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Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Authors :
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)
Publication Year :
2021
Publisher :
Nature Portfolio, 2021.

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
12
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.fcda6dd35e9949f888622bfe0a813011
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-021-21878-x