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

A M Bowcock¹, J R Kidd, J L Mountain

¹Department of Genetics, Stanford University, CA 94305.

Proceedings of the National Academy of Sciences of the United States of America

|February 1, 1991

Summary

This summary is machine-generated.

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Human population genetics reveals that most DNA polymorphisms are neutral, but some show signs of natural selection. Evolutionary models incorporating early admixture better explain European genetic differentiation.

Area of Science:

Population Genetics
Human Evolution
Molecular Evolution

Background:

Accurate evolutionary analysis necessitates examining numerous genetic polymorphisms across multiple loci.
Previous studies utilized various genetic markers to understand population differentiation.

Purpose of the Study:

To reconstruct human differentiation using 100 DNA polymorphisms across five populations on four continents.
To test whether random genetic drift alone explains gene frequency variation or if natural selection plays a role.

Main Methods:

Analysis of 100 DNA polymorphisms in five human populations from different continents.
Statistical comparison of observed polymorphism variation with expectations under a neutral drift model.
Simulations to evaluate the influence of genetic drift on gene frequency variations.

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Main Results:

Human differentiation reconstruction aligns with previous genetic marker studies.
European population data deviates from simple models of independent evolution, suggesting early admixture.
Approximately two-thirds of DNA polymorphisms appear selectively neutral.
Deviations observed include an excess of polymorphisms with low and high variation, indicating selection's influence.

Conclusions:

Most DNA polymorphisms are selectively neutral, but a subset is influenced by natural selection (rarely heterotic, often disruptive).
Evolutionary models incorporating early admixture are necessary to accurately describe European population history.
Random genetic drift alone cannot fully account for observed gene frequency variations across populations and genes.