Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 119, Issue 18, Pages -Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.2201029119
Keywords
cohesin; Cornelia de Lange syndrome; developmental disorder; DNA loop extrusion; NIPBL
Categories
Funding
- Boehringer Ingelheim
- Austrian Research Promotion Agency [FFG-852936]
- European Research Council under the European Union [693949, 101020558]
- Human Frontier Science Program [RGP0057/2018]
- Vienna Science and Technology Fund [LS19-029]
- European Research Council (ERC) [101020558, 693949] Funding Source: European Research Council (ERC)
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Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder associated with NIPBL gene mutations. The study shows that NIPBL mutations impair the DNA loop extrusion activity of cohesin, which affects the interactions between developmental genes and their enhancers, potentially contributing to the etiology of CdLS.
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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