Skip to main content
NCBI home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1989 Dec;86(23):9407–9411. doi: 10.1073/pnas.86.23.9407

Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data.

R Chakraborty 1, J V Neel 1
PMCID: PMC298505  PMID: 2594777

Abstract

A method is presented for utilizing population data on electrophoretic variants of proteins to estimate simultaneously the effective sizes (Ne values) of the populations in question and the rate of mutation resulting in electromorphs at the loci whose products were surveyed. The method is applied to data from 12 relatively unacculturated Amerindian tribes for whom census data and independent estimates of the number of different electrophoretic variants at 27 loci are available. Because of tribal demographic structure, Ne should be less than the current number of reproductive-aged adults. In fact, it is substantially greater for 7 tribes, most likely due to intertribal migration and a recent decrease in tribal size. Estimates of locus mutation rates for the 27 loci vary by more than a factor of 20, with an average of 1.1 x 10(-5) per locus per generation. This latter estimate is in satisfactory agreement with the results of other indirect approaches to the estimation of mutation rates in these tribes but about two times higher than the results of direct estimates based on these same loci in studies on civilized populations. This discrepancy could be due to the above-hypothesized migration and to decreases in tribal size.

Full text

PDF
9407

Selected References

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

  1. Chakraborty R., Fuerst P. A., Nei M. Statistical Studies on Protein Polymorphism in Natural Populations II. Gene Differentiation between Populations. Genetics. 1978 Feb;88(2):367–390. doi: 10.1093/genetics/88.2.367. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chakraborty R., Smouse P. E., Neel J. V. Population amalgamation and genetic variation: observations on artificially agglomerated tribal populations of Central and South America. Am J Hum Genet. 1988 Nov;43(5):709–725. [PMC free article] [PubMed] [Google Scholar]
  3. Ewens W. J. The sampling theory of selectively neutral alleles. Theor Popul Biol. 1972 Mar;3(1):87–112. doi: 10.1016/0040-5809(72)90035-4. [DOI] [PubMed] [Google Scholar]
  4. Harris H., Hopkinson D. A., Edwards Y. H. Polymorphism and the subunit structure of enzymes: a contribution to the neutralist-selectionist controversy. Proc Natl Acad Sci U S A. 1977 Feb;74(2):698–701. doi: 10.1073/pnas.74.2.698. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kimura M., Ota T. The average number of generations until extinction of an individual mutant gene in a finite population. Genetics. 1969 Nov;63(3):701–709. doi: 10.1093/genetics/63.3.701. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Neel J. V. "Private" genetic variants and the frequency of mutation among South American Indians. Proc Natl Acad Sci U S A. 1973 Dec;70(12):3311–3315. doi: 10.1073/pnas.70.12.3311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Neel J. V., Mohrenweiser H. W., Gershowitz H. A pilot study of the use of placental cord blood samples in monitoring for mutational events. Mutat Res. 1988 Mar;204(3):365–377. doi: 10.1016/0165-1218(88)90035-3. [DOI] [PubMed] [Google Scholar]
  8. Neel J. V., Rothman E. D. Indirect estimates of mutation rates in tribal Amerindians. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5585–5588. doi: 10.1073/pnas.75.11.5585. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Neel J. V., Satoh C., Goriki K., Asakawa J., Fujita M., Takahashi N., Kageoka T., Hazama R. Search for mutations altering protein charge and/or function in children of atomic bomb survivors: final report. Am J Hum Genet. 1988 May;42(5):663–676. [PMC free article] [PubMed] [Google Scholar]
  10. Neel J. V., Satoh C., Goriki K., Fujita M., Takahashi N., Asakawa J., Hazama R. The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides. Proc Natl Acad Sci U S A. 1986 Jan;83(2):389–393. doi: 10.1073/pnas.83.2.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Neel J. V., Satoh C., Smouse P., Asakawa J., Takahashi N., Goriki K., Fujita M., Kageoka T., Hazama R. Protein variants in Hiroshima and Nagasaki: tales of two cities. Am J Hum Genet. 1988 Dec;43(6):870–893. [PMC free article] [PubMed] [Google Scholar]
  12. Neel J. V. The population structure of an Amerindian tribe, the Yanomama. Annu Rev Genet. 1978;12:365–413. doi: 10.1146/annurev.ge.12.120178.002053. [DOI] [PubMed] [Google Scholar]
  13. Neel J. V., Thompson E. A. Founder effect and number of private polymorphisms observed in Amerindian tribes. Proc Natl Acad Sci U S A. 1978 Apr;75(4):1904–1908. doi: 10.1073/pnas.75.4.1904. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Neel J. V., Ward R. H. Village and tribal genetic distances among American Indians, and the possible implications for human evolution. Proc Natl Acad Sci U S A. 1970 Feb;65(2):323–330. doi: 10.1073/pnas.65.2.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Nei M. Estimation of mutation rate from rare protein variants. Am J Hum Genet. 1977 May;29(3):225–232. [PMC free article] [PubMed] [Google Scholar]
  16. Rothman E. D., Adams J. Estimation of expected number of rare alleles of a locus and calculation of mutation rate. Proc Natl Acad Sci U S A. 1978 Oct;75(10):5094–5098. doi: 10.1073/pnas.75.10.5094. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Sokal R. R., Smouse P. E., Neel J. V. The genetic structure of a tribal population, the Yanomama Indians. XV. Patterns inferred by autocorrelation analysis. Genetics. 1986 Sep;114(1):259–287. doi: 10.1093/genetics/114.1.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Spielman R. S., Neel J. V., Li F. H. Inbreeding estimation from population data: models, procedures and implications. Genetics. 1977 Feb;85(2):355–371. doi: 10.1093/genetics/85.2.355. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Thompson E. A., Neel J. V. Probability of founder effect in a tribal population. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1442–1445. doi: 10.1073/pnas.75.3.1442. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Ward R. H., Neel J. V. The genetic structure of a tribal population, the Yanomama Indians. XIV. Clines and their interpretation. Genetics. 1976 Jan;82(1):103–121. doi: 10.1093/genetics/82.1.103. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Wright S. Evolution in Mendelian Populations. Genetics. 1931 Mar;16(2):97–159. doi: 10.1093/genetics/16.2.97. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES