Hong Shi,Si-jie Tan,Hua Zhong,Wenwei Hu,Arnold Levine,Chun-jie Xiao,Yi Peng,Xue-bin Qi,Wei-hua Shou,Run-lin Z. Ma,Yi Li,Bing Su, andXin Lu
AJHG Volume 84, Issue 4, 534-541, 02 April 2009
Abstract: 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.