Evolution of the germline mutation rate across vertebrates.
Evolution of the germline mutation rate across vertebrates.
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DOI：
10.1038/s41586-023-05752-y
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发表时间：
2023-03
期刊：
影响因子：
64.8
通讯作者：
Zhang, Guojie
中科院分区：
文献类型：
--
作者：
Bergeron, Lucie A.;Besenbacher, Soren;Zheng, Jiao;Li, Panyi;Bertelsen, Mads Frost;Quintard, Benoit;Hoffman, Joseph I.;Li, Zhipeng;Leger, Judy St;Shao, Changwei;Stiller, Josefin;Gilbert, M. Thomas P.;Schierup, Mikkel H.;Zhang, Guojie
种系突变率决定了基因组进化的速度，并且本身就是一个进化参数。然而，人们对决定其进化的因素知之甚少，因为大多数突变率研究都集中在采用不同方法的单一物种上。在这里，我们通过测序和比较来自 68 个哺乳动物、鱼类、鸟类和爬行动物物种的 151 个亲子三人组的高覆盖率基因组，量化了脊椎动物的种系突变率。我们发现，物种之间的每代突变率相差 40 倍，哺乳动物和鸟类中雄性的突变率高于雌性，但爬行动物和鱼类中的突变率则不然。世代时间、成熟年龄和物种水平的繁殖力是影响物种间差异的关键生活史特征。此外，长期有效种群规模较大的物种往往每代的突变率较低，这为漂移障碍假说提供了支持。家养动物的每年突变率异常高，这些动物一直根据繁殖力特征（包括较短的世代时间）进行选择，这进一步支持了世代时间在突变率进化中的重要性。总的来说，我们对基于谱系的突变率的比较分析提供了关于脊椎动物突变率进化的生态学见解。通过测序和比较高覆盖率基因组，可以量化脊椎动物的种系突变率。
The germline mutation rate determines the pace of genome evolution and is an evolving parameter itself. However, little is known about what determines its evolution, as most studies of mutation rates have focused on single species with different methodologies. Here we quantify germline mutation rates across vertebrates by sequencing and comparing the high-coverage genomes of 151 parent–offspring trios from 68 species of mammals, fishes, birds and reptiles. We show that the per-generation mutation rate varies among species by a factor of 40, with mutation rates being higher for males than for females in mammals and birds, but not in reptiles and fishes. The generation time, age at maturity and species-level fecundity are the key life-history traits affecting this variation among species. Furthermore, species with higher long-term effective population sizes tend to have lower mutation rates per generation, providing support for the drift barrier hypothesis. The exceptionally high yearly mutation rates of domesticated animals, which have been continually selected on fecundity traits including shorter generation times, further support the importance of generation time in the evolution of mutation rates. Overall, our comparative analysis of pedigree-based mutation rates provides ecological insights on the mutation rate evolution in vertebrates. Using sequencing and comparing high-coverage genomes, the germline mutation rates across vertebrates are quantified.
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