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PLoS Genet. 2015 May 14;11(5):e1005040. doi: 10.1371/journal.pgen.1005040. eCollection 2015 May.

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.

Author information

1
Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
2
Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

Abstract

Recent reports have questioned the accepted dogma that mammalian mitochondrial DNA (mtDNA) is strictly maternally inherited. In humans, the argument hinges on detecting a signature of inter-molecular recombination in mtDNA sequences sampled at the population level, inferring a paternal source for the mixed haplotypes. However, interpreting these data is fraught with difficulty, and direct experimental evidence is lacking. Using extreme-high depth mtDNA re-sequencing up to ~1.2 million-fold coverage, we find no evidence that paternal mtDNA haplotypes are transmitted to offspring in humans, thus excluding a simple dilution mechanism for uniparental transmission of mtDNA present in all healthy individuals. Our findings indicate that an active mechanism eliminates paternal mtDNA which likely acts at the molecular level.

PMID:
25973765
PMCID:
PMC4431825
DOI:
10.1371/journal.pgen.1005040
[Indexed for MEDLINE]
Free PMC Article

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