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Apportioning archaic variants among modern populations

The apportionment of human genetic diversity within and between populations has been measured to understand human relatedness and demographic history. Likewise, the distribution of archaic ancestry in modern populations can be leveraged to better understand the interaction between our species and it...

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Autores principales: Witt, Kelsey E., Villanea, Fernando, Loughran, Elle, Zhang, Xinjun, Huerta-Sanchez, Emilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014186/
https://www.ncbi.nlm.nih.gov/pubmed/35430882
http://dx.doi.org/10.1098/rstb.2020.0411
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author Witt, Kelsey E.
Villanea, Fernando
Loughran, Elle
Zhang, Xinjun
Huerta-Sanchez, Emilia
author_facet Witt, Kelsey E.
Villanea, Fernando
Loughran, Elle
Zhang, Xinjun
Huerta-Sanchez, Emilia
author_sort Witt, Kelsey E.
collection PubMed
description The apportionment of human genetic diversity within and between populations has been measured to understand human relatedness and demographic history. Likewise, the distribution of archaic ancestry in modern populations can be leveraged to better understand the interaction between our species and its archaic relatives. Resolving the interactions between modern and archaic human populations can be difficult, as archaic variants in modern populations have been shaped by genetic drift, bottlenecks and gene flow. Here, we investigate the distribution of archaic variation in Eurasian populations. We find that archaic ancestry coverage at the individual- and population-level present distinct patterns in modern human populations: South Asians have nearly twice the number of population-unique archaic alleles compared with Europeans or East Asians, indicating that these populations experienced differing demographic and archaic admixture events. We confirm previous observations that East Asian individuals have more Neanderthal ancestry than European individuals, but surprisingly, when we compare the number of single nucleotide polymorphisms with archaic alleles found across a population, Europeans have more Neanderthal ancestry than East Asians. We compare these results to simulated models and conclude that these patterns are consistent with multiple admixture events between modern humans and Neanderthals. This article is part of the theme issue ‘Celebrating 50 years since Lewontin's apportionment of human diversity’.
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spelling pubmed-90141862022-04-21 Apportioning archaic variants among modern populations Witt, Kelsey E. Villanea, Fernando Loughran, Elle Zhang, Xinjun Huerta-Sanchez, Emilia Philos Trans R Soc Lond B Biol Sci Articles The apportionment of human genetic diversity within and between populations has been measured to understand human relatedness and demographic history. Likewise, the distribution of archaic ancestry in modern populations can be leveraged to better understand the interaction between our species and its archaic relatives. Resolving the interactions between modern and archaic human populations can be difficult, as archaic variants in modern populations have been shaped by genetic drift, bottlenecks and gene flow. Here, we investigate the distribution of archaic variation in Eurasian populations. We find that archaic ancestry coverage at the individual- and population-level present distinct patterns in modern human populations: South Asians have nearly twice the number of population-unique archaic alleles compared with Europeans or East Asians, indicating that these populations experienced differing demographic and archaic admixture events. We confirm previous observations that East Asian individuals have more Neanderthal ancestry than European individuals, but surprisingly, when we compare the number of single nucleotide polymorphisms with archaic alleles found across a population, Europeans have more Neanderthal ancestry than East Asians. We compare these results to simulated models and conclude that these patterns are consistent with multiple admixture events between modern humans and Neanderthals. This article is part of the theme issue ‘Celebrating 50 years since Lewontin's apportionment of human diversity’. The Royal Society 2022-06-06 2022-04-18 /pmc/articles/PMC9014186/ /pubmed/35430882 http://dx.doi.org/10.1098/rstb.2020.0411 Text en © 2022 The Authors. https://creativecommons.org/licenses/by/4.0/Published by the Royal Society under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, provided the original author and source are credited.
spellingShingle Articles
Witt, Kelsey E.
Villanea, Fernando
Loughran, Elle
Zhang, Xinjun
Huerta-Sanchez, Emilia
Apportioning archaic variants among modern populations
title Apportioning archaic variants among modern populations
title_full Apportioning archaic variants among modern populations
title_fullStr Apportioning archaic variants among modern populations
title_full_unstemmed Apportioning archaic variants among modern populations
title_short Apportioning archaic variants among modern populations
title_sort apportioning archaic variants among modern populations
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014186/
https://www.ncbi.nlm.nih.gov/pubmed/35430882
http://dx.doi.org/10.1098/rstb.2020.0411
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