title: Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.
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.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Wilson
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Coxhead
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Tania
authors.initials: T
authors.lastname: Smertenko
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Mary
authors.initials: M
authors.lastname: Herbert
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Mauro
authors.initials: M
authors.lastname: Santibanez-Koref
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D019295:Computational Biology; D004272:DNA, Mitochondrial / Q000235:genetics / Q000302:isolation & purification*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D009865:Oocytes / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013094:Spermatozoa / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial