Affiliation:
1. Department of Biological Sciences, State University of New York at Buffalo, New York 14260
2. Genetics Section, University of Chicago, Illinois 60637
3. Foundation for Research and Technology, Hellas, Greece 700 13
Abstract
Abstract
Although analysis of modern and ancient genomes showed that Neanderthals contributed genetic material to the ancestors of extant human populations, when and where Neanderthals interacted with modern human populations remain exciting...
The time, extent, and genomic effect of the introgressions from archaic humans into ancestors of extant human populations remain some of the most exciting venues of population genetics research in the past decade. Several studies have shown population-specific signatures of introgression events from Neanderthals, Denisovans, and potentially other unknown hominin populations in different human groups. Moreover, it was shown that these introgression events may have contributed to phenotypic variation in extant humans, with biomedical and evolutionary consequences. In this study, we present a comprehensive analysis of the unusually divergent haplotypes in the Eurasian genomes and show that they can be traced back to multiple introgression events. In parallel, we document hundreds of deletion polymorphisms shared with Neanderthals. A locus-specific analysis of one such shared deletion suggests the existence of a direct introgression event from the Altai Neanderthal lineage into the ancestors of extant East Asian populations. Overall, our study is in agreement with the emergent notion that various Neanderthal populations contributed to extant human genetic variation in a population-specific manner.
Publisher
Oxford University Press (OUP)
Cited by
18 articles.
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