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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
- Source :
-
Nature genetics [Nat Genet] 2018 Mar; Vol. 50 (3), pp. 329-332. Date of Electronic Publication: 2018 Jan 29. - Publication Year :
- 2018
-
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.
- Subjects :
- Animals
Binding Sites genetics
Cell Cycle Proteins
Cells, Cultured
Child
Child, Preschool
Enhancer Elements, Genetic
Female
Gene Expression Regulation, Developmental
Haploinsufficiency
Humans
Male
Mice
Mice, Transgenic
Pedigree
Phenotype
Protein Binding
De Lange Syndrome genetics
Mutation, Missense
Nuclear Proteins genetics
Nuclear Proteins metabolism
Proteins metabolism
Transcription Factors genetics
Transcription Factors metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 50
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 29379197
- Full Text :
- https://doi.org/10.1038/s41588-018-0042-y