現(xiàn)代人類的表型多樣性很大部分是由骨骼系統(tǒng)塑造而成的,，例如不同人群在體型,、骨密度,、臉型等等方面都表現(xiàn)出巨大差異,。實(shí)際上,，伴隨著農(nóng)業(yè)的出現(xiàn)，人類骨骼系統(tǒng)發(fā)生快速進(jìn)化,。
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BMP3 (Bone morphogenetic protein 3)是其它骨形成蛋白的拮抗劑,，在骨骼系統(tǒng)發(fā)育中起重要作用,。中國科學(xué)院昆明動(dòng)物研究所博士研究生吳東東，云南大學(xué)博士研究生靳偉等,，與導(dǎo)師張亞平院士在人類群體中系統(tǒng)研究了BMP3基因的進(jìn)化歷史和群體多態(tài)性特征,，發(fā)現(xiàn)該基因發(fā)生大量非同義突變，具有較低的遺傳多樣度,，以及顯著長區(qū)域單倍型同質(zhì)性,。這些現(xiàn)象表明BMP3基因在人類群體中受到達(dá)爾文正選擇的作用，可能是人類骨骼快速進(jìn)化的遺傳機(jī)制之一,。此研究已發(fā)表于國際知名期刊PLoS One,。這是該實(shí)驗(yàn)室研究人類骨骼系統(tǒng)快速進(jìn)化遺傳機(jī)制的系列性工作，前期的一項(xiàng)工作已發(fā)表于Human Molecular Genetics （生物谷Bioon.net）
關(guān)聯(lián)閱讀：Human Molecular Genetics：人類走出非洲,，環(huán)境選擇新骨骼基因
生物谷推薦原文出處：
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.
