Abstract
A method for estimating the mutation rate for protein loci from the number of rare alleles in the population is presented. It seems to have a number of advantages compared with Kimura and Ohta's method. Applying this method to Neel's data from American Indians in South America and to Nozawa's data from Japanese macaques, the mutation rate for electrophoretically detectable alleles is estimated to be (2 approximately 3) x 10(-6) per locus per generation. This estimate may not include many severely or substantially deleterious mutations.
Full text
PDFSelected References
These references are in PubMed. This may not be the complete list of references from this article.
- Ewens W. J. A note on the sampling theory for infinite alleles and infinite sites models. Theor Popul Biol. 1974 Oct;6(2):143–148. doi: 10.1016/0040-5809(74)90020-3. [DOI] [PubMed] [Google Scholar]
- 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]
- KIMURA M., CROW J. F. THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION. Genetics. 1964 Apr;49:725–738. doi: 10.1093/genetics/49.4.725. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kimura M., Maruyama T. Pattern of neutral polymorphism in a geographically structured population. Genet Res. 1971 Oct;18(2):125–131. doi: 10.1017/s0016672300012520. [DOI] [PubMed] [Google Scholar]
- Kimura M., Ohta T. Distribution of allelic frequencies in a finite population under stepwise production of neutral alleles. Proc Natl Acad Sci U S A. 1975 Jul;72(7):2761–2764. doi: 10.1073/pnas.72.7.2761. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Kimura M. Theoretical foundation of population genetics at the molecular level. Theor Popul Biol. 1971 Jun;2(2):174–208. doi: 10.1016/0040-5809(71)90014-1. [DOI] [PubMed] [Google Scholar]
- Li W. H. A Mixed Model of Mutation for Electrophoretic Identity of Proteins within and between Populations. Genetics. 1976 Jun;83(2):423–432. doi: 10.1093/genetics/83.2.423. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Nei M. The frequency distribution of lethal chromosomes in finite populations. Proc Natl Acad Sci U S A. 1968 Jun;60(2):517–524. doi: 10.1073/pnas.60.2.517. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ohta T., Kimura M. A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res. 1973 Oct;22(2):201–204. doi: 10.1017/s0016672300012994. [DOI] [PubMed] [Google Scholar]
- Spielman R. S., Migliazza E. C., Neel J. V. Regional linguistic and genetic differences among Yanomama indians. Science. 1974 May 10;184(4137):637–644. doi: 10.1126/science.184.4137.637. [DOI] [PubMed] [Google Scholar]
- 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]
- Ward R. H., Gershowitz H., Layrisse M., Neel J. V. The genetic structure of a tribal population, the Yanomama Indians XI. Gene frequencies for 10 blood groups and the ABH-Le secretor traits in the Yanomama and their neighbors; the uniqueness of the tribe. Am J Hum Genet. 1975 Jan;27(1):1–30. [PMC free article] [PubMed] [Google Scholar]
- Weitkamp L. R., McDermid E. M., Neel J. V., Fine J. M., Petrini C., Bonazzi L., Ortali V., Porta F., Tanis R., Harris D. J. Additional data on the population distribution of human serum albumin genes; three new variants. Ann Hum Genet. 1973 Oct;37(2):219–226. doi: 10.1111/j.1469-1809.1973.tb01829.x. [DOI] [PubMed] [Google Scholar]
- Wright S. The Distribution of Gene Frequencies Under Irreversible Mutation. Proc Natl Acad Sci U S A. 1938 Jul;24(7):253–259. doi: 10.1073/pnas.24.7.253. [DOI] [PMC free article] [PubMed] [Google Scholar]