a Wellcome Trust Senior Fellowship.",
year = "2013",
month = jul,
doi = "10.1038/nn.3434",
language = "English (US)",
volume = "16",
pages = "898--902",
journal = "Nature neuroscience",
issn = "1097-6256",
publisher = "Nature Publishing Group",
number = "7",
}