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Article

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

Nature genetics - 1 Mar 2018

Olley Gabrielle, Ansari Morad, Bengani Hemant, Grimes Graeme R, Rhodes James, von Kriegsheim Alex, Blatnik Ana, Stewart Fiona J, Wakeling Emma, Carroll Nicola, Ross Alison, Park Soo-Mi, Bickmore Wendy A, Pradeepa Madapura M, FitzPatrick David R

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

Share to Gene Expression Regulation, Developmental

Share to Haploinsufficiency

Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 29379197
DOI: 10.1038/s41588-018-0042-y
PMCID: PMC6469577

Genes

BRD4
NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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