Ontology highlight
ABSTRACT:
SUBMITTER: Olley G
PROVIDER: S-EPMC6469577 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Olley Gabrielle G Ansari Morad M Bengani Hemant H Grimes Graeme R GR Rhodes James J von Kriegsheim Alex A Blatnik Ana A Stewart Fiona J FJ Wakeling Emma E Carroll Nicola N Ross Alison A Park Soo-Mi SM Bickmore Wendy A WA Pradeepa Madapura M MM FitzPatrick David R DR
Nature genetics 20180129 3
We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated histones. BRD4 and NIPBL displayed correlated binding at super-enhancers and appeared to co-regulate developmental gene expression. ...[more]