Nature Communications (Feb 2019)

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

  • 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

DOI
https://doi.org/10.1038/s41467-019-08673-5
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 10

Abstract

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Large-scale deletions of mitochondrial DNA (mtDNA) are associated with different human mitochondrial diseases and normal human ageing. Here the authors present a model for mtDNA formation based on generation sequencing analysis of patients samples and in vitro reconstituted mtDNA deletion using purified proteins.