Ontology highlight
ABSTRACT:
SUBMITTER: Chen K
PROVIDER: S-EPMC4500281 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20150619 27
Structural maintenance of chromosomes flexible hinge domain containing 1 (Smchd1) is an epigenetic repressor with described roles in X inactivation and genomic imprinting, but Smchd1 is also critically involved in the pathogenesis of facioscapulohumeral dystrophy. The underlying molecular mechanism by which Smchd1 functions in these instances remains unknown. Our genome-wide transcriptional and epigenetic analyses show that Smchd1 binds cis-regulatory elements, many of which coincide with CCCTC- ...[more]