Article
Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
The EMBO journal - 15 Jul 2021
de Wolf Bas, Oghabian Ali, Akinyi Maureen V, Hanks Sandra, Tromer Eelco C, van Hooff Jolien J E, van Voorthuijsen Lisa, van Rooijen Laura E, Verbeeren Jens, Uijttewaal Esther C H, Baltissen Marijke P A, Yost Shawn, Piloquet Philippe, Vermeulen Michiel, Snel Berend, Isidor Bertrand, Rahman Nazneen, Frilander Mikko J, Kops Geert J P L
Abstract excerpt
Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients with constitutional mosaic aneuploidy, we identified biallelic truncating mutations in CENATAC (CCDC84). We show that CENATAC is a novel component of the minor...
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