TY - JOUR T1 - Reappraising the human mitochondrial DNA recombination dogma JF - bioRxiv DO - 10.1101/304535 SP - 304535 AU - Simόn Perera AU - Amanda Ramos AU - Luis Alvarez AU - Débora Jurado AU - Maria Guardiola AU - Manuela Lima AU - Maria Pilar Aluja AU - Cristina Santos Y1 - 2018/01/01 UR - http://biorxiv.org/content/early/2018/04/19/304535.abstract N2 - With the “mitochondrial Eve” theory proposed by Rebecca Cann in the eighties, human mitochondrial DNA (mtDNA) has been used as a tool in studying human variation and evolution. Although the existence of recombination in human mtDNA has been previously advocated, studies dealing with human variation and evolution have assumed that human mtDNA does not recombine and should be considered as pathological or very infrequent. Using both direct and indirect approaches, we provide consistent evidence of mtDNA recombination in humans. We applied the single molecule PCR procedure to directly test for recombination in multiheteroplasmic individuals without any overt pathology. Moreover, we searched for past recombination events in the whole mitochondrial genomes of more than 15,000 individuals. Results from our study update and expand both the seminal indirect findings and the scarce direct evidence observed to date, paving the way for the definitive rejection of the non-recombination dogma for human mtDNA. Acknowledgment of recombination as a frequent event in mtDNA will require the description of the population recombination rate(s) and to apply it to past and future studies involving mtDNA. MtDNA recombination affects our knowledge of human evolutionary history, regarding haplogroup divergence times, as well as the time to the mitochondrial most recent common ancestor. Finally, mtDNA recombination will have a substantial impact on our understanding of the etiology and transmission of mitochondrial diseases. ER -