Mice with gene targetted prion protein alterations show that Prnp, Sinc and Prni are congruent

Nat Genet. 1998 Feb;18(2):118-25. doi: 10.1038/ng0298-118.

Abstract

Classical genetic analysis has identified Sinc/Prni as the major gene controlling mouse scrapie incubation time. Sinc/Prni is linked to Prnp, the gene encoding the prion protein (PrP). Prnp alleles express distinct PrP protein variants, PrP A and PrP B, which arise from codon 108L/F and 189 T/V dimorphisms. Prnp genotype segregates with incubation time length which suggests, but does not prove, that incubation time is controlled by PrP dimorphisms, and that the Sinc/Prni and Prnp loci are congruent. We have used gene targetting to construct mice in which the endogenous Prnp allele has been modified to express PrP B instead of PrP A. Challenge with a mouse-adapted BSE strain results in dramatically shortened incubation times and demonstrates that PrP dimorphisms at codon 108 and/or 189 control incubation time, and that Sinc/Prni and Prnp are congruent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Brain / metabolism
  • Brain / pathology
  • Codon
  • Genetic Variation
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Molecular Sequence Data
  • Point Mutation
  • Prions / biosynthesis
  • Prions / chemistry
  • Prions / genetics*
  • Scrapie / genetics
  • Scrapie / pathology
  • Species Specificity

Substances

  • Codon
  • Prions

Associated data

  • GENBANK/M13685
  • GENBANK/M18070
  • GENBANK/X83612
  • GENBANK/X83613