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Mitochondrial pseudogenes suggest repeated inter-species hybridization among direct human ancestors

2017/05/09 by Konstantin Popadin, Konstantin Gunbin, Leonid Peshkin +6 · 2 citations
Biochemistry, Genetics and Molecular Biology · Social Sciences · #Forensic and Genetic Research #Pleistocene-Era Hominins and Archaeology #Mitochondrial Function and Pathology

paper · pdf · doi:10.1101/134502

openalex publication_date 2017/05/09 · openalex created_date 2017/05/19 · openalex updated_date 2026/07/14

Abstract

Abstract 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.

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