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Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

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  • 1. Department of Genetics, Stanford University, CA 94305.
      Authors
    • Bowcock AM 1
    (1 author)

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Proceedings of the National Academy of Sciences of the United States of America, 01 Feb 1991, 88(3):839-843
https://doi.org/10.1073/pnas.88.3.839 PMID: 1992475 PMCID: PMC50909

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Abstract 

Accuracy of evolutionary analysis of populations within a species requires the testing of a large number of genetic polymorphisms belonging to many loci. We report here a reconstruction of human differentiation based on 100 DNA polymorphisms tested in five populations from four continents. The results agree with earlier conclusions based on other classes of genetic markers but reveal that Europeans do not fit a simple model of independently evolving populations with equal evolutionary rates. Evolutionary models involving early admixture are compatible with the data. Taking one such model into account, we examined through simulation whether random genetic drift alone might explain the variation among gene frequencies across populations and genes. A measure of variation among populations was calculated for each polymorphism, and its distribution for the 100 polymorphisms was compared with that expected for a drift-only hypothesis. At least two-thirds of the polymorphisms appear to be selectively neutral, but there are significant deviations at the two ends of the observed distribution of the measure of variation: a slight excess of polymorphisms with low variation and a greater excess with high variation. This indicates that a few DNA polymorphisms are affected by natural selection, rarely heterotic, and more often disruptive, while most are selectively neutral.

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Proc Natl Acad Sci U S A. 1991 Feb 1; 88(3): 839–843.
PMCID: PMC50909
PMID: 1992475

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

A M Bowcock, J R Kidd, J L Mountain, J M Hebert, L Carotenuto, K K Kidd, and L L Cavalli-Sforza
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Abstract

Accuracy of evolutionary analysis of populations within a species requires the testing of a large number of genetic polymorphisms belonging to many loci. We report here a reconstruction of human differentiation based on 100 DNA polymorphisms tested in five populations from four continents. The results agree with earlier conclusions based on other classes of genetic markers but reveal that Europeans do not fit a simple model of independently evolving populations with equal evolutionary rates. Evolutionary models involving early admixture are compatible with the data. Taking one such model into account, we examined through simulation whether random genetic drift alone might explain the variation among gene frequencies across populations and genes. A measure of variation among populations was calculated for each polymorphism, and its distribution for the 100 polymorphisms was compared with that expected for a drift-only hypothesis. At least two-thirds of the polymorphisms appear to be selectively neutral, but there are significant deviations at the two ends of the observed distribution of the measure of variation: a slight excess of polymorphisms with low variation and a greater excess with high variation. This indicates that a few DNA polymorphisms are affected by natural selection, rarely heterotic, and more often disruptive, while most are selectively neutral.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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