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Related Experiment Videos

Polymorphic GGC repeat differentially regulates human reelin gene expression levels.

A M Persico1, P Levitt, A F Pimenta

  • 1Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, Italy.

Journal of Neural Transmission (Vienna, Austria : 1996)
|April 11, 2006
PubMed
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The Reelin (RELN) gene

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • The Reelin (RELN) gene is crucial for neurodevelopment.
  • A polymorphic GGC repeat in the RELN 5' untranslated region (UTR) is associated with gene expression.
  • Variations in RELN expression are implicated in neurodevelopmental disorders.

Purpose of the Study:

  • To investigate the functional impact of GGC repeat length variation in the RELN 5' UTR on gene expression.
  • To determine if longer GGC repeat alleles in RELN are associated with reduced gene expression.
  • To explore the potential link between altered RELN expression and neurodevelopmental disorders like schizophrenia and autism.

Main Methods:

  • Constructs containing the RELN 5' UTR with varying GGC repeat numbers (4-13 repeats) were transfected into CHO cells with a luciferase reporter gene.

Related Experiment Videos

  • Luciferase activity was measured to assess the effect of GGC repeat length on gene expression.
  • Reporter gene assays were also performed in neuronal cell lines (SN56 and N2A).

    • Main Results:

    • In CHO cells, luciferase activity decreased significantly with increasing GGC repeat numbers in the RELN 5' UTR (P < 0.005).
    • In neuronal cell lines, RELN 5' UTR sequences enhanced reporter gene expression, but alleles with 12-13 repeats showed 50-60% less activity than 8-10 repeat alleles (P < 0.0001).
    • Longer GGC alleles in RELN significantly blunt gene expression.

    Conclusions:

    • The number of GGC repeats in the RELN 5' UTR directly influences Reelin gene expression.
    • Longer GGC repeat alleles in RELN lead to reduced gene expression.
    • This reduced Reelin expression may contribute to vulnerability in human neurodevelopmental disorders such as schizophrenia and autism.