Nature Communications (Mar 2021)
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening
- 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
Affiliations
- Ryan M. Baxley
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Wendy Leung
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Megan M. Schmit
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Jacob Peter Matson
- Department of Biochemistry and Biophysics, University of North Carolina
- Lulu Yin
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Marissa K. Oram
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Liangjun Wang
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- John Taylor
- Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
- Jack Hedberg
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Colette B. Rogers
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Adam J. Harvey
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Debashree Basu
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Jenny C. Taylor
- Wellcome Centre Human Genetics, University of Oxford
- Alistair T. Pagnamenta
- Wellcome Centre Human Genetics, University of Oxford
- Helene Dreau
- Department of Haematology, University of Oxford
- Jude Craft
- Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust
- Elizabeth Ormondroyd
- Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford
- Hugh Watkins
- Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford
- Eric A. Hendrickson
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Emily M. Mace
- Vagelos College of Physicians and Surgeons, Columbia University
- Jordan S. Orange
- Vagelos College of Physicians and Surgeons, Columbia University
- Hideki Aihara
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- Grant S. Stewart
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Edward Blair
- Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust
- Jeanette Gowen Cook
- Department of Biochemistry and Biophysics, University of North Carolina
- Anja-Katrin Bielinsky
- Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota
- DOI
- https://doi.org/10.1038/s41467-021-21878-x
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 19
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.
