Functional domains in presenilin 1: the Tyr-288 residue controls gamma-secretase activity and endoproteolysis

J Biol Chem. 2004 Jun 4;279(23):23925-32. doi: 10.1074/jbc.M401277200. Epub 2004 Mar 29.

Abstract

Processing of the Alzheimer amyloid precursor protein (APP) into the amyloid beta-protein and the APP intracellular domain is a proteolysis event mediated by the gamma-secretase complex where presenilin (PS) proteins are key constituents. PS is subjected to an endoproteolytic cleavage, generating a stable heterodimer composed of an N-terminal and a C-terminal fragment. Here we aimed at further understanding the role of PS in endoproteolysis, in proteolytic processing of APP and Notch, and in assembly of the gamma-secretase complex. By using a truncation protocol and alanine scanning, we identified Tyr-288 in the PS1 N-terminal fragment as critical for PS-dependent intramembrane proteolysis. Further mutagenesis of the 288 site identified mutants differentially affecting endoproteolysis and gamma-secretase activity. The Y288F mutant was endoproteolyzed to the same extent as wild type PS but increased the amyloid beta-protein 42/40 ratio by approximately 75%. In contrast, the Y288N mutant was also endoproteolytically processed but was inactive in reconstituting gamma-secretase in PS null cells. The Y288D mutant was deficient in both endoproteolysis and gamma-secretase activity. All three mutant PS1 molecules were incorporated into gamma-secretase complexes and stabilized Pen-2 in PS null cells. Thus, mutations at Tyr-288 do not affect gamma-secretase complex assembly but can differentially control endoproteolysis and gamma-secretase activity.

Publication types

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

MeSH terms

  • Alanine / chemistry
  • Amino Acid Sequence
  • Amyloid Precursor Protein Secretases
  • Animals
  • Aspartic Acid Endopeptidases
  • Cells, Cultured
  • Embryo, Mammalian / cytology
  • Endopeptidases / metabolism*
  • Enzyme-Linked Immunosorbent Assay
  • Genes, Reporter
  • Immunoblotting
  • Luciferases / metabolism
  • Membrane Proteins / chemistry*
  • Mice
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation
  • Precipitin Tests
  • Presenilin-1
  • Protein Structure, Tertiary
  • Stem Cells / cytology
  • Subcellular Fractions
  • Transfection
  • Tyrosine / chemistry*

Substances

  • Membrane Proteins
  • Presenilin-1
  • Tyrosine
  • Luciferases
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • Bace1 protein, mouse
  • Alanine