ArticleNature communications2021
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Conserved 3D genome reorganization during DNA repair.Life science alliance · 2026Review
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Exploring the uncharted role of cell senescence in rare diseases.Orphanet journal of rare diseases · 2025Review
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- Article
- BRD4 Degradation Enhanced Glioma Sensitivity to Temozolomide by Regulating Notch1 via Glu-Modified GSH-Responsive Nanoparticles.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.Nucleic acids research · 2024Article
- IDR-targeting compounds suppress HPV genome replication via disruption of phospho-BRD4 association with DNA damage response factors.Molecular cell · 2024Article
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.Development (Cambridge, England) · 2024Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
- Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.The international journal of cardiovascular imaging · 2022Article
- Cohesin couples transcriptional bursting probabilities of inducible enhancers and promoters.Nature communications · 2022Article
- Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.Human molecular genetics · 2022Article
- Recruitment of Scc2/4 to double-strand breaks depends on γH2A and DNA end resection.Life science alliance · 2022Article
- Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.Scientific reports · 2021Article
- Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.Nature communications · 2021Article
- Review
- BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.Frontiers in molecular biosciences · 2021Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in BRD4 associated with a Cornelia de Lange-like syndrome that reduces BRD4 binding to acetylated histones. Here we show that, although this mutation reduces BRD4-occupancy at enhancers it does not affect transcription of the pluripotency network in mouse embryonic stem cells. Rather, it delays the cell cycle, increases DNA damage signalling, and perturbs regulation of DNA repair in mutant cells. This uncovers a role for BRD4 in DNA repair pathway choice. Furthermore, we find evidence of a similar increase in DNA damage signalling in cells derived from NIPBL-deficient individuals, suggesting that defective DNA damage signalling and repair is also a feature of typical Cornelia de Lange syndrome.
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Registered trials
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