Mutation in SLC4A3 Linked to Retinal Degeneration in Golden Retrievers
Author Information
Author(s): Downs Louise M., Wallin-Håkansson Berit, Boursnell Mike, Marklund Stefan, Hedhammar Åke, Truvé Katarina, Hübinette Louise, Lindblad-Toh Kerstin, Bergström Tomas, Mellersh Cathryn S.
Primary Institution: Canine Genetics, Animal Health Trust, Newmarket, United Kingdom
Hypothesis
Is a frameshift mutation in the SLC4A3 gene responsible for progressive retinal atrophy in Golden Retrievers?
Conclusion
The study identifies a frameshift mutation in the SLC4A3 gene as a significant cause of progressive retinal atrophy in Golden Retrievers.
Supporting Evidence
- The mutation was found in 56% of PRA cases and 87% of obligate carriers.
- Genome-wide association analysis revealed a significant association on chromosome 37.
- Allele frequencies for the mutation were approximately 4% in the UK and 6% in Sweden.
Takeaway
Some Golden Retrievers go blind because of a gene mutation that affects their eyes, similar to a condition that can happen in people.
Methodology
Genome-wide association study with 27 PRA cases and 19 controls, followed by mutation screening in 945 Golden Retrievers.
Limitations
A large proportion of PRA cases remain unexplained, indicating genetic heterogeneity.
Participant Demographics
Golden Retrievers from the UK, Sweden, France, and the USA.
Statistical Information
P-Value
p=6.9×10−7
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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