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Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

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.

Publication metadata

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

Year: 2019

Volume: 10

Issue: 1

Online publication date: 15/02/2019

Acceptance date: 21/01/2019

Date deposited: 26/02/2019

ISSN (electronic): 2041-1723

Publisher: Springer Nature


DOI: 10.1038/s41467-019-08673-5

PubMed id: 30770810


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Funder referenceFunder name
203105/Z/16/ZWellcome Trust