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.
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Acknowledgments
This study was supported by grants from the Chinese Academy of Sciences (KSCX1-YW-R-34), the National Natural Science Foundation of China (30370755, 30525028, 30630013), the Natural Science Foundation of Yunnan Province of China, and the National 973 Project of China (2006CB701506). We thank Hui Zhang and Yi-chuan Yu for technical help.
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[Reviewing Editor: Dr. Manyuan Long]
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Zhang, Q., Zhang, F., Chen, Xh. et al. Rapid Evolution, Genetic Variations, and Functional Association of the Human Spermatogenesis-Related Gene NYD-SP12 . J Mol Evol 65, 154–161 (2007). https://doi.org/10.1007/s00239-006-0127-6
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DOI: https://doi.org/10.1007/s00239-006-0127-6