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. 2001 Aug;158(4):1811–1823. doi: 10.1093/genetics/158.4.1811

Interpretation of variation across marker loci as evidence of selection.

R Vitalis 1, K Dawson 1, P Boursot 1
PMCID: PMC1461744  PMID: 11514464

Abstract

Population structure and history have similar effects on the genetic diversity at all neutral loci. However, some marker loci may also have been strongly influenced by natural selection. Selection shapes genetic diversity in a locus-specific manner. If we could identify those loci that have responded to selection during the divergence of populations, then we may obtain better estimates of the parameters of population history by excluding these loci. Previous attempts were made to identify outlier loci from the distribution of sample statistics under neutral models of population structure and history. Unfortunately these methods depend on assumptions about population structure and history that usually cannot be verified. In this article, we define new population-specific parameters of population divergence and construct sample statistics that are estimators of these parameters. We then use the joint distribution of these estimators to identify outlier loci that may be subject to selection. We found that outlier loci are easier to recognize when this joint distribution is conditioned on the total number of allelic states represented in the pooled sample at each locus. This is so because the conditional distribution is less sensitive to the values of nuisance parameters.

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Selected References

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  1. Bowcock A. M., Kidd J. R., Mountain J. L., Hebert J. M., Carotenuto L., Kidd K. K., Cavalli-Sforza L. L. Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci U S A. 1991 Feb 1;88(3):839–843. doi: 10.1073/pnas.88.3.839. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Charlesworth B., Morgan M. T., Charlesworth D. The effect of deleterious mutations on neutral molecular variation. Genetics. 1993 Aug;134(4):1289–1303. doi: 10.1093/genetics/134.4.1289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Charlesworth B., Nordborg M., Charlesworth D. The effects of local selection, balanced polymorphism and background selection on equilibrium patterns of genetic diversity in subdivided populations. Genet Res. 1997 Oct;70(2):155–174. doi: 10.1017/s0016672397002954. [DOI] [PubMed] [Google Scholar]
  4. Choudhary M., Coulthart M. B., Singh R. S. A comprehensive study of genic variation in natural populations of Drosophila melanogaster. VI. Patterns and processes of genic divergence between D. melanogaster and its sibling species, Drosophila simulans. Genetics. 1992 Apr;130(4):843–853. doi: 10.1093/genetics/130.4.843. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Cockerham C. C., Weir B. S. Correlations, descent measures: drift with migration and mutation. Proc Natl Acad Sci U S A. 1987 Dec;84(23):8512–8514. doi: 10.1073/pnas.84.23.8512. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Flint J., Bond J., Rees D. C., Boyce A. J., Roberts-Thomson J. M., Excoffier L., Clegg J. B., Beaumont M. A., Nichols R. A., Harding R. M. Minisatellite mutational processes reduce F(st) estimates. Hum Genet. 1999 Dec;105(6):567–576. doi: 10.1007/s004399900185. [DOI] [PubMed] [Google Scholar]
  7. Hudson R. R., Kaplan N. L. The coalescent process in models with selection and recombination. Genetics. 1988 Nov;120(3):831–840. doi: 10.1093/genetics/120.3.831. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Kaplan N. L., Hudson R. R., Langley C. H. The "hitchhiking effect" revisited. Genetics. 1989 Dec;123(4):887–899. doi: 10.1093/genetics/123.4.887. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Lewontin R. C., 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. doi: 10.1093/genetics/74.1.175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Lewontin R. C., Krakauer J. Letters to the editors: Testing the heterogeneity of F values. Genetics. 1975 Jun;80(2):397–398. doi: 10.1093/genetics/80.2.397. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Malécot G. Heterozygosity and relationship in regularly subdivided populations. Theor Popul Biol. 1975 Oct;8(2):212–241. doi: 10.1016/0040-5809(75)90033-7. [DOI] [PubMed] [Google Scholar]
  12. Nei M., Chakravarti A. Drift variances of FST and GST statistics obtained from a finite number of isolated populations. Theor Popul Biol. 1977 Jun;11(3):307–325. doi: 10.1016/0040-5809(77)90014-4. [DOI] [PubMed] [Google Scholar]
  13. Nei M., Chakravarti A., Tateno Y. Mean and variance of FST in a finite number of incompletely isolated populations. Theor Popul Biol. 1977 Jun;11(3):291–306. doi: 10.1016/0040-5809(77)90013-2. [DOI] [PubMed] [Google Scholar]
  14. Nei M., Maruyama T. Letters to the editors: Lewontin-Krakauer test for neutral genes. Genetics. 1975 Jun;80(2):395–395. doi: 10.1093/genetics/80.2.395. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Nielsen R., Slatkin M. Likelihood analysis of ongoing gene flow and historical association. Evolution. 2000 Feb;54(1):44–50. doi: 10.1111/j.0014-3820.2000.tb00006.x. [DOI] [PubMed] [Google Scholar]
  16. Reynolds J., Weir B. S., Cockerham C. C. Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics. 1983 Nov;105(3):767–779. doi: 10.1093/genetics/105.3.767. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Robertson A. Letters to the editors: Remarks on the Lewontin-Krakauer test. Genetics. 1975 Jun;80(2):396–396. doi: 10.1093/genetics/80.2.396. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Ross K. G., Shoemaker D. D., Krieger M. J., DeHeer C. J., Keller L. Assessing genetic structure with multiple classes of molecular markers: a case study involving the introduced fire ant Solenopsis invicta. Mol Biol Evol. 1999 Apr;16(4):525–543. doi: 10.1093/oxfordjournals.molbev.a026134. [DOI] [PubMed] [Google Scholar]
  19. Rousset F. Equilibrium values of measures of population subdivision for stepwise mutation processes. Genetics. 1996 Apr;142(4):1357–1362. doi: 10.1093/genetics/142.4.1357. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Rousset F. Genetic differentiation and estimation of gene flow from F-statistics under isolation by distance. Genetics. 1997 Apr;145(4):1219–1228. doi: 10.1093/genetics/145.4.1219. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Singh R. S., Choudhary M., David J. R. Contrasting patterns of geographic variation in the cosmopolitan sibling species Drosophila melanogaster and Drosophila simulans. Biochem Genet. 1987 Feb;25(1-2):27–40. doi: 10.1007/BF00498949. [DOI] [PubMed] [Google Scholar]
  22. Slatkin M. Inbreeding coefficients and coalescence times. Genet Res. 1991 Oct;58(2):167–175. doi: 10.1017/s0016672300029827. [DOI] [PubMed] [Google Scholar]
  23. Smith J. M., Haigh J. The hitch-hiking effect of a favourable gene. Genet Res. 1974 Feb;23(1):23–35. [PubMed] [Google Scholar]
  24. Strobeck C. Average number of nucleotide differences in a sample from a single subpopulation: a test for population subdivision. Genetics. 1987 Sep;117(1):149–153. doi: 10.1093/genetics/117.1.149. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Strobeck C. Expected linkage disequilibrium for a neutral locus linked to a chromosomal arrangement. Genetics. 1983 Mar;103(3):545–555. doi: 10.1093/genetics/103.3.545. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Takahata N. The coalescent in two partially isolated diffusion populations. Genet Res. 1988 Dec;52(3):213–222. doi: 10.1017/s0016672300027683. [DOI] [PubMed] [Google Scholar]
  27. Tsakas S., Krimbas C. B. Testing the heterogeneity of F values: a suggestion and a correction. Genetics. 1976 Oct;84(2):399–401. doi: 10.1093/genetics/84.2.399. [DOI] [PMC free article] [PubMed] [Google Scholar]

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