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. 1996 May;143(1):549–555. doi: 10.1093/genetics/143.1.549

Dynamics of Repeat Polymorphisms under a Forward-Backward Mutation Model: within- and between-Population Variability at Microsatellite Loci

M Kimmel 1, R Chakraborty 1, D N Stivers 1, R Deka 1
PMCID: PMC1207286  PMID: 8722803

Abstract

Suggested molecular mechanisms for the generation of new tandem repeats of simple sequences indicate that the microsatellite loci evolve via some form of forward-backward mutation. We provide a mathematical basis for suggesting a measure of genetic distance between populations based on microsatellite variation. Our results indicate that such a genetic distance measure can remain proportional to the divergence time of populations even when the forward-backward mutations produce variable and/or directionally biased alleles size changes. If the population size and the rate of mutation remain constant, then the measure will be proportional to the time of divergence of populations. This genetic distance is expressed in terms of a ratio of components of variance of allele sizes, based on expressions developed for studying population dynamics of quantitative traits. Application of this measure to data on 18 microsatellite loci in nine human populations leads to evolutionary trees consistent with the known ethnohistory of the populations.

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Selected References

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  1. Bowcock A. M., Ruiz-Linares A., Tomfohrde J., Minch E., Kidd J. R., Cavalli-Sforza L. L. High resolution of human evolutionary trees with polymorphic microsatellites. Nature. 1994 Mar 31;368(6470):455–457. doi: 10.1038/368455a0. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. Deka R., Jin L., Shriver M. D., Yu L. M., DeCroo S., Hundrieser J., Bunker C. H., Ferrell R. E., Chakraborty R. Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations. Am J Hum Genet. 1995 Feb;56(2):461–474. [PMC free article] [PubMed] [Google Scholar]
  4. Di Rienzo A., Peterson A. C., Garza J. C., Valdes A. M., Slatkin M., Freimer N. B. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3166–3170. doi: 10.1073/pnas.91.8.3166. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Goldstein D. B., Ruiz Linares A., Cavalli-Sforza L. L., Feldman M. W. An evaluation of genetic distances for use with microsatellite loci. Genetics. 1995 Jan;139(1):463–471. doi: 10.1093/genetics/139.1.463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Jeffreys A. J., Tamaki K., MacLeod A., Monckton D. G., Neil D. L., Armour J. A. Complex gene conversion events in germline mutation at human minisatellites. Nat Genet. 1994 Feb;6(2):136–145. doi: 10.1038/ng0294-136. [DOI] [PubMed] [Google Scholar]
  7. Kidd J. R., Black F. L., Weiss K. M., Balazs I., Kidd K. K. Studies of three Amerindian populations using nuclear DNA polymorphisms. Hum Biol. 1991 Dec;63(6):775–794. [PubMed] [Google Scholar]
  8. Rubinsztein D. C., Amos W., Leggo J., Goodburn S., Jain S., Li S. H., Margolis R. L., Ross C. A., Ferguson-Smith M. A. Microsatellite evolution--evidence for directionality and variation in rate between species. Nat Genet. 1995 Jul;10(3):337–343. doi: 10.1038/ng0795-337. [DOI] [PubMed] [Google Scholar]
  9. Shriver M. D., Jin L., Boerwinkle E., Deka R., Ferrell R. E., Chakraborty R. A novel measure of genetic distance for highly polymorphic tandem repeat loci. Mol Biol Evol. 1995 Sep;12(5):914–920. doi: 10.1093/oxfordjournals.molbev.a040268. [DOI] [PubMed] [Google Scholar]
  10. Shriver M. D., Jin L., Chakraborty R., Boerwinkle E. VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics. 1993 Jul;134(3):983–993. doi: 10.1093/genetics/134.3.983. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Tavaré S. Line-of-descent and genealogical processes, and their applications in population genetics models. Theor Popul Biol. 1984 Oct;26(2):119–164. doi: 10.1016/0040-5809(84)90027-3. [DOI] [PubMed] [Google Scholar]
  12. Valdes A. M., Slatkin M., Freimer N. B. Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics. 1993 Mar;133(3):737–749. doi: 10.1093/genetics/133.3.737. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Weber J. L., Wong C. Mutation of human short tandem repeats. Hum Mol Genet. 1993 Aug;2(8):1123–1128. doi: 10.1093/hmg/2.8.1123. [DOI] [PubMed] [Google Scholar]
  14. Wehrhahn C. F. The evolution of selectively similar electrophoretically detectable alleles in finite natural populations. Genetics. 1975 Jun;80(2):375–394. doi: 10.1093/genetics/80.2.375. [DOI] [PMC free article] [PubMed] [Google Scholar]

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