Journal
NATURE NEUROSCIENCE
Volume 16, Issue 7, Pages 898-U268Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nn.3434
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Funding
- Rett Syndrome Research Trust
- Wellcome Trust
- NIH [R01NS048276, K08MH90306]
- NIHP30-HD [18655]
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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.
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