Castellano David, Vourlaki Ioanna-Theoni, Gutenkunst Ryan N, Ramos-Onsins Sebastian E
Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ, USA.
Centre for Research in Agricultural Genomics (CRAG, CSIC-IRTA-UAB-UB), Campus UAB, Vall de la Moronta s/n, Cerdanyola del Valles, Barcelona, 08193, Spain.
Peer Community J. 2025;5. doi: 10.24072/pcjournal.540. Epub 2025 Mar 27.
Domestication is a process marked by complex interactions between demographic changes and selective pressures, which together shape genetic diversity. While the phenotypic outcomes of domestication are well documented, its genetic basis-particularly the dynamics of selection-remain less well understood. To investigate these dynamics, we performed simulations designed to approximate the demographic history of large domestic mammals. These simulations used selection coefficients as a modeling tool to represent changes in selection pressures, recognizing that such coefficients are abstractions rather than direct representations of biological reality. Specifically, we analyzed site frequency spectra (SFS) under varying distributions of fitness effects (DFE) and proportions of mutations with divergent selective pressures. Our results show that the discretized deleterious DFE can be reliably inferred from the SFS of a single population, but reconstructing the beneficial DFE and demographic history remains challenging, even when using the joint SFS of both populations. We further developed a novel joint DFE inference model to estimate the proportion of mutations with divergent selection coefficients ( ), although we found that signals of classic hard sweeps can mimic increases in , complicating interpretation. These findings underscore both the utility and limitations of DFE inference and highlight the need for caution when interpreting demographic histories in domesticated populations based on such modeling assumptions.
驯化是一个以人口结构变化与选择压力之间复杂相互作用为特征的过程,这些相互作用共同塑造了遗传多样性。虽然驯化的表型结果已有充分记录,但其遗传基础——尤其是选择动态——仍不太为人所理解。为了研究这些动态,我们进行了模拟,旨在近似大型家养哺乳动物的人口历史。这些模拟使用选择系数作为建模工具来表示选择压力的变化,同时认识到这些系数是抽象概念,而非生物现实的直接体现。具体而言,我们分析了在不同的适合度效应分布(DFE)和具有不同选择压力的突变比例下的位点频率谱(SFS)。我们的结果表明,离散的有害DFE可以从单个种群的SFS中可靠推断出来,但即使使用两个种群的联合SFS,重建有益DFE和人口历史仍然具有挑战性。我们进一步开发了一种新颖的联合DFE推断模型,以估计具有不同选择系数( )的突变比例,尽管我们发现经典硬扫荡的信号可以模拟 的增加,从而使解释变得复杂。这些发现强调了DFE推断的效用和局限性,并突出了在基于此类建模假设解释驯化种群的人口历史时需要谨慎的必要性。