Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.
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.
Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.
Qü
Q
Zhang
Feng
F
Zhang
Xiao-Hua
XH
Chen
Yin-Qiu
YQ
Wang
Wei-Qi
WQ
Wang
Alice A
AA
Lin
Luca L
LL
Cavalli-Sforza
Li
L
Jin
Ran
R
Huo
Jia-Hao
JH
Sha
Zheng
Z
Li
Bing
B
Su
D000595:Amino Acid Sequence; D000818:Animals; D019143:Evolution, Molecular; D005787:Gene Frequency; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics; D011110:Polymorphism, Genetic; D011323:Primates / Q000235:genetics; D012641:Selection, Genetic; D013091:Spermatogenesis / Q000235:genetics*; D033921:Vesicular Transport Proteins
D018398:Homeodomain Proteins; C474264:SPATA16 protein, human; D033921:Vesicular Transport Proteins