Canine PAX6 Gene and Aniridia in Dogs
Author Information
Author(s): Hunter Linda S., Sidjanin Duska J., Hijar Manuel Villagrasa, Johnson Jennifer L., Kirkness Ewen, Acland Gregory M., Aguirre Gustavo D.
Primary Institution: Cornell University
Hypothesis
Canine PAX6 is a candidate gene for inherited aniridia in dogs.
Conclusion
The study found no pathological mutations in the PAX6 gene in dogs with inherited aniridia.
Supporting Evidence
- Canine PAX6 was cloned and characterized, providing sequence information for gaps in the current canine genome.
- PAX6 nucleotide and amino acid sequences were highly conserved between dog, human, and mouse.
- Exon-scanning revealed single nucleotide polymorphisms, but no pathological mutations.
- Southern blot analysis showed no large deletions in the PAX6 gene.
Takeaway
Scientists studied a gene called PAX6 in dogs to see if it causes a condition where they are missing part of their eyes. They found that the gene was similar to humans, but didn't find any harmful changes in it.
Methodology
Canine PAX6 was cloned from a retinal cDNA library, and association testing was performed using genomic DNA from dogs with inherited aniridia.
Limitations
Limited sample size and pedigree information hindered definitive conclusions about the mode of inheritance.
Participant Demographics
The study involved 10 Catalan sheepdogs, including 6 affected and 4 non-affected dogs.
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