期刊
NATURE GENETICS
卷 50, 期 3, 页码 329-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-018-0042-y
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资金
- MRC University Unit award
- Carnegie Trust Research Incentive Grant [70382]
- Health Innovation Challenge Fund [HICF-1009-003]
- Wellcome Trust
- Department of Health
- Wellcome Trust Sanger Institute [WT098051]
- National Institute for Health Research through the Comprehensive Clinical Research Network
- CdLS Foundation of the UK and Ireland
- MRC [MC_PC_U127561093, MC_UU_00007/3, MC_PC_U127527202] Funding Source: UKRI
- Medical Research Council [MC_PC_U127561093, MC_PC_U127527202, 1584120, MC_UU_00007/3] Funding Source: researchfish
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.
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