Logo of pnasPNASInfo for AuthorsSubscriptionsAboutThis Article
Proc Natl Acad Sci U S A. Feb 1, 1991; 88(3): 839–843.
PMCID: PMC50909

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

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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.1M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Pamilo P, Nei M. Relationships between gene trees and species trees. Mol Biol Evol. 1988 Sep;5(5):568–583. [PubMed]
  • Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. [PubMed]
  • Cann RL, Stoneking M, Wilson AC. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. [PubMed]
  • Wainscoat JS, Hill AV, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, et al. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. [PubMed]
  • Nei M, Livshits G. Genetic relationships of Europeans, Asians and Africans and the origin of modern Homo sapiens. Hum Hered. 1989;39(5):276–281. [PubMed]
  • Nei M. The theory of genetic distance and evolution of human races. Jinrui Idengaku Zasshi. 1978 Dec;23(4):341–369. [PubMed]
  • Cavalli-Sforza LL, Piazza A, Menozzi P, Mountain J. Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data. Proc Natl Acad Sci U S A. 1988 Aug;85(16):6002–6006. [PMC free article] [PubMed]
  • Kan YW, Dozy AM. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631–5635. [PMC free article] [PubMed]
  • Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed]
  • Wyman AR, White R. A highly polymorphic locus in human DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754–6758. [PMC free article] [PubMed]
  • Mullis KB, Faloona FA. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol. 1987;155:335–350. [PubMed]
  • Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA. Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature. 1986 Nov 13;324(6093):163–166. [PubMed]
  • Cavalli-Sforza LL, Kidd JR, Kidd KK, Bucci C, Bowcock AM, Hewlett BS, Freidlaender JS. DNA markers and genetic variation in the human species. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):411–417. [PubMed]
  • Bowcock AM, Bucci C, Hebert JM, Kidd JR, Kidd KK, Friedlaender JS, Cavalli-Sforza LL. Study of 47 DNA markers in five populations from four continents. Gene Geogr. 1987 Apr;1(1):47–64. [PubMed]
  • Saitou N, Nei M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987 Jul;4(4):406–425. [PubMed]
  • Reynolds J, Weir BS, Cockerham CC. Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics. 1983 Nov;105(3):767–779. [PMC free article] [PubMed]
  • Cavalli-Sforza LL, Piazza A. Analysis of evolution: evolutionary rates, independence and treeness. Theor Popul Biol. 1975 Oct;8(2):127–165. [PubMed]
  • Felsenstein J. Maximum-likelihood estimation of evolutionary trees from continuous characters. Am J Hum Genet. 1973 Sep;25(5):471–492. [PMC free article] [PubMed]
  • Cavalli-Sforza LL, Edwards AW. Phylogenetic analysis. Models and estimation procedures. Am J Hum Genet. 1967 May;19(3 Pt 1):233–257. [PMC free article] [PubMed]
  • Kidd KK, Sgaramella-Zonta LA. Phylogenetic analysis: concepts and methods. Am J Hum Genet. 1971 May;23(3):235–252. [PMC free article] [PubMed]
  • Cavalli-Sforza LL. Population structure and human evolution. Proc R Soc Lond B Biol Sci. 1966 Mar 22;164(995):362–379. [PubMed]
  • Lewontin RC, Krakauer J. Distribution of gene frequency as a test of the theory of the selective neutrality of polymorphisms. Genetics. 1973 May;74(1):175–195. [PMC free article] [PubMed]
  • Robertson A. Gene frequency distributions as a test of selective neutrality. Genetics. 1975 Dec;81(4):775–785. [PMC free article] [PubMed]
  • Wright S. Evolution in Mendelian Populations. Genetics. 1931 Mar;16(2):97–159. [PMC free article] [PubMed]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

Formats:

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...

Links

  • Compound
    Compound
    PubChem Compound links
  • PubMed
    PubMed
    PubMed citations for these articles
  • Substance
    Substance
    PubChem Substance links

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...