We derive a Poisson random field model for population site polymorphisms differences within and between two species that share a relatively recent common ancestor. The model can be either equilibrium or time inhomogeneous. We first consider a random field of Markov chains that describes the fate of a set of individual mutations. This field is approximated by a Poisson random field from which we can make inferences about the amounts of mutation and selection that have occurred in the history of observed aligned DNA sequences.
References
[1] Abel, H. J. (2009). The role of positive selection in molecular evolution: Alternative models for within-locus selective effects. Ph.D. thesis, Washington Univ. in St. Louis.
[2] Akashi, H. (1999). Inferring the fitness effects of DNA mutations from polymorphism and divergence data: Statistical power to detect directional selection under stationarity and free recombination. Genetics 151 221–238.
[3] Baines, J. F., Sawyer, S. A., Hartl, D. L. and Parsch, J. (2008). Effects of X-linkage and sex-biased gene expression on the rate of adaptive protein evolution in Drosophila. Mol. Biol. Evol. 25 1639–1650.
[4] Bierne, N. and Eyre-Walker, A. (2004). The genomic rate of adaptive amino acid substitution in Drosophila. Mol. Biol. Evol. 21 1350–1360.
[5] Boyko, A. R., Williamson, S. H., Indap, A. R., Degenhardt, J. D., Hernandez, R. D. et al. (2008). Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genetics 4 e1000083.
[6] Bustamante, C. D., Wakeley, J., Sawyer, S. A. and Hartl, D. L. (2001). Directional selection and the site-frequency spectrum. Genetics 159 1779–1788.
[7] Bustamante, C. D., Nielsen, R., Sawyer, S. A., Purugganan, M. D., Olsen, K. M. and Hartl, D. L. (2002). The cost of inbreeding: Fixation of deleterious genes in Arabidopsis. Nature 416 531–534.
[8] Bustamante, C. D., Nielsen, R. and Hartl, D. L. (2003). Maximum likelihood and Bayesian methods for estimating the distribution of selective effects among classes of mutations using DNA polymorphism data. Theory Popul. Biol. 63 91–103.
[9] Caicedo, A. L., Williamson, S. H., Hernandez, R. D., Boyko, A., Fledel-Alon, A. et al. (2007). Genome-wide patterns of nucleotide polymorphism in domesticated rice. PLoS Genetics 3 e163.
[10] Dunford, C. and Schwartz, J. (1958). Linear Operators. Part I: General Theory. Interscience, New York.
[11] Dynkin, E. B. (2006). Theory of Markov Processes. Dover, Mineola, NY.
[12] Durrett, R. (2002). Probability Models for DNA Sequence Evolution. Springer, New York.
[13] Ethier, S. N. and Kurtz, T. G. (1986). Markov Processes: Characterization and Convergence. Wiley, New York.
Mathematical Reviews (MathSciNet):
MR838085
[14] Ewens, W. J. (2004). Mathematical Population Genetics, 2nd ed. Springer, New York.
[15] Eyre-Walker, A. and Keightley, P. D. (2007). The distribution of fitness effects of new mutations. Nat. Rev. Genet. 8 610–618.
[16] Feller, W. (1952). The parabolic differential equations and the associated semi-groups of transformations. Ann. of Math. (2) 55 468–519.
Mathematical Reviews (MathSciNet):
MR47886
[17] Feller, W. (1955). On second order differential operators. Ann. of Math. (2) 61 90–105.
Mathematical Reviews (MathSciNet):
MR68082
[18] Hartl, D. L. (2000). A Primer of Population Genetics, 3rd ed. Sinauer, Sunderland, MA.
[19] Hartl, D. L. and Clark, A. (2007). Principles of Population Genetics, 4th ed. Sinauer, Sunderland, MA.
[20] Hartl, D. L., Moriyama, E. N. and Sawyer, S. A. (1994). Selection intensity for codon bias. Genetics 138 227–234.
[21] Huerta-Sanchez, E., Durrett, R. and Bustamante, C. D. (2008). Population genetics of polymorphism and divergence under fluctuating selection. Genetics 178 325–337.
[22] Itô, K. and McKean, H. P. Jr. (1965). Diffusion Processes and Their Sample Paths. Academic Press, New York.
Mathematical Reviews (MathSciNet):
MR199891
[23] Karlin, S. and Taylor, H. M. (1981). A Second Course in Stochastic Processes. Academic Press, New York.
Mathematical Reviews (MathSciNet):
MR611513
[24] Keightley, P. D. (1994). The distribution of mutation effects on viability in Drosophila melanogaster. Genetics 138 1315–1322.
[25] Keightley, P. D. and Eyre-Walker, A. (2007). Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies. Genetics 177 2251–2261.
[26] Kemeny, J. G., Snell, J. L. and Knapp, A. W. (1966). Denumerable Markov Chains. Van Nostrand, New York.
Mathematical Reviews (MathSciNet):
MR207042
[27] Kimura, M. (1955). Solution of a process of random genetic drift with a continuous model. Proc. Natl. Acad. Sci. USA 41 144–150.
[28] Kingman, J. F. C. (1993). Poisson Processes. Oxford Studies in Probability 3. Oxford Univ. Press, New York.
[29] Lewontin, R. C. (1974). The Genetic Basis of Evolutionary Change. Columbia Univ. Press, New York.
[30] Li, W. H. (1997). Molecular Evolution. Sinauer, Sunderland, MA.
[31] McDonald, J. H. and Kreitman, M. (1991). Adaptive protein evolution at the Adh locus in Drosophila. Nature 351 652–654.
[32] Moran, P. A. P. (1959). The survival of a mutant gene under selection. J. Aust. Math. Soc. 1 121–126.
Mathematical Reviews (MathSciNet):
MR105747
[33] Nielsen, R., Bustamante, C., Clark, A. G., Glanowski, S., Sackton, T. B. et al. (2005). A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biology 3 e170.
[34] Press, W. H., Teukolsky, S. A., Vetterling, W. T. and Flannery, B. P. (2007). Numerical Recipes: The Art of Scientific Computing, 3rd ed. Cambridge Univ. Press, Cambridge.
[35] Protter, M. H. and Weinberger, H. F. (1967). Maximum Principles in Differential Equations. Prentice Hall, Englewood Cliffs, NJ.
Mathematical Reviews (MathSciNet):
MR219861
[36] Riesz, F. and Sz. Nagy, B. (1955). Functional Analysis. Frederick Ungar Publishing, New York.
Mathematical Reviews (MathSciNet):
MR71727
[37] Sawyer, S. (1974). A Fatou theorem for the general one-dimensional parabolic equation. Indiana Univ. Math. J. 24 451–498.
Mathematical Reviews (MathSciNet):
MR350880
[38] Sawyer, S. A. and Hartl, D. L. (1992). Population genetics of polymorphism and divergence. Genetics 132 1161–1176.
[39] Sawyer, S. A. (1994). Inferring selection and mutation from DNA sequences: The McDonald–Kreitman test revisited. In Non-Neutral Evolution: Theories and Molecular Data (G. B. Golding, ed.) 77–87. Chapman and Hall, New York.
[40] Sawyer, S. A., Kulathinal, R. J., Bustamante, C. D. and Hartl, D. L. (2003). Bayesian analysis suggests that most amino acid replacements in Drosophila are driven by positive selection. J. Mol. Evol. 57 S154–S164.
[41] Sawyer, S. A., Parsch, J., Zhang, Z. and Hartl, D. L. (2007). Prevalence of positive selection among nearly neutral amino acid replacements in Drosophila. Proc. Natl. Acad. Sci. USA 104 6504–6510.
[42] Smith, N. G. C. and Eyre-Walker, A. (2002). Adaptive protein evolution in Drosophila. Nature 415 1022–1024.
[43] Templeton, A. R. (1996). Contingency tests of neutrality using intra/interspecific gene trees: The rejection of neutrality for the evolution of the mitochondrial cytochrome oxidase II gene in the hominoid primates. Genetics 144 1263–1270.
[44] Trotter, H. F. (1958). Approximation of semi-groups of operators. Pacific J. Math. 8 887–919.
Mathematical Reviews (MathSciNet):
MR103420
[45] Wakeley, J. (2003). Polymorphism and divergence for island-model species. Genetics 163 411–420.
[46] Williamson, S., Alon, A. F. and Bustamante, C. D. (2004). Population genetics of polymorphism and divergence for diploid selection models with arbitrary dominance. Genetics 168 463–475.
[47] Williamson, S., Hernandez, R., Alon, A. F., Zhu, L., Nielsen, R. and Bustamante, C. D. (2005). Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc. Natl. Acad. Sci. USA 102 7882–7887.
[48] Wright, S. (1938). The distribution of gene frequencies under irreversible mutation. Proc. Natl. Acad. Sci. USA 24 253–259.
[49] Zhu, L. and Bustamante, C. D. (2005). A composite-likelihood approach for detecting directional selection from DNA sequence data. Genetics 170 1411–1421.