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群体谱系中每当出现大家庭时就会发生合并爆发。

Bursts of coalescence within population pedigrees whenever big families occur.

机构信息

Department of Mathematics, Indiana University, Bloomington, IN 47405, USA.

Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.

出版信息

Genetics. 2024 May 7;227(1). doi: 10.1093/genetics/iyae030.

Abstract

We consider a simple diploid population-genetic model with potentially high variability of offspring numbers among individuals. Specifically, against a backdrop of Wright-Fisher reproduction and no selection, there is an additional probability that a big family occurs, meaning that a pair of individuals has a number of offspring on the order of the population size. We study how the pedigree of the population generated under this model affects the ancestral genetic process of a sample of size two at a single autosomal locus without recombination. Our population model is of the type for which multiple-merger coalescent processes have been described. We prove that the conditional distribution of the pairwise coalescence time given the random pedigree converges to a limit law as the population size tends to infinity. This limit law may or may not be the usual exponential distribution of the Kingman coalescent, depending on the frequency of big families. But because it includes the number and times of big families, it differs from the usual multiple-merger coalescent models. The usual multiple-merger coalescent models are seen as describing the ancestral process marginal to, or averaging over, the pedigree. In the limiting ancestral process conditional on the pedigree, the intervals between big families can be modeled using the Kingman coalescent but each big family causes a discrete jump in the probability of coalescence. Analogous results should hold for larger samples and other population models. We illustrate these results with simulations and additional analysis, highlighting their implications for inference and understanding of multilocus data.

摘要

我们考虑一个简单的二倍体群体遗传模型,其中个体之间的后代数量具有潜在的高度变异性。具体来说,在 Wright-Fisher 繁殖且没有选择的背景下,存在着发生大家庭的额外可能性,这意味着一对个体的后代数量与种群大小相当。我们研究了在这种模型下生成的群体系谱如何影响在没有重组的单个常染色体位点上大小为 2 的样本的祖先遗传过程。我们的群体模型属于已经描述了多合并合并过程的类型。我们证明了在随机系谱给定的情况下,成对合并时间的条件分布随着种群大小趋于无穷大而收敛到极限定律。这个极限定律可能是也可能不是 Kingman 合并的通常指数分布,这取决于大家庭的频率。但是,由于它包括大家庭的数量和时间,因此与通常的多合并合并模型不同。通常的多合并合并模型被视为描述了系谱的边缘或平均祖先过程。在系谱条件下的限制祖先过程中,可以使用 Kingman 合并来模拟大家庭之间的间隔,但每个大家庭都会导致合并概率的离散跳跃。类似的结果应该适用于更大的样本和其他群体模型。我们通过模拟和其他分析来说明这些结果,突出了它们对多基因座数据推断和理解的影响。

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