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Gli3 expression is affected in the morphogenetic mouse mutants add and Xt
T Schimmang1, F van der Hoeven, U Rüther
1European Molecular Biology Laboratory, Heidelberg, Germany.
Progress in Clinical and Biological Research
|January 1, 1993
Summary
The recessive add and dominant extra-toes (Xt) mutations, affecting limb development, are likely alleles of the Gli3 gene. Both mutations reduce Gli3 RNA levels, suggesting a shared genetic basis for their similar effects.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Limb morphogenesis is a complex process regulated by specific genes.
- Mutations affecting limb development can provide insights into gene function.
- The recessive mutation add and dominant extra-toes (Xt) mutations exhibit similar phenotypes in limb development.
Purpose of the Study:
- To investigate the genetic relationship between the add and Xt mutations.
- To determine if add and Xt mutations affect the same gene.
- To elucidate the role of the Gli3 gene in limb morphogenesis.
Main Methods:
- Positional cloning to map the transgene insertion site in add mutants.
- Analysis of Gli3 gene sequences in Xt mutants.
- Quantitative analysis of Gli3 RNA expression levels in add and Xt mice.
Main Results:
- The transgene insertion in add mutants was mapped near the 5' end of the Gli3 gene.
- 5' sequences of the Gli3 gene were found to be deleted in Xt mutants.
- Both add and Xt mutations resulted in a significant reduction of Gli3 RNA levels.
Conclusions:
- The add and Xt mutations are likely allelic, meaning they affect the same gene.
- The Gli3 gene plays a crucial role in mammalian limb morphogenesis.
- These findings highlight the importance of Gli3 in regulating gene expression during limb development.