RT Journal Article SR Electronic T1 Mitochondrial pseudogenes suggest repeated inter-species hybridization among direct human ancestors JF bioRxiv FD Cold Spring Harbor Laboratory SP 134502 DO 10.1101/134502 A1 Konstantin Popadin A1 Konstantin Gunbin A1 Leonid Peshkin A1 Sofia Annis A1 Zoe Fleischmann A1 Genya Kraytsberg A1 Natalya Markuzon A1 Rebecca R. Ackermann A1 Konstantin Khrapko YR 2017 UL http://biorxiv.org/content/early/2017/10/19/134502.abstract AB The hypothesis that the evolution of humans involved hybridization between diverged species has been actively debated in recent years. We present novel evidence in support of this hypothesis: the analysis of nuclear pseudogenes of mtDNA (“NUMTs”). NUMTs are considered “mtDNA fossils”, as they preserve sequences of ancient mtDNA and thus carry unique information about ancestral populations. Our comparison of a NUMT sequence shared by humans, chimpanzees, and gorillas with their mtDNAs implies that, around the time of divergence between humans and chimpanzees, our evolutionary history involved the interbreeding of individuals whose mtDNA had diverged as much as ~4.5 Myr prior. This large divergence suggests a distant interspecies hybridization. Additionally, analysis of two other NUMTs suggests that such events occurred repeatedly. Our findings suggest a complex pattern of speciation in primate human ancestors and provide a potential explanation for the mosaic nature of fossil morphology found at the emergence of the hominin lineage.