Functional implications of Neandertal introgression in modern humans
Abstract 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...
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doaj-3bcc556c69384efd9e49ba24b4895b112020-11-24T21:10:31ZengBMCGenome Biology1474-760X2017-04-0118111110.1186/s13059-017-1181-7Functional implications of Neandertal introgression in modern humansMichael Dannemann0Kay Prüfer1Janet Kelso2Max Planck Institute for Evolutionary AnthropologyMax Planck Institute for Evolutionary AnthropologyMax Planck Institute for Evolutionary AnthropologyAbstract 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.http://link.springer.com/article/10.1186/s13059-017-1181-7Neandertal introgressionGene expression regulationProtein sequence variationHuman evolution |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Michael Dannemann Kay Prüfer Janet Kelso |
spellingShingle |
Michael Dannemann Kay Prüfer Janet Kelso Functional implications of Neandertal introgression in modern humans Genome Biology Neandertal introgression Gene expression regulation Protein sequence variation Human evolution |
author_facet |
Michael Dannemann Kay Prüfer Janet Kelso |
author_sort |
Michael Dannemann |
title |
Functional implications of Neandertal introgression in modern humans |
title_short |
Functional implications of Neandertal introgression in modern humans |
title_full |
Functional implications of Neandertal introgression in modern humans |
title_fullStr |
Functional implications of Neandertal introgression in modern humans |
title_full_unstemmed |
Functional implications of Neandertal introgression in modern humans |
title_sort |
functional implications of neandertal introgression in modern humans |
publisher |
BMC |
series |
Genome Biology |
issn |
1474-760X |
publishDate |
2017-04-01 |
description |
Abstract 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. |
topic |
Neandertal introgression Gene expression regulation Protein sequence variation Human evolution |
url |
http://link.springer.com/article/10.1186/s13059-017-1181-7 |
work_keys_str_mv |
AT michaeldannemann functionalimplicationsofneandertalintrogressioninmodernhumans AT kayprufer functionalimplicationsofneandertalintrogressioninmodernhumans AT janetkelso functionalimplicationsofneandertalintrogressioninmodernhumans |
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