Department of Biology, Indiana University, Bloomington, IN, USA.
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Mol Biol Evol. 2022 Jul 2;39(7). doi: 10.1093/molbev/msac147.
The mutation rate is a fundamental evolutionary parameter with direct and appreciable effects on the health and function of individuals. Here, we examine this important parameter in the domestic cat, a beloved companion animal as well as a valuable biomedical model. We estimate a mutation rate of 0.86 × 10-8 per bp per generation for the domestic cat (at an average parental age of 3.8 years). We find evidence for a significant paternal age effect, with more mutations transmitted by older sires. Our analyses suggest that the cat and the human have accrued similar numbers of mutations in the germline before reaching sexual maturity. The per-generation mutation rate in the cat is 28% lower than what has been observed in humans, but is consistent with the shorter generation time in the cat. Using a model of reproductive longevity, which takes into account differences in the reproductive age and time to sexual maturity, we are able to explain much of the difference in per-generation rates between species. We further apply our reproductive longevity model in a novel analysis of mutation spectra and find that the spectrum for the cat resembles the human mutation spectrum at a younger age of reproduction. Together, these results implicate changes in life-history as a driver of mutation rate evolution between species. As the first direct observation of the paternal age effect outside of rodents and primates, our results also suggest a phenomenon that may be universal among mammals.
突变率是一个基本的进化参数,对个体的健康和功能有着直接且显著的影响。在这里,我们研究了家猫这一重要参数,家猫是一种深受喜爱的伴侣动物,也是一种有价值的生物医学模型。我们估计家猫的突变率为 0.86×10-8 每碱基对每代(平均双亲年龄为 3.8 岁)。我们发现了一个显著的父龄效应的证据,即年龄较大的雄性亲本传递了更多的突变。我们的分析表明,在达到性成熟之前,猫和人类的生殖系中积累了相似数量的突变。猫的每代突变率比人类低 28%,但与猫较短的世代时间一致。通过考虑繁殖年龄和达到性成熟时间的差异,我们使用生殖寿命模型来解释物种间每代突变率的差异。我们进一步将我们的生殖寿命模型应用于突变谱的新分析中,发现猫的突变谱在生殖年龄较早时与人类的突变谱相似。这些结果共同表明,生活史的变化是物种间突变率进化的驱动因素。作为除啮齿动物和灵长类动物以外首次对父龄效应的直接观察,我们的结果还表明,这种现象可能在哺乳动物中普遍存在。