Article
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Cell reports - 19 May 2020
Parenti Ilaria, Diab Farah, Gil Sara Ruiz, Mulugeta Eskeatnaf, Casa Valentina, Berutti Riccardo, Brouwer Rutger W W, Dupé Valerie, Eckhold Juliane, Graf Elisabeth, Puisac Beatriz, Ramos Feliciano, Schwarzmayr Thomas, Gines Macarena Moronta, van Staveren Thomas, van IJcken Wilfred F J, Strom Tim M, Pié Juan, Watrin Erwan, Kaiser Frank J, Wendt Kerstin S
Abstract excerpt
The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS). Here we report a MAU2 variant causing CdLS, a deletion of seven amino acids that impairs the interaction between MAU2 and the NIPBL N terminus. Investigating this interaction, we discovered that MAU2 and the NIPBL N terminus are largely...
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