학술논문
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
Document Type
article
Author
Ryan M. Baxley; Wendy Leung; Megan M. Schmit; Jacob Peter Matson; Lulu Yin; Marissa K. Oram; Liangjun Wang; John Taylor; Jack Hedberg; Colette B. Rogers; Adam J. Harvey; Debashree Basu; Jenny C. Taylor; Alistair T. Pagnamenta; Helene Dreau; Jude Craft; Elizabeth Ormondroyd; Hugh Watkins; Eric A. Hendrickson; Emily M. Mace; Jordan S. Orange; Hideki Aihara; Grant S. Stewart; Edward Blair; Jeanette Gowen Cook; Anja-Katrin Bielinsky
Source
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrains telomerase activity.