Nucleation-dependent conformational conversion of the Y145Stop variant of human prion protein: structural clues for prion propagation

Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12069-74. doi: 10.1073/pnas.2033281100. Epub 2003 Sep 30.

Abstract

One of the most intriguing disease-related mutations in human prion protein (PrP) is the Tyr to Stop codon substitution at position 145. This mutation results in a Gerstmann-Straussler-Scheinker-like disease with extensive PrP amyloid deposits in the brain. Here, we provide evidence for a spontaneous conversion of the recombinant polypeptide corresponding to the Y145Stop variant (huPrP23-144) from a monomeric unordered state to a fibrillar form. This conversion is characterized by a protein concentration-dependent lag phase and has characteristics of a nucleation-dependent polymerization. Atomic force microscopy shows that huPrP23-144 fibrils are characterized by an apparent periodicity along the long axis, with an average period of 20 nm. Fourier-transform infrared spectra indicate that the conversion is associated with formation of beta-sheet structure. However, the infrared bands for huPrP23-144 are quite different from those for a synthetic peptide PrP106-126, suggesting conformational non-equivalence of beta-structures in the disease-associated Y145Stop variant and a frequently used short model peptide. To identify the region that is critical for the self-seeded assembly of huPrP23-144 amyloid, experiments were performed by using the recombinant polypeptides corresponding to prion protein fragments 23-114, 23-124, 23-134, 23-137, 23-139, and 23-141. Importantly, none of the fragments ending before residue 139 showed a propensity for conformational conversion to amyloid fibrils, indicating that residues within the 138-141 region are essential for this conversion.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Codon, Terminator / genetics
  • Endopeptidase K
  • Genetic Variation*
  • Gerstmann-Straussler-Scheinker Disease / etiology
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / metabolism
  • Humans
  • In Vitro Techniques
  • Microscopy, Atomic Force
  • Microscopy, Electron
  • Mutagenesis, Site-Directed
  • Peptide Fragments / chemistry
  • Peptide Mapping
  • Prions / chemistry*
  • Prions / genetics*
  • Prions / ultrastructure
  • Protein Conformation
  • Protein Structure, Secondary
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / genetics
  • Recombinant Proteins / ultrastructure
  • Spectroscopy, Fourier Transform Infrared

Substances

  • Codon, Terminator
  • Peptide Fragments
  • Prions
  • Recombinant Proteins
  • Endopeptidase K