Abstract
The amount and pattern of DNA polymorphism can give useful information on the maintenance mechanism of genetic variation at the DNA level. In this note we have shown the amount and pattern of DNA polymorphism expected under the neutral theory. The amount of DNA polymorphism can be estimated from the average number of nucleotide differences per site, the proportion of segregating sites, and so on. We have shown how to estimate θ from these quantities, where θ = 4Nυ, N is the effective population size and υ isthe mutation rate per site per generation. We have also shown the expectations of the nucleotide variation within and between allelic classes.
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References
Fu, Y.-X. & W.-H. Li, 1993. Statistical tests of neutrality of muta tions. Genetics 133: 693–709.
Golding, G.B., 1983. Estimates of DNA and protein sequence diver gence: an examination of some assumptions. Mol. Biol. Evol. 1: 125–142.
Hudson, R.R., 1990. Gene genealogies and the coalescent process. Oxf. Surv. Evol. Biol. 7: 1–44.
Innan, H. & F. Tajima, 1997. The amounts of nucleotide variation within and between allelic classes, and the reconstruction of the common ancestral sequence in a population. Genetics 147: 1431–1444.
Jukes, T.H. & C.R. Cantor, 1969. Evolution of protein molecules, pp. 21–132 in Mammalian Protein Metabolism, edited by H.N. Munro. Academic Press, New York.
Kimura, M., 1968. Evolutionary rate at the molecular level. Nature 217: 624–626.
Kimura, M., 1969. The number of heterozygous nucleotide sites maintained in a finite population due to steady flux of mutations. Genetics 61: 893–903.
Kimura, M., 1983. The Neutral Theory of Molecular Evolution. Cambridge Univ. Press, Cambridge.
Misawa, K. & F. Tajima, 1997. Estimation of the amount of DNA polymorphism when the neutral mutation rate varies among sites. Genetics 147: 1959–1964.
Nei, M. & W.-H. Li, 1979. Mathematical model for studying genetic variation in terms of restriction endonucleases. Proc. Natl. Acad. Sci. USA 76: 5269–5273.
Nei, M. & F. Tajima, 1981. DNA polymorphism detectable by restriction endonucleases. Genetics 97: 145–163.
Tajima, F., 1983. Evolutionary relationship of DNA sequences in finite populations. Genetics 105: 437–460.
Tajima, F., 1989. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123: 585–595.
Tajima, F., 1993a. Measurement of DNA polymorphism, pp. 37–59 in Mechanisms of Molecular Evolution, edited by N. Takahata & A. G. Clark. Japan Sci. Soc. Press, Tokyo/Sinauer Associates, Sunderland, MA.
Tajima, F., 1993b. Statistical analysis of DNA polymorphism. Jpn. J. Genet. 68: 567–595.
Tajima, F., 1996. The amount of DNA polymorphism maintained in a finite population when the neutral mutation rate varies among sites. Genetics 143: 1457–1465.
Wakeley, J., 1993. Substitution rate variation among sites in hypervariable region 1 of human mitochondrial DNA. J. Mol. Evol. 37: 613–623.
Watterson, G.A., 1975. On the number of segregating sites in genetic models without recombination. Theor. Popul. Biol. 7: 256–276.
Yang, Z., 1996. Statistical properties of a DNA sample under the finite-sites model. Genetics 144: 1941–1950.
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Tajima, F., Misawa, K., Innan, H. (1998). The amount and pattern of DNA polymorphism under the neutral mutation hypothesis. In: Woodruff, R.C., Thompson, J.N. (eds) Mutation and Evolution. Contemporary Issues in Genetics and Evolution, vol 7. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-5210-5_10
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DOI: https://doi.org/10.1007/978-94-011-5210-5_10
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