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Cited by 95Forensic and Genetic ResearchEvolution and Genetic DynamicsGenetic diversity and population structure

Population genomics of human adaptation

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Lachance, Joseph, Tishkoff, Sarah A.·2013·Annual Review of Ecology, Evolution, and Systematics
DOI 10.1146/annurev-ecolsys-110512-135833PMC PMC4221232
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Abstract

Recent advances in genotyping technologies have facilitated genome-wide scans for natural selection. Detecting targets of natural selection sheds light on human evolution and it can help identify genetic variants that influence normal human phenotypic variation as well as disease susceptibility. Here we focus on studies of natural selection in modern humans who originated ∼200,000 years ago in Africa and migrated across the globe ∼50,000–100,000 years ago. Movement into new environments, as well as changes in culture and technology, including plant and animal domestication, resulted in local adaptation to diverse environments. We summarize statistical approaches for detecting targets of natural selection and for distinguishing the effects of demographic history from natural selection. On a genome-wide scale, immune-related genes are major targets of positive selection. Genes associated with reproduction and fertility also are fast evolving. Additional examples of recent human adaptation include genes associated with lactase persistence, eccrine glands, and response to hypoxia. Lastly, we emphasize the need to supplement scans of selection with functional studies to demonstrate the physiologic impact of candidate loci.

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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 [15]

  • 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 [15]

  • 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 [15]

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Authors
Lachance, J., & Tishkoff, S. A.
Affiliations
University of Pennsylvania (US)
ORCID
Venue
Annual Review of Ecology, Evolution, and Systematics
Publisher
Annual Reviews
Published
2013-11-23
Volume
44
Issue
1
Pages
123-143
ISSN
  • 1543-592X (ISSN-L)
  • 1545-2069
DOI
10.1146/annurev-ecolsys-110512-135833
PMC
PMC4221232
OpenAlex
W2097101746
Cited by
95
References
18
Citations by year
2026: 5 · 2025: 4 · 2024: 3 · 2023: 6 · 2022: 4 · 2021: 9 · 2020: 6 · 2019: 2 · 2018: 14 · 2017: 8 · 2016: 12 · 2015: 14 · 2014: 6 · 2013: 1
FWCI
1.35
Type
journal article
Language
en
Open access
Locations
  • Annual Review of Ecology Evolution and Systematics (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Human Genome Research Institute (F32HG006648)
  • National Institute of Environmental Health Sciences (DP1ES022577, P30ES013508)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
human adaptation, natural selection, population genomics, positive selection, local adaptation, demographic history, immune-related genes, reproductive genes, lactase persistence, eccrine sweat glands, hypoxia response, modern human evolution, disease susceptibility

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