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2017 ; 18
(1
): 61
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Functional implications of Neandertal introgression in modern humans
#MMPMID28366169
Dannemann M
; Prüfer K
; Kelso J
Genome Biol
2017[Apr]; 18
(1
): 61
PMID28366169
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BACKGROUND: Admixture between early modern humans and Neandertals approximately
50,000-60,000 years ago has resulted in 1.5-4% Neandertal ancestry in the genomes
of present-day non-Africans. Evidence is accumulating that some of these archaic
alleles are advantageous for modern humans, while others are deleterious;
however, the major mechanism by which these archaic alleles act has not been
fully explored. RESULTS: Here we assess the contributions of introgressed
non-synonymous and regulatory variants to modern human protein and gene
expression variation. We show that gene expression changes are more often
associated with Neandertal ancestry than expected, and that the introgressed
non-synonymous variants tend to have less predicted functional effect on modern
human proteins than mutations that arose on the human lineage. Conversely,
introgressed alleles contribute proportionally more to expression variation than
non-introgressed alleles. CONCLUSIONS: Our results suggest that the major
influence of Neandertal introgressed alleles is through their effects on gene
regulation.
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