西亚试剂优势供应上万种化学试剂产品，欢迎各位新老客户咨询、选购！
中国
联系我们
联系方式：400-990-3999 / 邮箱：sales@xiyashiji.com
西亚试剂 —— 品质可靠，值得信赖
Evidence for Positive Selection on the Osteogenin (BMP3) Gene in Human Populations
Dong-Dong Wu1,3#, Wei Jin2#, Xiao-Dan Hao1,3, Nelson Leung Sang Tang4,5,6, Ya-Ping Zhang1,2,4*
1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China, 2 Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, China, 3 Graduate School of the Chinese Academy of Sciences, Beijing, China, 4 KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, China, 5 Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, Special Administrative Region, People's Republic of China, 6 Laboratory for Genetics of Disease Susceptibility, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, Special Administrative Region, People's Republic of China
Background
Human skeletal system has evolved rapidly since the dispersal of modern humans from Africa, potentially driven by selection and adaptation. Osteogenin (BMP3) plays an important role in skeletal development and bone osteogenesis as an antagonist of the osteogenic bone morphogenetic proteins, and negatively regulates bone mineral density.
Methodology/Principal Findings
Here, we resequenced the BMP3 gene from individuals in four geographically separated modern human populations. Features supportive of positive selection in the BMP3 gene were found including the presence of an excess of nonsynonymous mutations in modern humans, and a significantly lower genetic diversity that deviates from neutrality. The prevalent haplotypes of the first exon region in Europeans demonstrated features of long-range haplotype homogeneity. In contrast with findings in European, the derived allele SNP Arg192Gln shows higher extended haplotype homozygosity in East Asian. The worldwide allele frequency distribution of SNP shows not only a high-derived allele frequency in Asians, but also in Americans, which is suggestive of functional adaptation.
Conclusions/Significance
In conclusion, we provide evidence for recent positive selection operating upon a crucial gene in skeletal development, which may provide new insight into the evolution of the skeletal system and bone development.
