Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

@article{Zsurka2005RecombinationOM,
  title={Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy},
  author={G{\'a}bor Zsurka and Yevgenia Kraytsberg and Tatiana Kudina and Cornelia Kornblum and Christian Erich Elger and Konstantin Khrapko and Wolfram S Kunz},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={873-877}
}
Experimental evidence for human mitochondrial DNA (mtDNA) recombination was recently obtained in an individual with paternal inheritance of mtDNA and in an in vitro cell culture system. Whether mtDNA recombination is a common event in humans remained to be determined. To detect mtDNA recombination in human skeletal muscle, we analyzed the distribution of alleles in individuals with multiple mtDNA heteroplasmy using single-cell PCR and allele-specific PCR. In all ten individuals who carried a… CONTINUE READING

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