Mitochondrial pseudogenes, gene flow among African hominins and homo heidelbergensis
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18
PLENARY LECTURES
MITOCHONDRIAL PSEUDOGENES, GENE FLOW AMONG AFRICAN
HOMININS AND HOMO HEIDELBERGENSIS
Ovchinnikov Igor
Department of Biology and Forensic Science Program, University of North Dakota, Grand Forks, USA
Mitochondrial pseudogenes or nuclear DNA sequences of mitochondrial origin (numts) represent the fossils
of vanished mtDNA molecules. <...> Recent numt sequences have been inserted into the human nuclear genome
after the reproductive separation of the hominin and chimpanzee lineages. <...> In 2010 I characterized a 5841-bp
numt on the human chromosome 1p36.33, called mtAncestor-1, and made a conclusion that it is likely to be a
molecular relic of the mtDNA of Homo heidelbergensis. <...> MtAncestor-1 was transferred into the nuclear genome
of a common ancestor of Neanderthals and modern humans approximately 620,000 (440,000–820,000) years
ago. <...> In 2010 and 2014 the mtDNA sequences were published from the hominin remains found in Denisova
Cave (Siberia, Russia) and Sima de los Huesos (SH) Cave (northern Spain). <...> Phylogenetic analysis placed both
sequences in the same group as mtAncestor-1 with a strong statistical support. <...> This group diverged 840,000
(610,000–1,100,000) years ago from another cluster composing of the modern human and Neanderthal
mtDNA sequences. <...> The subsequent divergence of the human and Neanderthal mtDNAs starting 450,000
(320,000–600,000) years ago as well as the evolutionary radiation of the heidelbergensis-like (mtAncestor1,
Denisova and SH) mtDNAs approximately 570,000 (390,000–790,000) years ago demonstrated a deep
division of mtDNA lineages that existed among African hominins in the Lower and Middle Pleistocene. <...> The
transposition of the heidelbergensis-like mtDNA to the modern human and Neanderthal nuclear genomes
provided for the fi rst time the genetic evidence of gene fl ow from one African hominin group to another. <...> This
mtDNA illustrates the evolutionary connections between the African H. heidelbergensis, the Denisova and SH
hominins of Eurasia, and the ancestral African population of modern humans and Neanderthals. <...> Assuming
that the SH hominins belonged to the Neanderthal lineage, it is plausible to suggest the broad distribution of
the heidelbergensis-like mtDNA outside Africa among the Eurasian hominins, including the daughter lineages
of H. heidelbergensis and the primitive forms of Neanderthals. <...> Instead, the ancient
genome data should be considered in conjunction with paleoanthropological record. <...> Key words: mitochondrial pseudogenes, mtAncestor-1, Homo heidelbergensis, mtDNA <...>
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