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Related Experiment Videos

Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly

S Qu1, S C Tucker, J S Ehrlich

  • 1Departments of Biochemistry and Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

Development (Cambridge, England)
|June 24, 1998
PubMed
Summary

Mutations in the Alx4 gene cause polydactyly by disrupting limb patterning. This gene normally restricts sonic hedgehog (Shh) expression to the posterior of limb buds, and its loss leads to extra anterior digits.

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Area of Science:

  • Developmental biology
  • Evolutionary biology
  • Genetics

Background:

  • Limb development relies on signaling centers like the zone of polarizing activity (ZPA) for axis patterning.
  • The ZPA expresses sonic hedgehog (Shh) and its precise localization is crucial for normal limb formation.
  • The mechanisms restricting ZPA and Shh expression to the posterior limb bud are not fully understood.

Purpose of the Study:

  • To identify the gene responsible for the Strong's luxoid (lst) mouse mutation, which causes polydactyly due to ectopic anterior ZPA and Shh expression.
  • To investigate the role of the candidate gene in limb patterning and the development of extra anterior digits.

Main Methods:

  • Characterization of a new chlorambucil-induced deletion allele (lstAlb) to uncover the lst locus.

Related Experiment Videos

  • Genetic mapping and complementation tests between lst alleles and an Alx4 gene-targeted allele.
  • Molecular and biochemical analysis of lst alleles to identify mutations in the Alx4 gene.

    • Main Results:

    • The Strong's luxoid (lst) gene was identified as the mouse Aristaless-like4 (Alx4) gene.
    • Three lst mutant alleles represent loss-of-function mutations in Alx4.
    • Alx4 haploinsufficiency is sufficient to cause polydactyly, indicating a critical threshold for Alx4 function.

    Conclusions:

    • Alx4 plays a crucial role in restricting polarizing activity and Shh expression to the anterior limb bud mesenchyme.
    • Mutations in Alx4 underlie the Strong's luxoid polydactyly phenotype.
    • Alx4 mutations may also be a cause of human polydactyly.