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Novel alleles gained during the Beringian isolation period

Niedbalski, Sara D., Long, Jeffrey C.·2022·Scientific Reports
DOI 10.1038/s41598-022-08212-1PMC PMC8917172
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Abstract

During the Last Glacial Maximum, a small band of Siberians entered the Beringian corridor, where they persisted, isolated from gene flow, for several thousand years before expansion into the Americas. The ecological features of the Beringian environment, coupled with an extended period of isolation at small population size, would have provided evolutionary opportunity for novel genetic variation to arise as both rare standing variants and new mutations were driven to high frequency through both neutral and directed processes. Here we perform a full genome investigation of Native American populations in the Thousand Genomes Project Phase 3 to identify unique high frequency alleles that can be dated to an origin in Beringia. Our analyses demonstrate that descendant populations of Native Americans harbor 20,424 such variants, which is on a scale comparable only to Africa and the Out of Africa bottleneck. This is consistent with simulations of a serial founder effects model. Tests for selection reveal that some of these Beringian variants were likely driven to high frequency by adaptive processes, and bioinformatic analyses suggest possible phenotypic pathways that were under selection during the Beringian Isolation period. Specifically, pathways related to cardiac processes and melanocyte function appear to be enriched for selected Beringian variants.

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  • The ANA population on the BLB was recently derived from the Arctic, most likely the GAP/arctic Beringia (not the NE Asian maritime zone).

    “We also conclude—based on the genetic ‘arctic signal’ found throughout arctic and non-arctic First Peoples—that the ANA population on the BLB was recently derived from the Arctic, most likely the GAP/arctic Beringia (not the NE Asian maritime zone) [73,86,95].”

    From Beringia and the peopling of the Western Hemisphere (2023) · cites this paper as [86]

  • Niedbalski & Long attributed more than 20 000 high frequency alleles among living Native American populations to high latitude adaptation, including genes related to diet, cardiac processes and production of melanin in skin, hair and eyes.

    “In a recent paper, Niedbalski & Long attributed more than 20 000 high frequency alleles among living Native American populations to high latitude adaptation, including genes related to diet, cardiac processes and production of melanin in skin, hair and eyes [86].”

    From Beringia and the peopling of the Western Hemisphere (2023) · cites this paper as [86]

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Metadata

Authors
Niedbalski, S. D., & Long, J. C.
Venue
Scientific Reports
Publisher
Springer Science and Business Media LLC
Published
2022-03-11
Volume
12
Issue
1
ISSN
2045-2322
DOI
10.1038/s41598-022-08212-1
PMC
PMC8917172
Cited by
13
References
7
Language
en
Licence
Funders
National Institutes for Water Resources (NIH 1T32EB009414-01)

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