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PLOS ONE:人类的体重、大小在晚更新世与全新世早期发生降低很可能是适应性进化的结果

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发表于 2012-10-26 14:06 | 显示全部楼层 |阅读模式
本帖最后由 Ryan 于 2012-10-26 14:07 编辑

转自生物谷:

http://www.bioon.com/biology/Ecology/528585.shtml

Positive Selection on the Osteoarthritis-Risk and Decreased-Height Associated Variants at the GDF5 Gene in East Asians

Dong-Dong Wu, Gui-Mei Li, Wei Jin, Yan Li, Ya-Ping Zhang

GDF5 is a member of the bone morphogenetic protein (BMP) gene family, and plays an important role in the development of the skeletal system. Variants of the gene are associated with osteoarthritis and height in some human populations. Here, we resequenced the gene in individuals from four geographically separated human populations, and found that the evolution of the promoter region deviated from neutral expectations, with the sequence evolution driven by positive selection in the East Asian population, especially the haplotypes carrying the derived alleles of 5′ UTR SNPs rs143384 and rs143383. The derived alleles of rs143384 and rs143383, which are associated with a risk of osteoarthritis and decreased height, have high frequencies in non-Africans and show strong extended haplotype homozygosity and high population differentiation in East Asian. It is concluded that positive selection has driven the rapid evolution of the two osteoarthritis osteoarthritis-risk and decreased height associated variants of the human GDF5 gene, and supports the suggestion that the reduction in body size during the terminal Pleistocene and Holocene period might have been an adaptive process influenced by genetic factors.

发表以及全文阅读:
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0042553



人类在进化过程中获得许多区别于其它灵长类的生理、形态、行为上的独特性状。其中,骨骼系统的差异尤为明显,这一点毋庸置疑。同样,现代人群表现出来的表型多样性有很大一部分是由骨骼系统塑造的。人类的体重、大小在晚更新世与全新世早期发生降低的趋势。这种趋势可能是由于饮食改变所致:这个时期,尤其农业出现,人类从狩猎转变为自己生产食物,生产技术要求的提高使得体型高大变得并不占有优势,同时营养经常匮乏也会导致身材降低。另一方面,这种趋势也可能是遗传因素(如适应性进化)所致。

GDF5是骨形态形成蛋白家族成员之一,在骨骼系统特别是四肢软骨发育过程中起到至关重要的作用。大量研究已表明,该基因的5’端启动子区域的SNPs rs143383和rs143384的衍生等位基因和关节炎有显著相关性。另外,它们导致GDF5基因的表达水平的降低,进而减缓四肢骨骼生长速率。因而,这些衍生等位基因又与人类身高的降低存在相关性。

中国科学院昆明动物所张亚平院士实验室吴东东、李桂梅等人详细分析研究了人类GDF5群体多态性特征,发现rs143383和rs143384的衍生等位基因在东亚人群中受到达尔文正选择的作用,而这些衍生等位基因又与身高的降低显著相关。因而,此数据支持人类的体重、大小在晚更新世与全新世早期发生降低很可能是适应性进化的结果。
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