研究人员展示了来自233个灵长类物种的高覆盖率全基因组数据，代表了86%的属和所有16个科。这个数据集与化石标定一起被用来创建一个核DNA系统发育，并重新评估灵长类动物支系之间的演化分歧时间。研究人员发现跨科和跨地理区域的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，不同物种的突变率不同，可能受到有效种群规模的影响。最后，研究人员发现了以前被认为是人类特有的错义突变的广泛复现。这项研究将为未来的灵长类动物基因组学研究开辟广泛的研究途径。
据介绍，灵长类物种在形态和行为上表现出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一个信息背景。对这种多样性的分析使人们对演化和保护生物学中长期存在的问题有了深入的了解，而且鉴于这些物种所面临的严重威胁，这种分析是非常迫切的。
附：英文原文
Title: A global catalog of whole-genome diversity from 233 primate species
Author: Lukas F. K. Kuderna, Hong Gao, Mareike C. Janiak, Martin Kuhlwilm, Joseph D. Orkin, Thomas Bataillon, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rousselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R. Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idrissa S. Chuma, Julie E. Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Joshua G. Schraiber, Fabiano R. de Melo, Fabrício Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, Joo Valsecchi, Malu Messias, Maria N. F. da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J. Rabarivola, Alphonse Zaramody, Clifford J. Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H. Simmons, Eduardo Fernandez-Duque, Sree Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D. Keyyu, Sascha Knauf, Minh D. Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C. Kitchener, Dietmar Zinner, Ivo Gut, Amanda D. Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M. D. Beck, Govindhaswamy Umapathy, Christian Roos, Jean P. Boubli, Jeffrey Rogers, Kyle Kai-How Farh, Tomas Marques Bonet
Issue&Volume: 2023-06-02
Abstract: 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.
DOI: abn7829
Source: https://www.science.org/doi/10.1126/science.abn7829