Presenilin-1 D257A and D385A mutants fail to cleave Notch in their endoproteolyzed forms, but only presenilin-1 D385A mutant can restore its gamma-secretase activity with the compensatory overexpression of normal C-terminal fragment

J Biol Chem. 2005 Jun 10;280(23):22462-72. doi: 10.1074/jbc.M502769200. Epub 2005 Mar 29.

Abstract

The enzyme gamma-secretase is involved in the cleavage of several type I membrane proteins, such as Notch 1 and amyloid precursor protein. Presenilin-1 (PS-1) is one of the critical integral membrane protein components of the gamma-secretase complex and is processed endoproteolytically, generating N- and C-terminal fragments (NTF and CTF, respectively). PS-1 is also known to incorporate into a high molecular weight complex by binding to other gamma-secretase components such as Nicastrin, Aph-1, and Pen-2. Mutations on PS-1 can alter the effects of gamma-secretase on its many substrates to different extents. Here, we showed that PS-1 mutants have a different activity for Notch cleavage, which depended on the PS-1 mutation site. We demonstrated that defective PS-1 mutants located in CTF, i.e. D385A and C410Y, could restore their gamma-secretase activities with the compensatory overexpression of wild type CTF or of minimal deleted CTF (amino acids 349-467). However, the defective PS-1 D257A mutant could not restore their gamma-secretase activities with the compensatory overexpression of wild type NTF. In comparison, both D257A NTF and D385A CTF could abolish the gamma-secretase activity of wild type and pathogenic PS-1 mutants. We also showed that PS-1 NTF but not CTF forms strong high molecular weight aggregates in SDS-PAGE. Taken together, results have shown that NTF and CTF integrate differently into high molecular weight aggregates and that PS-1 Asp-257 and Asp-385 have different accessibilities in their unendoproteolyzed conformation.

MeSH terms

  • Amyloid Precursor Protein Secretases
  • Animals
  • Aspartic Acid Endopeptidases
  • Binding Sites
  • Blotting, Western
  • Cell Line
  • Dose-Response Relationship, Drug
  • Electrophoresis, Polyacrylamide Gel
  • Endopeptidases / metabolism
  • Fibroblasts / metabolism
  • Green Fluorescent Proteins / metabolism
  • Immunoblotting
  • Immunoprecipitation
  • Membrane Glycoproteins / metabolism
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism*
  • Mice
  • Models, Biological
  • Mutation*
  • Plasmids / metabolism
  • Presenilin-1
  • Protein Binding
  • Protein Conformation
  • Protein Structure, Tertiary
  • Receptors, Notch

Substances

  • Membrane Glycoproteins
  • Membrane Proteins
  • Presenilin-1
  • Receptors, Notch
  • nicastrin protein
  • Green Fluorescent Proteins
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • Bace1 protein, mouse