Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans Angela Pyle Gavin Hudson Ian J. Wilson Jonathan Coxhead Tania Smertenko Mary Herbert Mauro Santibanez-Koref Patrick F. Chinnery 10.1371/journal.pgen.1005040 https://plos.figshare.com/articles/dataset/_Extreme_Depth_Re_sequencing_of_Mitochondrial_DNA_Finds_No_Evidence_of_Paternal_Transmission_in_Humans_/1415395 <div><p>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.</p></div> 2015-05-14 03:39:16 mitochondrial DNA mtDNA haplotypes argument hinges population level uniparental transmission dilution mechanism Paternal Transmission mtDNA sequences