Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog
2008

Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog

Sample size: 247 publication 10 minutes Evidence: high

Author Information

Author(s): Bannasch Danika, Safra Noa, Young Amy, Karmi Nili, Schaible R. S., Ling G. V., Barsh Gregory S.

Primary Institution: University of California Davis

Hypothesis

What genetic mutations in the SLC2A9 gene lead to hyperuricosuria and hyperuricemia in Dalmatians?

Conclusion

The study identifies mutations in the SLC2A9 gene as the cause of hyperuricosuria and hyperuricemia in Dalmatians, which also appear in other dog breeds.

Supporting Evidence

  • All Dalmatians are homozygous for the hyperuricosuria trait.
  • The SLC2A9 gene was identified as the causative factor for uric acid transport defects.
  • Similar mutations were found in other dog breeds with hyperuricosuria.

Takeaway

Dalmatians have a genetic change that makes them unable to properly handle uric acid, leading to health issues. This change is also found in some other dog breeds.

Methodology

The researchers used linkage mapping and positional cloning to identify the genetic mutations in the SLC2A9 gene.

Limitations

The study primarily focuses on Dalmatians and may not fully represent other breeds with similar conditions.

Participant Demographics

The study involved Dalmatians and other dog breeds with hyperuricosuria.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1000246

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