Literature DB >> 29379197

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

Gabrielle Olley1, Morad Ansari1, Hemant Bengani1, Graeme R Grimes2, James Rhodes3, Alex von Kriegsheim2, Ana Blatnik1,4, Fiona J Stewart5, Emma Wakeling6, Nicola Carroll7, Alison Ross8, Soo-Mi Park9, Wendy A Bickmore10, Madapura M Pradeepa11,12, David R FitzPatrick13.   

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.

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29379197      PMCID： PMC6469577          DOI： 10.1038/s41588-018-0042-y

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  1 in total

1.  Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.

Authors:  Christopher Bot; Annika Pfeiffer; Fosco Giordano; Dharani E Manjeera; Nico P Dantuma; Lena Ström
Journal:  J Cell Sci       Date:  2017-02-06       Impact factor: 5.285
  1 in total
  31 in total

Review 1.  The Many Roles of Cohesin in Drosophila Gene Transcription.

Authors:  Dale Dorsett
Journal:  Trends Genet       Date:  2019-05-23       Impact factor: 11.639

2.  Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Authors:  Hiromi Aoi; Takeshi Mizuguchi; José Ricard Ceroni; Veronica Eun Hue Kim; Isabel Furquim; Rachel S Honjo; Takuma Iwaki; Toshifumi Suzuki; Futoshi Sekiguchi; Yuri Uchiyama; Yoshiteru Azuma; Kohei Hamanaka; Eriko Koshimizu; Satoko Miyatake; Satomi Mitsuhashi; Atsushi Takata; Noriko Miyake; Satoru Takeda; Atsuo Itakura; Débora R Bertola; Chong Ae Kim; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2019-07-23       Impact factor: 3.172

Review 3.  Enhancers: bridging the gap between gene control and human disease.

Authors:  Jaret M Karnuta; Peter C Scacheri
Journal:  Hum Mol Genet       Date:  2018-08-01       Impact factor: 6.150

4.  BRD4 orchestrates genome folding to promote neural crest differentiation.

Authors:  Ricardo Linares-Saldana; Wonho Kim; Nikhita A Bolar; Haoyue Zhang; Bailey A Koch-Bojalad; Sora Yoon; Parisha P Shah; Ashley Karnay; Daniel S Park; Jennifer M Luppino; Son C Nguyen; Arun Padmanabhan; Cheryl L Smith; Andrey Poleshko; Qiaohong Wang; Li Li; Deepak Srivastava; Golnaz Vahedi; Gwang Hyeon Eom; Gerd A Blobel; Eric F Joyce; Rajan Jain
Journal:  Nat Genet       Date:  2021-10-05       Impact factor: 38.330

5.  Targeting Bromodomain and Extraterminal Proteins for Drug Discovery: From Current Progress to Technological Development.

Authors:  Pan Tang; Jifa Zhang; Jie Liu; Cheng-Ming Chiang; Liang Ouyang
Journal:  J Med Chem       Date:  2021-02-22       Impact factor: 7.446

Review 6.  The multiple facets of the SMC1A gene.

Authors:  Antonio Musio
Journal:  Gene       Date:  2020-03-25       Impact factor: 3.688

7.  Comparative structure-function analysis of bromodomain and extraterminal motif (BET) proteins in a gene-complementation system.

Authors:  Michael T Werner; Hongxin Wang; Nicole Hamagami; Sarah C Hsu; Jennifer A Yano; Aaron J Stonestrom; Vivek Behera; Yichen Zhong; Joel P Mackay; Gerd A Blobel
Journal:  J Biol Chem       Date:  2019-12-02       Impact factor: 5.157

Review 8.  Long-range enhancer-promoter contacts in gene expression control.

Authors:  Stefan Schoenfelder; Peter Fraser
Journal:  Nat Rev Genet       Date:  2019-08       Impact factor: 53.242

9.  Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.

Authors:  Felix D Weiss; Lesly Calderon; Yi-Fang Wang; Radina Georgieva; Ya Guo; Nevena Cvetesic; Maninder Kaur; Gopuraja Dharmalingam; Ian D Krantz; Boris Lenhard; Amanda G Fisher; Matthias Merkenschlager
Journal:  Nat Commun       Date:  2021-05-18       Impact factor: 14.919

10.  Cohesin complex-associated holoprosencephaly.

Authors:  Paul Kruszka; Seth I Berger; Valentina Casa; Mike R Dekker; Jenna Gaesser; Karin Weiss; Ariel F Martinez; David R Murdock; Raymond J Louie; Eloise J Prijoles; Angie W Lichty; Oebele F Brouwer; Evelien Zonneveld-Huijssoon; Mark J Stephan; Jacob Hogue; Ping Hu; Momoko Tanima-Nagai; Joshua L Everson; Chitra Prasad; Anna Cereda; Maria Iascone; Allison Schreiber; Vickie Zurcher; Nicole Corsten-Janssen; Luis Escobar; Nancy J Clegg; Mauricio R Delgado; Omkar Hajirnis; Meena Balasubramanian; Hülya Kayserili; Matthew Deardorff; Raymond A Poot; Kerstin S Wendt; Robert J Lipinski; Maximilian Muenke
Journal:  Brain       Date:  2019-09-01       Impact factor: 13.501
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.