A global catalog of whole-genome diversity from 233 primate species

Kuderna, L.F.K., Gao, H., Janiak, M.C., Kuhlwilm, M., Orkin, J.D., Bataillon, T., Manu, S., Valenzuela, A., Bergman, J., Rousselle, M., Silva, F.E., Agueda, L., Blanc, J., Gut, M., de Vries, D., Goodhead, I., Harris, R.A., Raveendran, M., Jensen, A., Chuma, I.S., Horvath, J.E., Hvilsom, C., Juan, D., Frandsen, P., Schraiber, J.G., de Melo, F.R., Bertuol, F., Byrne, H., Sampaio, I., Farias, I., Valsecchi, J., Messias, M., da Silva, M.N.F., Trivedi, M., Rossi, R., Hrbek, T., Andriaholinirina, N., Rabarivola, C.J., Zaramody, A., Jolly, C.J., Phillips-Conroy, J., Wilkerson, G., Abee, C., Simmons, J.H., Fernandez-Duque, E., Kanthaswamy, S., Shiferaw, F., Wu, D., Zhou, L., Shao, Y., Zhang, G., Keyyu, J.D., Knauf, S., Le, M.D., Lizano, E., Merker, S., Navarro, A., Nadler, T., Khor, C.C., Lee, J., Tan, P., Lim, W.K., Kitchener, A.C., Zinner, D., Gut, I., Melin, A.D., Guschanski, K., Schierup, M.H., Beck, R.M.D., Umapathy, G., Roos, C., Boubli, J.P., Rogers, J., Farh, K.K.-H., Marques Bonet, T., 2023. A global catalog of whole-genome diversity from 233 primate species. Science 380, 906-913.

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.


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