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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

ABSTRACT: 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.

SUBMITTER: Olley G

PROVIDER: S-EPMC6469577 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

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]

PMID: 29379197

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The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes.

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