Article
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
Nature neuroscience - 1 Jul 2013
Lyst Matthew J, Ekiert Robert, Ebert Daniel H, Merusi Cara, Nowak Jakub, Selfridge Jim, Guy Jacky, Kastan Nathaniel R, Robinson Nathaniel D, de Lima Alves Flavia, Rappsilber Juri, Greenberg Michael E, Bird Adrian
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.