Article
NSD1 mutations generate a genome-wide DNA methylation signature.
Nature communications - 22 Dec 2015
Choufani S, Cytrynbaum C, Chung B H Y, Turinsky A L, Grafodatskaya D, Chen Y A, Cohen A S A, Dupuis L, Butcher D T, Siu M T, Luk H M, Lo I F M, Lam S T S, Caluseriu O, Stavropoulos D J, Reardon W, Mendoza-Londono R, Brudno M, Gibson W T, Chitayat D, Weksberg R
Abstract excerpt
Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.