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The molecular basis of the sparse fur mouse mutation
Science (New York, N.Y.)
|July 24, 1987
Summary
Researchers identified a specific genetic mutation in the sparse fur mouse model, which mimics a common human urea cycle disorder. This finding pinpoints a C to A transversion in the ornithine transcarbamylase gene, altering a key amino acid.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- The sparse fur mouse is a valuable model for studying ornithine transcarbamylase deficiency, a prevalent urea cycle disorder in humans.
- Previous biochemical and enzymological studies characterized the mutation, but its precise molecular nature remained elusive.
Purpose of the Study:
- To identify the exact molecular basis of the ornithine transcarbamylase mutation in the sparse fur mouse.
- To demonstrate a simpler and more efficient method for detecting mutations in complementary DNA.
Main Methods:
- Utilized a combination of two recently developed rapid mutational analysis techniques.
- Focused on analyzing the complementary DNA for ornithine transcarbamylase in the sparse fur mouse model.
Main Results:
- A single base substitution, specifically a C to A transversion, was identified in the ornithine transcarbamylase gene.
- This transversion results in the alteration of histidine to asparagine at amino acid position 117.
Conclusions:
- The precise genetic defect in the sparse fur mouse model has been identified.
- The identified mutation provides a clearer understanding of this common urea cycle disorder and offers a simpler mutational analysis strategy.