Shi Hong, Tan Si-jie, Zhong Hua, Hu Wenwei, Levine Arnold, Xiao Chun-jie, Peng Yi, Qi Xue-bin, Shou Wei-hua, Ma Run-lin Z, Li Yi, Su Bing, Lu Xin
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology and Kunming Primate Research Centre, Chinese Academy of Sciences, Kunming 650223, PR China.
Am J Hum Genet. 2009 Apr;84(4):534-41. doi: 10.1016/j.ajhg.2009.03.009. Epub 2009 Apr 2.
The tumor suppressor p53 is a master sensor of stress. Two human-specific polymorphisms, p53 codon 72 and MDM2 SNP309, influence the activities of p53. There is a tight association between cold winter temperature and p53 Arg72 and between low UV intensity and MDM2 SNP309 G/G in a cohort of 4029 individuals across Eastern Asia that suggests causative selection. Moreover, the two polymorphisms are not coselected. Haplotype-based selection analysis further suggests that this is a striking example of two functional polymorphisms being strongly selected for in human populations in response to environmental stresses.
肿瘤抑制因子p53是应激的主要传感器。两种人类特有的多态性,即p53密码子72和MDM2 SNP309,会影响p53的活性。在东亚地区4029人的队列中,寒冷的冬季温度与p53 Arg72以及低紫外线强度与MDM2 SNP309 G/G之间存在紧密关联,这表明存在因果选择。此外,这两种多态性并非共同选择的。基于单倍型的选择分析进一步表明,这是两个功能多态性在人类群体中因环境压力而被强烈选择的一个显著例子。