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Lookup NU author(s): Professor Bobby McFarlandORCiD,
Professor Robert Taylor
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Mitochondrial DNA (mtDNA) deletions are associated with mitochondrial disease, and also accumulate during normal human ageing. The mechanisms underlying mtDNA deletions remain unknown although several models have been proposed. Here we use deep sequencing to characterize abundant mtDNA deletions in patients with mutations in mitochondrial DNA replication factors, and show that these have distinct directionality and repeat characteristics. Furthermore, we recreate the deletion formation process in vitro using only purified mitochondrial proteins and defined DNA templates. Based on our in vivo and in vitro findings, we conclude that mtDNA deletion formation involves copy-choice recombination during replication of the mtDNA light strand.
Author(s): Persson O, Muthukumar Y, Basu S, Jenninger L, Uhler JP, Berglund A-K, McFarland R, Taylor RW, Gustafsson CM, Larsson E, Falkenberg M
Publication type: Article
Publication status: Published
Journal: Nature Communications
Online publication date: 15/02/2019
Acceptance date: 21/01/2019
Date deposited: 26/02/2019
ISSN (electronic): 2041-1723
Publisher: Springer Nature
PubMed id: 30770810
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