A nine-transmembrane domain topology for presenilin 1

J Biol Chem. 2005 Oct 21;280(42):35352-60. doi: 10.1074/jbc.M507217200. Epub 2005 Jul 25.

Abstract

Presenilin (PS) provides the catalytic core of the gamma-secretase complex. Gamma-secretase activity leads to generation of the amyloid beta-peptide, a key event implicated in the pathogenesis of Alzheimer disease. PS has ten hydrophobic regions, which can all theoretically form membrane-spanning domains. Various topology models have been proposed, and the prevalent view holds that PS has an eight-transmembrane (TM) domain organization; however, the precise topology has not been unequivocally determined. Previous topological studies are based on non-functional truncated variants of PS proteins fused to reporter domains, or immunocytochemical staining. In this study, we used a more subtle N-linked glycosylation scanning approach, which allowed us to assess the topology of functional PS1 molecules. Glycosylation acceptor sequences were introduced into full-length human PS1, and the results showed that the first hydrophilic loop is oriented toward the lumen of the endoplasmic reticulum, whereas the N terminus and large hydrophilic loop are in the cytosol. Although this is in accordance with most current models, our data unexpectedly revealed that the C terminus localized to the luminal side of the endoplasmic reticulum. Additional studies on the glycosylation pattern after TM domain deletions, combined with computer-based TM protein topology predictions and biotinylation assays of different PS1 mutants, led us to conclude that PS1 has nine TM domains and that the C terminus locates to the lumen/extracellular space.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amyloid Precursor Protein Secretases
  • Animals
  • Aspartic Acid Endopeptidases
  • Binding Sites
  • Biotinylation
  • Cell Membrane / metabolism*
  • Cytosol / chemistry
  • Cytosol / metabolism
  • Endopeptidases / chemistry
  • Endoplasmic Reticulum / metabolism
  • Extracellular Matrix / metabolism
  • Gene Deletion
  • Genes, Reporter
  • Glycoside Hydrolases / pharmacology
  • Glycosylation
  • Humans
  • Immunoblotting
  • Immunohistochemistry
  • Immunoprecipitation
  • Luciferases / metabolism
  • Membrane Proteins / chemistry*
  • Mice
  • Molecular Sequence Data
  • Presenilin-1
  • Protein Binding
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid
  • Streptavidin / chemistry

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1
  • Streptavidin
  • Luciferases
  • Glycoside Hydrolases
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human
  • Bace1 protein, mouse