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

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Emerging evidence raises the possibility that human mitochondrial DNA (mtDNA) is not strictly maternally inherited, but it has not been technically possible to test this hypothesis directly. We identified trios with discordant mtDNA haplotypes, parent-offspring trios were validated using polymorphic microsatellites, and then used extreme-high depth mtDNA re-sequencing to look for paternally transmitted mtDNA. Despite having up to ~1.2 million-fold coverage of mtDNA, we find no evidence that paternal mtDNA haplotypes are transmitted to offspring in humans. Our findings exclude a simple dilution mechanism for uniparental transmission of mtDNA present in all healthy individuals.

Vyšlo v časopise: Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans. PLoS Genet 11(5): e32767. doi:10.1371/journal.pgen.1005040
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005040

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