English

Latent mutations in the ancestries of alleles under selection

Probability 2024-04-29 v4 Populations and Evolution

Abstract

We consider a single genetic locus with two alleles A1A_1 and A2A_2 in a large haploid population. The locus is subject to selection and two-way, or recurrent, mutation. Assuming the allele frequencies follow a Wright-Fisher diffusion and have reached stationarity, we describe the asymptotic behaviors of the conditional gene genealogy and the latent mutations of a sample with known allele counts, when the count n1n_1 of allele A1A_1 is fixed, and when either or both the sample size nn and the selection strength α\lvert\alpha\rvert tend to infinity. Our study extends previous work under neutrality to the case of non-neutral rare alleles, asserting that when selection is not too strong relative to the sample size, even if it is strongly positive or strongly negative in the usual sense (α\alpha\to -\infty or α+\alpha\to +\infty), the number of latent mutations of the n1n_1 copies of allele A1A_1 follows the same distribution as the number of alleles in the Ewens sampling formula. On the other hand, very strong positive selection relative to the sample size leads to neutral gene genealogies with a single ancient latent mutation. We also demonstrate robustness of our asymptotic results against changing population sizes, when one of α\lvert\alpha\rvert or nn is large.

Keywords

Cite

@article{arxiv.2306.08142,
  title  = {Latent mutations in the ancestries of alleles under selection},
  author = {Wai-Tong Louis Fan and John Wakeley},
  journal= {arXiv preprint arXiv:2306.08142},
  year   = {2024}
}

Comments

47 pages, 3 figures