Evidence for archaic adaptive introgression in humans

Fernando Racimo; Sriram Sankararaman; Rasmus Nielsen; Emilia Huerta-Sánchez

doi:10.1038/nrg3936

Evidence for archaic adaptive introgression in humans

Fernando Racimo, Sriram Sankararaman, Rasmus Nielsen, Emilia Huerta-Sánchez^*

^*Corresponding author af dette arbejde

232 Citationer (Scopus)

Abstract

As modern and ancient DNA sequence data from diverse human populations accumulate, evidence is increasing in support of the existence of beneficial variants acquired from archaic humans that may have accelerated adaptation and improved survival in new environments-a process known as adaptive introgression. Within the past few years, a series of studies have identified genomic regions that show strong evidence for archaic adaptive introgression. Here, we provide an overview of the statistical methods developed to identify archaic introgressed fragments in the genome sequences of modern humans and to determine whether positive selection has acted on these fragments. We review recently reported examples of adaptive introgression, grouped by selection pressure, and consider the level of supporting evidence for each. Finally, we discuss challenges and recommendations for inferring selection on introgressed regions.

Originalsprog	Engelsk
Tidsskrift	Nature Reviews Genetics
Vol/bind	16
Udgave nummer	6
Sider (fra-til)	359-371
Antal sider	13
ISSN	1471-0056
DOI	https://doi.org/10.1038/nrg3936
Status	Udgivet - 18 maj 2015

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AU - Racimo, Fernando

AU - Sankararaman, Sriram

AU - Nielsen, Rasmus

AU - Huerta-Sánchez, Emilia

PY - 2015/5/18

Y1 - 2015/5/18

N2 - As modern and ancient DNA sequence data from diverse human populations accumulate, evidence is increasing in support of the existence of beneficial variants acquired from archaic humans that may have accelerated adaptation and improved survival in new environments-a process known as adaptive introgression. Within the past few years, a series of studies have identified genomic regions that show strong evidence for archaic adaptive introgression. Here, we provide an overview of the statistical methods developed to identify archaic introgressed fragments in the genome sequences of modern humans and to determine whether positive selection has acted on these fragments. We review recently reported examples of adaptive introgression, grouped by selection pressure, and consider the level of supporting evidence for each. Finally, we discuss challenges and recommendations for inferring selection on introgressed regions.

AB - As modern and ancient DNA sequence data from diverse human populations accumulate, evidence is increasing in support of the existence of beneficial variants acquired from archaic humans that may have accelerated adaptation and improved survival in new environments-a process known as adaptive introgression. Within the past few years, a series of studies have identified genomic regions that show strong evidence for archaic adaptive introgression. Here, we provide an overview of the statistical methods developed to identify archaic introgressed fragments in the genome sequences of modern humans and to determine whether positive selection has acted on these fragments. We review recently reported examples of adaptive introgression, grouped by selection pressure, and consider the level of supporting evidence for each. Finally, we discuss challenges and recommendations for inferring selection on introgressed regions.

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Evidence for archaic adaptive introgression in humans

Abstract

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