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Related Experiment Videos

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung

Tiffany A Heanue1, Vassilis Pachnis

  • 1Division of Molecular Neurobiology, National Institute for Medical Research, Medical Research Council, The Ridgeway, Mill Hill, London NW7 1AA, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America
|April 25, 2006
PubMed
Summary

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Researchers identified hundreds of enteric nervous system (ENS) genes using Ret mutant mice. Two identified genes, Arhgef3 and Ctnnal1, are potential candidates for Hirschsprung disease (HSCR).

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • The enteric nervous system (ENS) controls gut functions and its development is crucial.
  • Ret receptor tyrosine kinase is essential for ENS development, and its mutations cause Hirschsprung disease (HSCR).
  • Ret mutant mice serve as a model to identify genes involved in ENS development.

Purpose of the Study:

  • To identify novel genes expressed in the enteric nervous system (ENS).
  • To investigate the role of these genes in ENS development.
  • To identify potential genetic candidates for Hirschsprung disease (HSCR).

Main Methods:

  • Differential gene expression screening using RNA from wild-type (WT) and Ret mutant mouse gut tissue.
  • DNA microarrays were employed to analyze gene expression profiles.

Related Experiment Videos

  • Quantitative analysis of 47 selected candidate ENS-expressed genes.

    • Main Results:

    • Hundreds of candidate ENS-expressed genes were identified.
    • All 47 analyzed genes were confirmed to be expressed in the ENS.
    • The screen successfully identified genes expressed in specific ENS cell subpopulations.
    • Arhgef3 and Ctnnal1 were identified as potential HSCR candidate genes due to their human homologues mapping to HSCR loci.

    Conclusions:

    • The study provides a comprehensive profile of ENS gene expression.
    • The identified genes offer valuable resources for future research in ENS development and related disorders.
    • Arhgef3 and Ctnnal1 represent promising candidates for further investigation into the genetic basis of Hirschsprung disease.