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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Sep 23, 2025

Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species
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Generation, Purification, and Characterization of Cell-invasive DISC1 Protein Species

Published on: August 30, 2012

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Polysialylation in a DISC1 Mutant Mouse.

Yuka Takahashi1,2, Chikara Abe1,2, Masaya Hane1,2,3

  • 1Bioscience and Biotechnology Center, Nagoya University, Chikusa, Nagoya 464-8601, Japan.

International Journal of Molecular Sciences
|May 14, 2022
PubMed
Summary
This summary is machine-generated.

Genetic and environmental factors influence schizophrenia. This study found altered polysialylation in DISC1-mutant mice under stress, suggesting a link between genetic vulnerability and stress response in psychiatric disorders.

Keywords:
DISC1NCAMacute stressenvironmental factorgenetic factormental disorderpolysialic acidpolysialyltransferaseschizophreniatail suspension test

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Schizophrenia is a complex psychiatric disorder influenced by genetic and environmental factors.
  • Polysialylation, a protein modification, and its role in neural cell adhesion molecules (NCAMs) are implicated in psychiatric disorders.
  • Disrupted-in-schizophrenia 1 (DISC1) gene mutations are linked to schizophrenia risk.

Purpose of the Study:

  • To investigate the gene-environment (G × E) interaction on polysialylated NCAM expression.
  • To analyze the effects of acute stress on polysialylation in a DISC1-mutant mouse model of schizophrenia.

Main Methods:

  • Precise measurements of polysialic acid (polySia) and NCAM in specific brain regions of DISC1-mutant and wild-type (WT) mice.
  • Exposure of mice to acute stress conditions to model environmental factors.
  • Comparative analysis of polySia and NCAM expression patterns across five brain regions.

Main Results:

  • DISC1-mutant mice exhibited a lower number and smaller length of polySia in the suprachiasmatic nucleus compared to WT mice.
  • The response patterns of polySia and NCAM to acute stress differed between DISC1 mutants and WT mice across various brain regions.
  • Observed regional differences in stress response suggest potential stress vulnerability in DISC1 mutants.

Conclusions:

  • The study provides novel insights into the G × E effects on polysialylated NCAM expression in a schizophrenia mouse model.
  • Altered polysialylation in DISC1 mutants under stress may contribute to the pathophysiology of schizophrenia.
  • These findings highlight the importance of polysialylation in neural plasticity and stress-related psychiatric disorders.