Institute of Ecology and Evolution, University of Edinburgh, Edinburgh EH9 3FL, United Kingdom;
Institute of Ecology and Evolution, University of Edinburgh, Edinburgh EH9 3FL, United Kingdom.
Genome Res. 2023 Apr;33(4):587-598. doi: 10.1101/gr.277383.122. Epub 2023 Apr 10.
The rates of mutation, recombination, and transposition are core parameters in models of evolution. They impact genetic diversity, responses to ongoing selection, and levels of genetic load. However, even for key evolutionary model species such as and , few estimates of these parameters are available, and we have little idea of how rates vary between individuals, sexes, or populations. Knowledge of this variation is fundamental for parameterizing models of genome evolution. Here, we provide direct estimates of mutation, recombination, and transposition rates and their variation in a West African and a European population of and a European population of Across 89 flies, we observe 58 single-nucleotide mutations, 286 crossovers, and 89 transposable element (TE) insertions. Compared to the European , we find the West African population has a lower mutation rate (1.67 × 10 site gen vs. 4.86 × 10 site gen) and a lower transposition rate (8.99 × 10 copy gen vs. 23.36 × 10 copy gen), but a higher recombination rate (3.44 cM/Mb vs. 2.06 cM/Mb). The European population has a similar mutation rate to European , but a significantly higher recombination rate and a lower, but not significantly different, transposition rate. Overall, we find paternal-derived mutations are more frequent than maternal ones in both species. Our study quantifies the variation in rates of mutation, recombination, and transposition among different populations and sexes, and our direct estimates of these parameters in and will benefit future studies in population and evolutionary genetics.
突变率、重组率和转座率是进化模型的核心参数。它们影响遗传多样性、对持续选择的反应和遗传负荷水平。然而，即使对于 和 等关键的进化模式物种，这些参数的估计也很少，我们也不清楚这些速率在个体、性别或种群之间如何变化。这种变化的知识是对基因组进化模型进行参数化的基础。在这里，我们提供了在一个西非和一个欧洲的 和一个欧洲的 种群中突变率、重组率和转座率及其变化的直接估计。在 89 只果蝇中，我们观察到 58 个单核苷酸突变、286 个交叉和 89 个转座元件 (TE) 插入。与欧洲 相比，我们发现西非种群的突变率较低（1.67×10 个位点基因 vs. 4.86×10 个位点基因），转座率较低（8.99×10 个拷贝基因 vs. 23.36×10 个拷贝基因），但重组率较高（3.44 cM/Mb vs. 2.06 cM/Mb）。欧洲 种群的突变率与欧洲 相似，但重组率明显较高，转座率较低，但无显著差异。总体而言，我们发现两种物种中父系来源的突变比母系来源的更频繁。我们的研究量化了不同种群和性别的突变率、重组率和转座率的变化，我们对 和 中这些参数的直接估计将有益于未来的群体和进化遗传学研究。
