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Cited by 205Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

Spatial patterns of variation due to natural selection in humans

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Novembre, John, Di Rienzo, Anna·2009·Nature Reviews Genetics
DOI 10.1038/nrg2632PMC PMC3989104
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Abstract

Empowered by technology and sampling efforts designed to facilitate genome-wide association mapping, human geneticists are now studying the geography of genetic variation in unprecedented detail. With high genomic coverage and geographic resolution, these studies are identifying loci with spatial signatures of selection, such as extreme levels of differentiation and correlations with environmental variables. Collectively, patterns at these loci are beginning to provide new insights into the process of human adaptation. Here, we review the challenges of these studies and emerging results, including how human population structure has influenced the response to novel selective pressures.

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  • Genomic investigations have provided insights into how natural selection has given rise to differences in phenotypes that vary geographically, such as skin pigmentation, lactase persistence and altitude-related physiology.

    “Genomic investigations have provided insights into how natural selection has given rise to differences in phenotypes that vary geographically, such as skin pigmentation, lactase persistence and altitude-related physiology [14–16].”

    From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [14]

    The section on geographically variable traits links skin pigmentation and lactose tolerance to environmental patterns and natural selection. The section on multiple mutations underlying adaptive phenotypes also discusses skin pigmentation and lactase persistence. Our copy does not provide a corresponding example for altitude-related physiology (searched: altitude and high-altitude hypoxia). (LLM, conf=0.86)

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  • Theories involving natural selection have long been applied in the scientific literature to explain mean phenotypic differences among human populations.

    “Theories involving natural selection have long been applied in the scientific literature to explain mean phenotypic differences among human populations [14–16].”

    From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [14]

  • To date, strong effects of directional selection on human population differences have been verifiable primarily for traits connected to predictable categories of geographic variability, including dietary adaptations, infectious disease resistance and skin pigmentation.

    “To date, strong effects of directional selection on human population differences have been verifiable primarily for traits connected to predictable categories of geographic variability, including dietary adaptations, infectious disease resistance and skin pigmentation [14–16].”

    From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [14]

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Authors
Novembre, J., & Di Rienzo, A.
Affiliations
University of California, Los Angeles (US)
Corresponding author
Novembre, John
ORCID
Novembre, John
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-10-13
Volume
10
Issue
11
Pages
745-755
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/nrg2632
PMC
PMC3989104
OpenAlex
W2001354263
Cited by
205
References
12
Citations by year
2026: 2 · 2025: 3 · 2024: 6 · 2023: 5 · 2022: 12 · 2021: 13 · 2020: 7 · 2019: 3 · 2018: 15 · 2017: 9 · 2016: 19 · 2015: 9 · 2014: 13 · 2013: 21 · 2012: 28
FWCI
2.14
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Searle Scholars Program
  • National Institute of General Medical Sciences (GM79558, R01GM079558)
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK 56670, R01DK056670)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
natural selection, human adaptation, genetic differentiation, human population structure, loci under selection, human genetic variation
MeSH terms
Animals, Humans, Selection, Genetic, Genetic Variation, Genome-Wide Association Study

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