Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

Science. 2003 Apr 25;300(5619):640-3. doi: 10.1126/science.1083320. Epub 2003 Apr 10.

Abstract

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.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cannibalism
  • Child
  • Codon
  • Creutzfeldt-Jakob Syndrome / genetics
  • Disease Outbreaks / history*
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Haplotypes
  • Heterozygote
  • History, 19th Century
  • History, 20th Century
  • History, Ancient
  • Homozygote
  • Humans
  • Immunity, Innate
  • Kuru / epidemiology
  • Kuru / genetics
  • Kuru / history*
  • Kuru / transmission
  • Linkage Disequilibrium
  • Male
  • Methionine / genetics
  • Middle Aged
  • Mutation
  • Papua New Guinea / epidemiology
  • Polymorphism, Genetic*
  • PrPC Proteins / genetics*
  • Selection, Genetic*
  • Valine / genetics

Substances

  • Codon
  • PrPC Proteins
  • Methionine
  • Valine