Winter Temperature and UV Are Tightly Linked to Genetic Changes in the p53 Tumor Suppressor Pathway in Eastern Asia

被引：94

作者：

Shi, Hong ^{[1
,3
]}

Tan, Si-jie ^{[2
]}

Zhong, Hua ^{[4
]}

Hu, Wenwei ^{[5
]}

Levine, Arnold ^{[5
]}

Xiao, Chun-jie ^{[2
]}

Peng, Yi ^{[1
,3
]}

Qi, Xue-bin ^{[1
,3
]}

Shou, Wei-hua ^{[2
]}

Ma, Run-lin Z. ^{[4
]}

Li, Yi ^{[6
]}

Su, Bing ^{[1
,3
]}

Lu, Xin ^{[1
,3
,7
]}

机构：

[1] Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Resources & Evolut, Kunming 650223, Peoples R China

[2] Yunnan Univ, Ctr Human Genet, Kunming 650091, Peoples R China

[3] Chinese Acad Sci, Kunming Primate Res Ctr, Kunming 650223, Peoples R China

[4] Chinese Acad Sci, Inst Genet & Dev Biol, Beijing 100101, Peoples R China

[5] Univ Med & Dent New Jersey, Canc Inst New Jersey, New Brunswick, NJ 08540 USA

[6] Qujing Normal Coll, Qujing 655011, Yunnan, Peoples R China

[7] Univ Oxford, Nuffield Dept Clin Med, Ludwig Inst Canc Res, Oxford OX3 7DQ, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 04期

基金：

中国国家自然科学基金;

关键词：

SINGLE NUCLEOTIDE POLYMORPHISM; EMBRYONIC LETHALITY; MDM2-DEFICIENT MICE; MDM2; PROMOTER; MOUSE MODELS; HUMANS; SELECTION; VARIANTS; CANCER; REPRODUCTION;

D O I：

10.1016/j.ajhg.2009.03.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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.

引用

页码：534 / 541

页数：8

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