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Related Experiment Videos

Sonic hedgehog: restricted expression and limb dysmorphologies.

Robert E Hill1, Simon J H Heaney, Laura A Lettice

  • 1MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK. Bob.Hill@hgu.mrc.ac.uk

Journal of Anatomy
|February 18, 2003
PubMed
Summary

Sonic hedgehog (SHH) signaling is crucial for limb development, controlling digit patterning. Disruptions in SHH expression, like in the sasquatch mouse mutant, lead to limb malformations, modeling human pre-axial polydactyly.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • Sonic hedgehog (SHH) is essential for limb skeletal patterning, including finger and toe formation.
  • SHH acts through localized, asymmetric expression in the zone of polarizing activity (ZPA) of the limb bud.
  • Understanding SHH's mechanism is key to deciphering limb development and malformations.

Purpose of the Study:

  • To investigate the role of SHH expression in limb patterning.
  • To analyze mouse mutants with polydactyly as models for human limb dysmorphologies.
  • To explore the genetic basis of pre-axial polydactyly (PPD) and related conditions.

Main Methods:

  • Analysis of mouse mutants with altered Shh expression patterns.
  • Genetic mapping of the sasquatch (Ssq) mutation to a region near the Shh gene.

Related Experiment Videos

  • Comparative analysis of mouse models and human congenital limb abnormalities.

    • Main Results:

    • Polydactyly in mice results from ectopic Shh expression in the anterior limb margin, disrupting normal patterning.
    • The Ssq mutation disrupts a long-range cis-acting regulator of Shh, located 1 Mb from the Shh gene.
    • Human pre-axial polydactyly is inferred to result from similar disruptions in SHH regulation.

    Conclusions:

    • Asymmetric SHH expression is critical for normal limb patterning; its disruption causes polydactyly.
    • The Ssq mouse mutant provides a model for human PPD, implicating cis-regulatory elements in SHH control.
    • A specific chromosomal region near PPD may harbor genes involved in various limb dysmorphologies.