Quasi-Mendelian Paternal Inheritance of mitochondrial DNA: A notorious artifact, or anticipated mtDNA behavior?

Annis, Sofia; Fleischmann, Zoë; Khrapko, Mark; Franco, Melissa; Wasko, Kevin; Woods, Dori C.; Kunz, Wolfram S.; Ellis, Peter J. I.; Khrapko, Konstantin

doi:10.1101/660670

Cited by 1 publication

(1 citation statement)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Both results could imply the involvement of some sort of selective process. At least one group has come out in favor of this model, arguing that if one of the paternal mtDNA possesses a proliferative advantage over the other, that this fact combined with the random partitioning of mtDNA during sperm development would be sufficient to create the autosomal-like dominant transmission pattern we have observed in these families for paternal mtDNA [36]. In support of this hypothesis, at least one study has shown that mice carrying heteroplasmic mixtures of mtDNA from different genetic backgrounds demonstrate preferential segregation of some mtDNAs over others [21].…”

Section: Discussionmentioning

confidence: 99%

Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA

Slone¹,

Zou

Luo³

et al. 2020

Preprint

View full text Add to dashboard Cite

With very few exceptions, mitochondrial DNA (mtDNA) in humans is transmitted exclusively from mothers to their offspring, suggesting the presence of a strong evolutionary pressure favoring the exclusion of paternal mtDNA. We have recently shown strong evidence of paternal mtDNA transmission. In these rare situations, males exhibiting biparental mtDNA appear to be limited to transmitting just one of the mtDNA species to their offspring, while females possessing biparental mtDNA populations consistently transmit both populations to their offspring at a very similar heteroplasmy level. The precise biological and genetic factors underlying this unusual transmission event remain unclear. Here, we have examined heteroplasmy levels in various tissues among individuals with biparental inheritance. Our results indicate that individuals with biparental mtDNA have remarkable inter-tissue variability in heteroplasmy level. At the single-cell level, paternal mtDNA heteroplasmy in sperm varies dramatically, and many sperm possess only one of the two mtDNA populations originally in question. These results show a fundamental, parent-of-origin difference in how mtDNA molecules transmit and propagate. This helps explain how a single population of mtDNAs are transmitted from a father possessing two populations of mtDNA molecules, suggesting that some mtDNA populations may be favored over others when transmitted from the father.

show abstract

Section: Discussionmentioning

confidence: 99%