Soni Vivak, Versoza Cyril J, Terbot John W, Jensen Jeffrey D, Pfeifer Susanne P
bioRxiv. 2024 Dec 28:2024.12.28.630620. doi: 10.1101/2024.12.28.630620.
The rate of input of new genetic mutations, and the rate at which that variation is reshuffled, are key evolutionary processes shaping genomic diversity. Importantly, these rates vary not just across populations and species, but also across individual genomes. Despite previous studies having demonstrated that failing to account for rate heterogeneity across the genome can bias the inference of both selective and neutral population genetic processes, mutation and recombination rate maps have to date only been generated for a relatively small number of organisms. Here, we infer such fine-scale maps for the aye-aye ( ) - a highly endangered strepsirrhine that represents one of the earliest splits in the primate clade, and thus stands as an important outgroup to the more commonly-studied haplorrhines - utilizing a recently released fully-annotated genome combined with high-quality population sequencing data. We compare our indirectly inferred rates to previous pedigree-based estimates, finding further evidence of relatively low mutation and recombination rates in aye-ayes compared to other primates.
新基因突变的输入速率以及该变异的重新组合速率，是塑造基因组多样性的关键进化过程。重要的是，这些速率不仅在不同种群和物种之间有所不同，而且在个体基因组之间也存在差异。尽管先前的研究表明，未能考虑全基因组的速率异质性会使对选择性和中性群体遗传过程的推断产生偏差，但迄今为止，仅针对相对较少数量的生物体生成了突变和重组率图谱。在这里，我们利用最近发布的经过充分注释的基因组以及高质量的群体测序数据，为指猴（一种高度濒危的原猴亚目动物，它代表了灵长类进化枝中最早的分支之一，因此是研究更为广泛的类人猿亚目的重要外类群）推断出这样的精细图谱。我们将间接推断出的速率与先前基于谱系的估计值进行比较，发现了进一步的证据，表明与其他灵长类动物相比，指猴的突变和重组率相对较低。
