浙江大学张国捷等研究人员合作揭示脊椎动物种系突变率的演化。这一研究成果于2023年3月1日在线发表在国际学术期刊《自然》上。
通过对哺乳动物、鱼类、鸟类和爬行动物等68个物种的151个亲子三代的高覆盖率基因组进行测序和比较，研究人员量化了整个脊椎动物的生殖系突变率。结果表明，每一代的突变率在不同的物种之间有40倍的差异，在哺乳动物和鸟类中，雄性的突变率高于雌性，但在爬行动物和鱼类中则不然。生成时间、成熟年龄和物种水平的繁殖力是影响物种间这种差异的关键生命史特征。
此外，具有较高的长期有效种群规模的物种往往每一代的突变率较低，为漂移障碍假说提供了支持。驯化动物的年突变率特别高，它们在繁殖力特征上不断被选择，包括较短的世代时间，进一步支持了世代时间在突变率演化中的重要性。总的来说，研究人员对基于血统的突变率的比较分析为脊椎动物的突变率演化提供了生态学方面的见解。
据悉，种系突变率决定了基因组演化的速度，它本身就是一个不断演化的参数。然而，人们对决定其演化的因素知之甚少，因为大多数关于突变率的研究都集中在具有不同方法的单一物种上。
附：英文原文
Title: Evolution of the germline mutation rate across vertebrates
Author: Bergeron, Lucie A., Besenbacher, Sren, Zheng, Jiao, Li, Panyi, Bertelsen, Mads Frost, Quintard, Benoit, Hoffman, Joseph I., Li, Zhipeng, St. Leger, Judy, Shao, Changwei, Stiller, Josefin, Gilbert, M. Thomas P., Schierup, Mikkel H., Zhang, Guojie
Issue&Volume: 2023-03-01
Abstract: The germline mutation rate determines the pace of genome evolution and is an evolving parameter itself1. However, little is known about what determines its evolution, as most studies of mutation rates have focused on single species with different methodologies2. 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 hypothesis3. 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.
DOI: 10.1038/s41586-023-05752-y
Source: https://www.nature.com/articles/s41586-023-05752-y
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
