Skip to main content
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
. 1981 May;78(5):3108–3112. doi: 10.1073/pnas.78.5.3108

Is there a difference among human populations in the rate with which mutation produces electrophoretic variants?

J V Neel, E Rothman
PMCID: PMC319509  PMID: 6942419

Abstract

Data are summarized that suggest that tropical-zone/tribal/nonindustrialized populations have higher frequencies of certain types of protein variants than temperate-zone/civilized/industrial populations, and it is demonstrated that these differences are not an artifact produced by the contagious type of sampling used with respect to tribal populations. Evidence is reviewed that suggests that a possible explanation of this difference is higher mutation rates in the tribal populations studied.

Full text

PDF
3108

Selected References

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

  1. Bhatia K. K., Blake N. M., Kirk R. L. The frequency of private electrophoretic variants in Australian aborigines and indirect estimates of mutation rate. Am J Hum Genet. 1979 Nov;31(6):731–740. [PMC free article] [PubMed] [Google Scholar]
  2. Bhatia K. K., Blake N. M., Serjeantson S. W., Kirk R. L. Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea. Am J Hum Genet. 1981 Jan;33(1):112–122. [PMC free article] [PubMed] [Google Scholar]
  3. Bloom A. D., Neel J. V., Choi K. W., Iida S., Chagnon N. Chromosome aberrations among the Yanomamma Indians. Proc Natl Acad Sci U S A. 1970 Jul;66(3):920–927. doi: 10.1073/pnas.66.3.920. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bloom A. D., Neel J. V., Tsuchimoto T., Meilinger K. Chromosomal breakage in leukocytes of South American Indians. Cytogenet Cell Genet. 1973;12(3):175–186. doi: 10.1159/000130453. [DOI] [PubMed] [Google Scholar]
  5. Chakraborty R., Roychoudhury A. K. Mutation rates from rare variants of proteins in Indian tribes. Hum Genet. 1978 Aug 31;43(2):179–183. doi: 10.1007/BF00293594. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Harris H., Hopkinson D. A., Robson E. B. The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann Hum Genet. 1974 Jan;37(3):237–253. doi: 10.1111/j.1469-1809.1974.tb01832.x. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. Neel J. V., Mohrenweiser H. W., Meisler M. H. Rate of spontaneous mutation at human loci encoding protein structure. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6037–6041. doi: 10.1073/pnas.77.10.6037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Neel J. V. Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations. Am J Hum Genet. 1978 Sep;30(5):465–490. [PMC free article] [PubMed] [Google Scholar]
  12. 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]
  13. Neel J. V., Satoh C., Hamilton H. B., Otake M., Goriki K., Kageoka T., Fujita M., Neriishi S., Asakawa J. Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report. Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221–4225. doi: 10.1073/pnas.77.7.4221. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. 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]
  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. Saha N., Kirk R. L., Shanbhag S., Joshi S. H., Bhatia H. M. Genetic studies among the Kadar of Kerala. Hum Hered. 1974;24(2):198–218. doi: 10.1159/000152653. [DOI] [PubMed] [Google Scholar]
  18. Sugimura T. Let's be scientific about the problem of mutagens in cooked food. Mutat Res. 1978;55(3-4):149–152. doi: 10.1016/0165-1110(78)90001-5. [DOI] [PubMed] [Google Scholar]
  19. Tanis R., Ferrell R. E., Nell J. V., Morrow M. Albumin Yanomama-2, a 'private' polymorphism of serum albumin. Ann Hum Genet. 1974 Oct;38(2):179–190. doi: 10.1111/j.1469-1809.1974.tb01949.x. [DOI] [PubMed] [Google Scholar]
  20. Tchen P., Séger J., Bois E., Grenand F., Fribourg-Blanc A., Feingold N. A genetic study of two French Guiana Amerindian populations. II. Rare electrophoretic variants. Hum Genet. 1978 Dec 29;45(3):317–326. doi: 10.1007/BF00278729. [DOI] [PubMed] [Google Scholar]
  21. 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]

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