Dictionary of Human Evolution and Biology

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Prion Protein Polymorphism

Population variation in the prion protein. At certain amino acid positions, sheep, cows, humans, and other animals share apparently homologous clinical variants. At position 129 of the PRNP gene on HSA 20p, for example, humans can have either valine or methionine; this results in three possible genotypes: VV, VM, and MM. The MM genotype predisposes individuals to both new variant Creutzfeldt-Jakob disease and Kuru. People with the VV genotype seem to be genotypically pre-disposed to another condition, fatal familial insomnia. The VM heterozygote appears to have a higher fitness than either of the homozygotes, VV or MM.

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