In This Article Expand or collapse the "in this article" section Natural Selection in Human Populations

  • Introduction
  • General Overviews
  • Selection on Regulatory Elements
  • Selection and Disease
  • Challenges

Evolutionary Biology Natural Selection in Human Populations
Amy Goldberg, Lawrence H. Uricchio, Noah A. Rosenberg
  • LAST REVIEWED: 25 August 2022
  • LAST MODIFIED: 28 August 2018
  • DOI: 10.1093/obo/9780199941728-0112


Natural selection, the process by which heritable individual differences that contribute to variation in survival and reproduction lead to changes in attributes of a population (see Oxford Bibliographies article Natural Selection), has been an important force in human evolution. Selection has played an essential role in human differentiation from apelike ancestors and in the adaptation of humans to diverse environments around the world (see Oxford Bibliographies article Human Adaptability). The study of natural selection in humans has largely fallen in the realm of population genetics (see Oxford Bibliographies article Population Genetics). Many forms of natural selection—including positive selection (the increase in frequency of advantageous alleles), purifying selection (the removal of deleterious alleles), and balancing selection (the maintenance of polymorphism due to heterozygote advantage or frequency-dependent selection)—have been examined in humans. Particular emphasis has been placed on positive selection and its role in producing geographic variation and local adaptation (see Oxford Bibliographies article Adaptation), and on detecting natural selection from population-genetic data (see Oxford Bibliographies article Detecting Natural Selection in the Genome).

General Overviews

Several reviews have considered the population-genetic study of natural selection in human populations, emphasizing to a different extent the driving selective pressures, statistical methods for detecting natural selection from patterns of genetic variation, and observations in human data. Some overviews focus on the particular patterns of human genetic variation, interpreting them in relation to processes of natural selection and the history of natural selection in humans (Sabeti, et al. 2006; Fu and Akey 2013; Lachance and Tishkoff 2013; Scheinfeldt and Tishkoff 2013). Others consider the detection of evidence of natural selection in general, using humans as an example of population-genetic methods (Kreitman 2000; Nielsen 2005; Vitti, et al. 2013). Reviews often place an emphasis on specific mechanisms of natural selection, their consequences for human genetic variation, and the evidence of their importance (Sabeti, et al. 2006; Fu and Akey 2013; Key, et al. 2014).

  • Fu, W., and J. M. Akey. 2013. Selection and adaptation in the human genome. Annual Review of Genomics and Human Genetics 14:467–489.

    DOI: 10.1146/annurev-genom-091212-153509

    A review emphasizing processes of natural selection and their effects on human genetic variation.

  • Key, F. M., J. C. Teixeira, C. de Filippo, and A. M. Andres. 2014. Advantageous diversity maintained by balancing selection in humans. Current Opinion in Genetics and Development 29:45–51.

    DOI: 10.1016/j.gde.2014.08.001

    A review of balancing selection in humans and methods for identifying it.

  • Kreitman, M. 2000. Methods to detect selection in populations with applications to the human. Annual Review of Genomics and Human Genetics 1:539–559.

    DOI: 10.1146/annurev.genom.1.1.539

    A discussion of tests of selection and the ways in which they identify signatures of multiple forms of selection, with an emphasis on scenarios in humans and Drosophila.

  • Lachance, J., and S. A. Tishkoff. 2013. Population genomics of human adaptation. Annual Review of Ecology, Evolution, and Systematics 44:123–143.

    DOI: 10.1146/annurev-ecolsys-110512-135833

    A review focusing on specific selection pressures and adaptations that have had a significant impact in human evolution.

  • Nielsen, R. 2005. Molecular signatures of natural selection. Annual Review of Genetics 39:197–218.

    DOI: 10.1146/annurev.genet.39.073003.112420

    A review of the patterns that different forms of natural selection leave in population-genetic data.

  • Sabeti, P. C., S. F. Schaffner, and B. Fry, et al. 2006. Positive natural selection in the human lineage. Science 312:1614–1620.

    DOI: 10.1126/science.1124309

    An overview of positive selection detection methods and observations in humans, with an emphasis on selection at different time scales.

  • Scheinfeldt, L. B., and S. A. Tishkoff. 2013. Recent human adaptation: Genomic approaches, interpretation and insights. Nature Reviews Genetics 14:692–702.

    DOI: 10.1038/nrg3604

    A review of signatures of natural selection in humans and the effort to identify candidate alleles and their functional consequences.

  • Vitti, J. J., S. R. Grossman, and P. C. Sabeti. 2013. Detecting natural selection in genomic data. Annual Review of Genetics 47:97–120.

    DOI: 10.1146/annurev-genet-111212-133526

    A review focusing on methods of detecting different forms of natural selection, with examples from humans.

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