ArticleProceedings of the National Academy of Sciences of the United States of America2022
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Interaction Between Rec8 and Mis4 Is Required for Axis-Loop Chromatin Formation and Homologous Chromosome Recombination During Meiosis.Genes to cells : devoted to molecular & cellular mechanisms · 2026Article
- CLASH (Chromatin Loop Across-sample Score Harmonizer) quantifies the relative contributions of genetic variation, methylation, and CTCF occupancy on chromatin loop strength across individuals.bioRxiv : the preprint server for biology · 2026Article
- Cohesin cofactor dosage sets the rate of loop extrusion, rendering genome folding tunable yet vulnerable to genetic disruption.Molecular cell · 2026Article
- Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.bioRxiv : the preprint server for biology · 2026Article
- Conserved 3D genome reorganization during DNA repair.Life science alliance · 2026Review
- A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in anBiomedical reports · 2025Article
- High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.BMC biology · 2025Article
- Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.bioRxiv : the preprint server for biology · 2025Article
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- The chromatin tapestry as a framework for neurodevelopment.Genome research · 2024Review
- SMC3 contributes to heart development by regulating super-enhancer associated genes.Experimental & molecular medicine · 2024Article
- 3D epigenomics and 3D epigenopathies.BMB reports · 2024Review
- Cohesin regulation and roles in chromosome structure and function.Current opinion in genetics & development · 2024Review
- Gastrulation-stage gene expression inScience advances · 2024Article
- A Bioconductor/R Workflow for the Detection and Visualization of Differential Chromatin Loops.F1000Research · 2024Article
- Article
- Chromatin loop dynamics during cellular differentiation are associated with changes to both anchor and internal regulatory features.Genome research · 2023Article
- 3D genome perspective on cell fate determination, organ regeneration, and diseases.Cell proliferation · 2023Review
- Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with NovelMolecular syndromology · 2023Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here we show that several NIPBL mutations impair the DNA loop extrusion activity of cohesin. Because this activity is required for the formation of chromatin loops and topologically associating domains, which have important roles in gene regulation, our results suggest that defects in cohesin-mediated loop extrusion contribute to the etiology of CdLS by altering interactions between developmental genes and their enhancers.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.