The role of genetic selection and climatic factors in the dispersal of anatomically modern humans out of Africa.

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dc.contributor.authorTobler, R.
dc.contributor.authorSouilmi, Y.
dc.contributor.authorHuber, C.D.
dc.contributor.authorBean, N.
dc.contributor.authorTurney, C.S.M.
dc.contributor.authorGrey, S.T.
dc.contributor.authorCooper, A.
dc.date.issued2023
dc.description.abstractThe evolutionarily recent dispersal of anatomically modern humans (AMH) out of Africa (OoA) and across Eurasia provides a unique opportunity to examine the impacts of genetic selection as humans adapted to multiple new environments. Analysis of ancient Eurasian genomic datasets (~1,000 to 45,000 y old) reveals signatures of strong selection, including at least 57 hard sweeps after the initial AMH movement OoA, which have been obscured in modern populations by extensive admixture during the Holocene. The spatiotemporal patterns of these hard sweeps provide a means to reconstruct early AMH population dispersals OoA. We identify a previously unsuspected extended period of genetic adaptation lasting ~30,000 y, potentially in the Arabian Peninsula area, prior to a major Neandertal genetic introgression and subsequent rapid dispersal across Eurasia as far as Australia. Consistent functional targets of selection initiated during this period, which we term the Arabian Standstill, include loci involved in the regulation of fat storage, neural development, skin physiology, and cilia function. Similar adaptive signatures are also evident in introgressed archaic hominin loci and modern Arctic human groups, and we suggest that this signal represents selection for cold adaptation. Surprisingly, many of the candidate selected loci across these groups appear to directly interact and coordinately regulate biological processes, with a number associated with major modern diseases including the ciliopathies, metabolic syndrome, and neurodegenerative disorders. This expands the potential for ancestral human adaptation to directly impact modern diseases, providing a platform for evolutionary medicine.
dc.description.statementofresponsibilityRaymond Tobler, Yassine Souilmi, Christian D. Huber, and Alan Cooper
dc.identifier.citationProceedings of the National Academy of Sciences of USA, 2023; 120(22):e2213061120-e2213061120
dc.identifier.doi10.1073/pnas.2213061120
dc.identifier.issn0027-8424
dc.identifier.issn1091-6490
dc.identifier.orcidTobler, R. [0000-0002-4603-1473]
dc.identifier.orcidSouilmi, Y. [0000-0001-7543-4864]
dc.identifier.orcidHuber, C.D. [0000-0002-2267-2604]
dc.identifier.orcidBean, N. [0000-0002-5351-3104]
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.urihttps://hdl.handle.net/2440/138662
dc.language.isoen
dc.publisherProceedings of the National Academy of Sciences
dc.relation.granthttp://purl.org/au-research/grants/arc/DE190101069
dc.relation.granthttp://purl.org/au-research/grants/arc/DP190103705
dc.relation.granthttp://purl.org/au-research/grants/arc/FL140100260
dc.relation.granthttp://purl.org/au-research/grants/arc/DE180100883
dc.relation.granthttp://purl.org/au-research/grants/arc/CE140100049
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1189235
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1140691
dc.rights© 2023 the Author(s). Published by PNAS. This article is distributed under Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND).
dc.source.urihttps://doi.org/10.1073/pnas.2213061120
dc.subjectadaptation
dc.subjectancient DNA
dc.subjecthard sweeps
dc.subjecthuman migrations
dc.subject.meshAnimals
dc.subject.meshHumans
dc.subject.meshAcclimatization
dc.subject.meshAfrica
dc.subject.meshArabia
dc.subject.meshSelection, Genetic
dc.subject.meshNeanderthals
dc.titleThe role of genetic selection and climatic factors in the dispersal of anatomically modern humans out of Africa.
dc.typeJournal article
pubs.publication-statusPublished

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