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