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

Gabrielle Olley; Morad Ansari; Hemant Bengani; Graeme R Grimes; DDD study; Wendy A. Bickmore; Madapura M. Pradeepa; David R. FitzPatrick

doi:10.1038/s41588-018-0042-y

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

Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, DDD study, Wendy A. Bickmore, Madapura M. Pradeepa, David R. FitzPatrick

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	329–332
Number of pages	4
Journal	Nature Genetics
Volume	50
Issue number	3
Early online date	29 Jan 2018
DOIs	https://doi.org/10.1038/s41588-018-0042-y
Publication status	Published - Mar 2018

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BRD4 interacts with NIPBL and 1 BRD4 is mutated in a CorneliaAccepted author manuscript, 4.48 MB

The role of spatial nuclear organisation in genome function
Bickmore, W.
1/04/12 → 31/03/18
Project: Research

Wendy Bickmore
- MRC Human Genetics Unit
- School of Genetics and Cancer - Director of Human Genetics Unit
Person: Academic: Research Active

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title = "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.",

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

year = "2018",

month = mar,

doi = "10.1038/s41588-018-0042-y",

language = "English",

volume = "50",

pages = "329–332",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

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TY - JOUR

T1 - BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

AU - Olley, Gabrielle

AU - Ansari, Morad

AU - Bengani, Hemant

AU - Grimes, Graeme R

AU - Rhodes, James

AU - von Kriegsheim, Alex

AU - Blatnik, Ana

AU - Stewart, Fiona J

AU - Wakeling, Emma

AU - Carroll, Nicola

AU - Ross, Alison

AU - Park, Soo-Mi

AU - DDD study

AU - Bickmore, Wendy A.

AU - Pradeepa, Madapura M.

AU - FitzPatrick, David R.

PY - 2018/3

Y1 - 2018/3

N2 - 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.

AB - 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.

U2 - 10.1038/s41588-018-0042-y

DO - 10.1038/s41588-018-0042-y

M3 - Article

SN - 1061-4036

VL - 50

SP - 329

EP - 332

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

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