A global catalog of whole-genome diversity from 233 primate species
A global catalog of whole-genome diversity from 233 primate species
复制标题
DOI：
10.1126/science.abn7829
复制
发表时间：
2023-06-02
期刊：
影响因子：
56.9
通讯作者：
Bonet，Tomas Marques
中科院分区：
文献类型：
--
作者：
Kuderna，Lukas F. K.;Gao，Hong;Bonet，Tomas Marques
灵长类物种的形态和行为的丰富多样性为研究基因组多样性对基本生物过程的影响提供了信息背景。对这种多样性的分析提供了对进化和保护生物学长期存在的问题的深入了解，鉴于这些物种面临的严重威胁，这是迫切的。在这里，我们提出了来自233种灵长类动物的高覆盖率全基因组数据，占86%的属和所有16个家庭。该数据集与化石校准一起用于创建核DNA同源性，并重新评估灵长类分支之间的进化分歧时间。我们发现，跨家族和地理区域的物种内遗传多样性与气候和社会性有关，但与灭绝风险无关。此外，突变率因物种而异，可能受到有效人口规模的影响。最后，我们发现了以前被认为是人类特异性的错义突变的广泛复发。本研究将为灵长类基因组学研究开辟广阔的研究途径。
The rich diversity of morphology and behavior displayed across primate species provides an informative context in which to study the impact of genomic diversity on fundamental biological processes. Analysis of that diversity provides insight into long-standing questions in evolutionary and conservation biology and is urgent given severe threats these species are facing. Here, we present high-coverage whole-genome data from 233 primate species representing 86% of genera and all 16 families. This dataset was used, together with fossil calibration, to create a nuclear DNA phylogeny and to reassess evolutionary divergence times among primate clades. We found within-species genetic diversity across families and geographic regions to be associated with climate and sociality, but not with extinction risk. Furthermore, mutation rates differ across species, potentially influenced by effective population sizes. Lastly, we identified extensive recurrence of missense mutations previously thought to be human specific. This study will open a wide range of research avenues for future primate genomic research.