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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.<\/jats:p>","DOI":"10.1073\/pnas.2201029119","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T14:23:15Z","timestamp":1651069395000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":32,"title":["Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion"],"prefix":"10.1073","volume":"119","author":[{"given":"Melanie","family":"Panarotto","sequence":"first","affiliation":[{"name":"Research Institute of Molecular Pathology, Vienna BioCenter, 1030 Vienna, Austria"},{"name":"Vienna BioCenter PhD Program, Doctoral School of the University 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