Article
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Proceedings of the National Academy of Sciences of the United States of America - 3 May 2022
Panarotto Melanie, Davidson Iain F, Litos Gabriele, Schleiffer Alexander, Peters Jan-Michael
Abstract excerpt
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...
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