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

Author

Listed:
  • Örjan Persson

    (University of Gothenburg, P.O. Box 440)

  • Yazh Muthukumar

    (University of Gothenburg, P.O. Box 440)

  • Swaraj Basu

    (University of Gothenburg, P.O. Box 440)

  • Louise Jenninger

    (University of Gothenburg, P.O. Box 440)

  • Jay P. Uhler

    (University of Gothenburg, P.O. Box 440)

  • Anna-Karin Berglund

    (University of Gothenburg, P.O. Box 440)

  • Robert McFarland

    (Newcastle University)

  • Robert W. Taylor

    (Newcastle University)

  • Claes M. Gustafsson

    (University of Gothenburg, P.O. Box 440)

  • Erik Larsson

    (University of Gothenburg, P.O. Box 440)

  • Maria Falkenberg

    (University of Gothenburg, P.O. Box 440)

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.

Suggested Citation

  • Örjan Persson & Yazh Muthukumar & Swaraj Basu & Louise Jenninger & Jay P. Uhler & Anna-Karin Berglund & Robert McFarland & Robert W. Taylor & Claes M. Gustafsson & Erik Larsson & Maria Falkenberg, 2019. "Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions," Nature Communications, Nature, vol. 10(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-08673-5
    DOI: 10.1038/s41467-019-08673-5
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