Article
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI insight - 22 Nov 2023
Abdel-Salam Ghada M H, Hellmuth Susanne, Gradhand Elise, Käseberg Stephan, Winter Jennifer, Pabst Ann-Sophie, Eid Maha M, Thiele Holger, Nürnberg Peter, Budde Birgit S, Toliat Mohammad Reza, Brecht Ines B, Schroeder Christopher, Gschwind Axel, Ossowski Stephan, Häuser Friederike, Rossmann Heidi, Abdel-Hamid Mohamed S, Hegazy Ibrahim, Mohamed Ahmed G, Schneider Dominik T, Bertoli-Avella Aida, Bauer Peter, Pearring Jillian N, Pfundt Rolph, Hoischen Alexander, Gilissen Christian, Strand Dennis, Zechner Ulrich, Tashkandi Soha A, Faqeih Eissa A, Stemmann Olaf, Strand Susanne, Bolz Hanno J
Abstract excerpt
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and homology-directed repair (HDR) of DNA double-strand breaks. We identified a homozygous MAD2L1BP nonsense variant, R253*, in 2 siblings with microcephaly, epileptic...
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