Rapid Evolution, Genetic Variations, and Functional Association of the Human Spermatogenesis-Related Gene NYD-SP12 |
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| Authors: | Qü Zhang Feng Zhang Xiao-hua Chen Yin-qiu Wang Wei-qi Wang Alice A Lin Luca L Cavalli-Sforza Li Jin Ran Huo Jia-hao Sha Zheng Li Bing Su |
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| Institution: | (1) Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China;(2) Kunming Primate Research Center, Chinese Academy of Sciences, Kunming, Yunnan, China;(3) State Key Laboratory of Genetic Engineering and Center for Anthropological Studies, School of Life Sciences, Fudan University, Shanghai, China;(4) Department of Pathology, Third Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China;(5) Department of Genetics, Stanford University, Stanford, California, USA;(6) Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu, China;(7) Renji Hospital, Shanghai Second Medical University, Shanghai, China |
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| Abstract: | NYD-SP12 is a recently identified spermatogenesis-related gene with a pivotal role in human testis development. In this study, we
analyzed between-species divergence and within-species variation of NYD-SP12 in seven representative primate species, four worldwide human populations, and 124 human clinical subjects. Our results indicate
that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or
sexual selection. We observed significant interpopulation divergence among human populations, which might be due to the varied
demographic histories. In the association analysis, we demonstrated significant frequency discrepancy of a synonymous sequence
polymorphism among the clinical groups with different sperm traits.
Reviewing Editor: Dr. Manyuan Long] |
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| Keywords: | Genetic variations Darwinian positive selection Spermatogenesis Sexual selection Human evolution |
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