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Am J Hum Genet. 2009 Apr;84(4):534-41. doi: 10.1016/j.ajhg.2009.03.009. Epub 2009 Apr 2.

Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia.

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  • 1State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology and Kunming Primate Research Centre, Chinese Academy of Sciences, Kunming 650223, PR China.

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.

PMID:
19344876
PMCID:
PMC2667983
DOI:
10.1016/j.ajhg.2009.03.009
[PubMed - indexed for MEDLINE]
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