现代人类的表型多样性很大部分是由骨骼系统塑造而成的，例如不同人群在体型、骨密度、脸型等等方面都表现出巨大差异。实际上，伴随着农业的出现，人类骨骼系统发生快速进化。
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BMP3 (Bone morphogenetic protein 3)是其它骨形成蛋白的拮抗剂，在骨骼系统发育中起重要作用。中国科学院昆明动物研究所博士研究生吴东东，云南大学博士研究生靳伟等，与导师张亚平院士在人类群体中系统研究了BMP3基因的进化历史和群体多态性特征，发现该基因发生大量非同义突变，具有较低的遗传多样度，以及显着长区域单倍型同质性。这些现象表明BMP3基因在人类群体中受到达尔文正选择的作用，可能是人类骨骼快速进化的遗传机制之一。此研究已发表于国际知名期刊PLoS One。这是该实验室研究人类骨骼系统快速进化遗传机制的系列性工作，前期的一项工作已发表于Human Molecular Genetics （生物谷Bioon.net）
关联阅读：Human Molecular Genetics：人类走出非洲，环境选择新骨骼基因
生物谷推荐原文出处：
PLoS ONE doi:10.1371/journal.pone.0010959
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.
