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

Journal article
Authors Örjan Persson
Yazh Muthukumar
Swaraj Basu
Louise Jenninger
Jay Uhler
Anna-Karin Berglund
R. McFarland
R. W. Taylor
Claes M Gustafsson
Erik Larsson
Maria Falkenberg
Published in Nature Communications
Volume 10
ISSN 2041-1723
Publication year 2019
Published at Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Language en
Links dx.doi.org/10.1038/s41467-019-08673...
Keywords external ophthalmoplegia, multiple deletions, d-loop, replication, polymerase, twinkle, disease, repeat, Science & Technology - Other Topics, hon ea, 1989, science, v244, p346
Subject categories Cell and Molecular Biology

Abstract

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.

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Denna text är utskriven från följande webbsida:
http://www.gu.se/english/research/publication/?publicationId=278183
Utskriftsdatum: 2019-06-24