Nature Genetics
37, 873 - 877 (2005)
Published online: 17 July 2005; | doi:10.1038/ng1606
Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmyGábor Zsurka1, Yevgenia Kraytsberg2, Tatiana Kudina1, Cornelia Kornblum3, Christian E Elger1, Konstantin Khrapko2
& Wolfram S Kunz11
Department of Epileptology, University Bonn Medical Center, Bonn, Germany. 2
Harvard Medical School, Boston, Massachusetts, USA. 3
Department of Neurology, University Bonn Medical Center, Bonn, Germany.
Correspondence should be addressed to Wolfram S Kunz wolfram.kunz@ukb.uni-bonn.de or Konstantin Khrapko khrapko@hms.harvard.edu Experimental evidence for human mitochondrial DNA (mtDNA) recombination was recently obtained in an individual with paternal inheritance of mtDNA1 and in an in vitro cell culture system2. 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 heteroplasmic D-loop mutation and a distantly located tRNA point mutation or a large deletion, we observed a mixture of four allelic combinations (tetraplasmy), a hallmark of recombination. Twelve of 14 individuals with closely located heteroplasmic D-loop mutation pairs contained a mixture of only three types of mitochondrial genomes (triplasmy), consistent with the absence of recombination between adjacent markers. These findings indicate that mtDNA recombination is common in human skeletal muscle.
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