Gene dosage effect on gamma-secretase component Aph-1b in a rat model for neurodevelopmental disorders

Neuron. 2005 Feb 17;45(4):497-503. doi: 10.1016/j.neuron.2004.12.054.

Abstract

A combination of genetic factors and early life events is thought to determine the vulnerability of an individual to develop a complex neurodevelopmental disorder like schizophrenia. Pharmacogenetically selected, apomorphine-susceptible Wistar rats (APO-SUS) display a number of behavioral and pathophysiological features reminiscent of such disorders. Here, we report microarray analyses revealing in APO-SUS rats, relative to their counterpart APO-UNSUS rats, a reduced expression of Aph-1b, a component of the gamma-secretase enzyme complex that is involved in multiple (neuro)developmental signaling pathways. The reduced expression is due to a duplicon-based genomic rearrangement event resulting in an Aph-1b dosage imbalance. The expression levels of the other gamma-secretase components were not affected. However, gamma-secretase cleavage activity was significantly changed, and the APO-SUS/-UNSUS Aph-1b genotypes segregated with a number of behavioral phenotypes. Thus, a subtle imbalance in the expression of a single, developmentally important protein may be sufficient to cause a complex phenotype.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Precursor Protein Secretases
  • Analysis of Variance
  • Animals
  • Apomorphine
  • Aspartic Acid Endopeptidases
  • Base Sequence
  • Behavior, Animal
  • Blotting, Northern / methods
  • Blotting, Western / methods
  • Disease Models, Animal
  • Endopeptidases / chemistry
  • Endopeptidases / genetics*
  • Exons
  • Gene Dosage*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Membrane Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis / methods
  • Peptide Hydrolases
  • Phenotype
  • RNA, Messenger / biosynthesis
  • Rats
  • Rats, Wistar
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Schizophrenia / chemically induced
  • Schizophrenia / genetics*
  • Schizophrenia / metabolism
  • Species Specificity
  • Stereotyped Behavior / drug effects

Substances

  • Membrane Proteins
  • RNA, Messenger
  • APH1B protein, human
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Peptide Hydrolases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human
  • Apomorphine