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Extraordinary selection on the human X chromosome associated with archaic admixture

The X chromosome in non-African humans shows less diversity and less Neanderthal introgression than expected from neutral evolution. Analyzing 162 human male X chromosomes worldwide, we identified fourteen chromosomal regions where nearly identical haplotypes spanning several hundred kilobases are f...

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Autores principales: Skov, Laurits, Coll Macià, Moisès, Lucotte, Elise Anne, Cavassim, Maria Izabel Alvez, Castellano, David, Schierup, Mikkel Heide, Munch, Kasper
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025451/
https://www.ncbi.nlm.nih.gov/pubmed/36950386
http://dx.doi.org/10.1016/j.xgen.2023.100274
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author Skov, Laurits
Coll Macià, Moisès
Lucotte, Elise Anne
Cavassim, Maria Izabel Alvez
Castellano, David
Schierup, Mikkel Heide
Munch, Kasper
author_facet Skov, Laurits
Coll Macià, Moisès
Lucotte, Elise Anne
Cavassim, Maria Izabel Alvez
Castellano, David
Schierup, Mikkel Heide
Munch, Kasper
author_sort Skov, Laurits
collection PubMed
description The X chromosome in non-African humans shows less diversity and less Neanderthal introgression than expected from neutral evolution. Analyzing 162 human male X chromosomes worldwide, we identified fourteen chromosomal regions where nearly identical haplotypes spanning several hundred kilobases are found at high frequencies in non-Africans. Genetic drift alone cannot explain the existence of these haplotypes, which must have been associated with strong positive selection in partial selective sweeps. Moreover, the swept haplotypes are entirely devoid of archaic ancestry as opposed to the non-swept haplotypes in the same genomic regions. The ancient Ust'-Ishim male dated at 45,000 before the present (BP) also carries the swept haplotypes, implying that selection on the haplotypes must have occurred between 45,000 and 55,000 years ago. Finally, we find that the chromosomal positions of sweeps overlap previously reported hotspots of selective sweeps in great ape evolution, suggesting a mechanism of selection unique to X chromosomes.
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spelling pubmed-100254512023-03-21 Extraordinary selection on the human X chromosome associated with archaic admixture Skov, Laurits Coll Macià, Moisès Lucotte, Elise Anne Cavassim, Maria Izabel Alvez Castellano, David Schierup, Mikkel Heide Munch, Kasper Cell Genom Article The X chromosome in non-African humans shows less diversity and less Neanderthal introgression than expected from neutral evolution. Analyzing 162 human male X chromosomes worldwide, we identified fourteen chromosomal regions where nearly identical haplotypes spanning several hundred kilobases are found at high frequencies in non-Africans. Genetic drift alone cannot explain the existence of these haplotypes, which must have been associated with strong positive selection in partial selective sweeps. Moreover, the swept haplotypes are entirely devoid of archaic ancestry as opposed to the non-swept haplotypes in the same genomic regions. The ancient Ust'-Ishim male dated at 45,000 before the present (BP) also carries the swept haplotypes, implying that selection on the haplotypes must have occurred between 45,000 and 55,000 years ago. Finally, we find that the chromosomal positions of sweeps overlap previously reported hotspots of selective sweeps in great ape evolution, suggesting a mechanism of selection unique to X chromosomes. Elsevier 2023-02-28 /pmc/articles/PMC10025451/ /pubmed/36950386 http://dx.doi.org/10.1016/j.xgen.2023.100274 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Skov, Laurits
Coll Macià, Moisès
Lucotte, Elise Anne
Cavassim, Maria Izabel Alvez
Castellano, David
Schierup, Mikkel Heide
Munch, Kasper
Extraordinary selection on the human X chromosome associated with archaic admixture
title Extraordinary selection on the human X chromosome associated with archaic admixture
title_full Extraordinary selection on the human X chromosome associated with archaic admixture
title_fullStr Extraordinary selection on the human X chromosome associated with archaic admixture
title_full_unstemmed Extraordinary selection on the human X chromosome associated with archaic admixture
title_short Extraordinary selection on the human X chromosome associated with archaic admixture
title_sort extraordinary selection on the human x chromosome associated with archaic admixture
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025451/
https://www.ncbi.nlm.nih.gov/pubmed/36950386
http://dx.doi.org/10.1016/j.xgen.2023.100274
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