Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics
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DOI：
10.1126/science.1083320
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发表时间：
2003-04-25
期刊：
影响因子：
56.9
通讯作者：
Collinge, J
中科院分区：
文献类型：
--
作者：
Mead, S;Stumpf, MPH;Collinge, J
库鲁病是一种获得性朊病毒病，主要局限于巴布亚新几内亚高地的福尔语系人群，在吃人肉的宴会上传播。人类朊蛋白基因（PRNP）中常见多态性的杂合性赋予朊病毒疾病相对抗性。库鲁病流行的老年幸存者，在太平间宴会上多次暴露，与年轻的未暴露的Fore形成鲜明对比，主要是PRNP 129杂合子。Kuru对Fore进行了强平衡选择，基本上消除了PRNP 129纯合子。世界范围内的PRNP单倍型多样性和编码等位基因频率表明，在现代人类的进化过程中，在这个位点发生了强平衡选择。
Kuru is an acquired prion disease largely restricted to the Fore linguistic group of the Papua New Guinea Highlands, which was transmitted during endocannibalistic feasts. Heterozygosity for a common polymorphism in the human prion protein gene (PRNP) confers relative resistance to prion diseases. Elderly survivors of the kuru epidemic, who had multiple exposures at mortuary feasts, are, in marked contrast to younger unexposed Fore, predominantly PRNP 129 heterozygotes. Kuru imposed strong balancing selection on the Fore, essentially eliminating PRNP 129 homozygotes. Worldwide PRNP haplotype diversity and coding allele frequencies suggest that strong balancing selection at this locus occurred during the evolution of modern humans.