pmc logo imageJournal ListSearchpmc logo image
Logo of ajhgJournal URL: redirect3.cgi?&&auth=0viV8rkx9A6AjvrThZbL1EIKN3_U05E_P06u7uknY&reftype=publisher&artid=1684814&article-id=1684814&iid=137947&issue-id=137947&jid=203&journal-id=203&FROM=Article|Banner&TO=Publisher|Other|N%2FA&rendering-type=normal&&http://www.journals.uchicago.edu/AJHG/index.html
Am J Hum Genet. 1986 May; 38(5): 649–666.
PMCID: PMC1684814
A revised indirect estimate of mutation rates in Amerindians.
J V Neel, H W Mohrenweiser, E D Rothman, and J M Naidu
Abstract
We have previously raised the possibility that the mutation rate resulting in rare electrophoretic variants is higher in tribal/tropical-dwelling/nonindustrialized societies than in civilized/temperate-dwelling/industrialized societies. Here, we report the results of examining 11 additional proteins for the occurrence of rare electrophoretic variants in 10 Amerindian tribes, for a total of 8,968 determinations and a total of 17,648 locus tests. When these data are combined with the results of all our previous similar studies of Amerindians, a total of 272,298 polypeptides, the products of 43 different loci, have been examined for the occurrence of rare electrophoretic variants. On the assumption that these variants are maintained by mutation pressure and are essentially neutral in their phenotypic effects, we have calculated by three different approaches that it requires an average mutation rate of 1.3 X 10(-5)/locus per generation to maintain the observed variant frequency. Concurrently, we are reporting elsewhere that a direct estimate of the mutation rate resulting in electromorphs in various studies of civilized industrialized populations is 0.3 X 10(-5)/locus per generation. Although this difference appears to have statistical significance, the nonquantifiable uncertainties to both approaches are such that our enthusiasm for a true difference in mutation rates between the two types of populations has diminished. However, even the lower of these estimates, when corrected for all the types of genetic variation that electrophoresis does not detect, implies total locus and gametic mutation rates well above those which in the past have dominated genetic thinking.
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 (1.7M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Neel, JV. "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. [PubMed]
  • Neel, JV; Rothman, ED. Indirect estimates of mutation rates in tribal Amerindians. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5585–5588. [PubMed]
  • Neel, JV; Rothman, E. Is there a difference among human populations in the rate with which mutation produces electrophoretic variants? Proc Natl Acad Sci U S A. 1981 May;78(5):3108–3112. [PubMed]
  • Neel, JV; 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. [PubMed]
  • Neel, JV; Gershowitz, H; Mohrenweiser, HW; Amos, B; Kostyu, DD; Salzano, FM; Mestriner, MA; Lawrence, D; Simões, AL; Smouse, PE; Oliver, WJ; Spielman, RS; Neel, JV., Jr Genetic studies on the Ticuna, an enigmatic tribe of Central Amazonas. Ann Hum Genet. 1980 Jul;44(Pt 1):37–54. [PubMed]
  • Vanderheiden, BS. Genetic studies of human erythrocyte inosine triphosphatase. Biochem Genet. 1969 Jun;3(3):289–297. [PubMed]
  • Harada, S; Agarwal, DP; Goedde, HW. Isozyme variations in acetaldehyde dehydrogenase (e.c.1.2.1.3) in human tissues. Hum Genet. 1978 Oct 31;44(2):181–185. [PubMed]
  • Chen, SH; Giblett, ER. Genetic variation of soluble glutamic-oxaloacetic transaminase in man. Am J Hum Genet. 1971 Jul;23(4):419–424. [PubMed]
  • Wurzinger, KH; Mohrenweiser, HW. Studies on the genetic and non-genetic (physiological) variation of human erythrocyte glutamic oxaloacetic transaminase. Ann Hum Genet. 1982 Jul;46(Pt 3):191–201. [PubMed]
  • Neel, JV. Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations. Am J Hum Genet. 1978 Sep;30(5):465–490. [PubMed]
  • Mohrenweiser, H; Neel, JV; Mestriner, MA; Salzano, FM; Migliazza, E; Simões, AL; Yoshihara, CM. Electrophoretic variants in three Amerindian tribes: the Baniwa, Kanamari, and Central Pano of western Brazil. Am J Phys Anthropol. 1979 Feb;50(2):237–246. [PubMed]
  • Mestriner, MA; Simŏes, AL; Salzano, FM. New studies on the esterase D polymorphism in South American Indians. Am J Phys Anthropol. 1980 Jan;52(1):95–101. [PubMed]
  • Barrantes, R; Smouse, PE; Neel, JV; Mohrenweiser, HW; Gershowitz, H. Migration and genetic infrastructure of the Central American Guaymi and their affinities with other tribal groups. Am J Phys Anthropol. 1982 Jun;58(2):201–214. [PubMed]
  • Salzano, FM; Mohrenweiser, H; Gershowitz, H; Neel, JV; Mestriner, MA; Simões, AL; Constans, J; De Melo e Freitas, MJ. New studies on the Macushi Indians of northern Brazil. Ann Hum Biol. 1984 11(4):337–350.Jul–Aug; [PubMed]
  • Mohrenweiser, HW; Decker, RS. Identification of several electrophoretic variants of human ceruloplasmin including CpMichigan, a new polymorphism. Hum Hered. 1982;32(6):369–373. [PubMed]
  • Nei, M. Estimation of mutation rate from rare protein variants. Am J Hum Genet. 1977 May;29(3):225–232. [PubMed]
  • Rothman, Edward D; Adams, Julian. 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. [PubMed]
  • 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. [PubMed]
  • Neel, JV. A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms. Am J Hum Genet. 1984 Sep;36(5):1135–1148. [PubMed]
  • Pollak, E. On three methods for estimating mutation rates indirectly. Am J Hum Genet. 1986 Feb;38(2):209–227. [PubMed]
  • Bhatia, KK; Blake, NM; Kirk, RL. 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. [PubMed]
  • Bhatia, KK; Blake, NM; Serjeantson, SW; Kirk, RL. 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. [PubMed]
  • Chakraborty, R; Roychoudhury, AK. Mutation rates from rare variants of proteins in Indian tribes. Hum Genet. 1978 Aug 31;43(2):179–183. [PubMed]
  • Thompson, EA; Neel, JV. Probability of founder effect in a tribal population. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1442–1445. [PubMed]
  • Neel, JV; Thompson, EA. Founder effect and number of private polymorphisms observed in Amerindian tribes. Proc Natl Acad Sci U S A. 1978 Apr;75(4):1904–1908. [PubMed]
  • Harris, H; Hopkinson, DA; Robson, EB. The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann Hum Genet. 1974 Jan;37(3):237–253. [PubMed]
  • Neel, JV; Ueda, N; Satoh, C; Ferrell, RE; Tanis, RJ; Hamilton, HB. The frequency in Japanese of genetic variants of 22 proteins. V. Summary and comparison with data on Caucasians from the British Isles. Ann Hum Genet. 1978 May;41(4):429–441. [PubMed]
  • Neel, JV; Satoh, C; Hamilton, HB; 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. [PubMed]
  • Naidu, JM; Mohrenweiser, HW; Nee, JV. A sero-biochemical genetic study of Jalari and Brahmin caste populations of Andhra Pradesh, India. Hum Hered. 1985;35(3):148–156. [PubMed]
  • Mohrenweiser, HW; Neel, JV. A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians. Am J Hum Genet. 1984 May;36(3):655–662. [PubMed]
  • Mohrenweiser, HW. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046–5050. [PubMed]
  • Satoh, C; Neel, JV; Yamashita, A; Goriki, K; Fujita, M; Hamilton, HB. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet. 1983 Jul;35(4):656–674. [PubMed]