Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers

American Journal of Veterinary Research

Volumn 71, Issue 8, 2010, Pages 909-914

  Karmi, Nili ^a   Safra, Noa ^a   Young, Amy ^a   Bannasch, Danika L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; DNA; MESSENGER RNA; URIC ACID;

ADULT; ARTICLE; BLOOD SAMPLING; BREED; CONTROLLED STUDY; DISEASE PREDISPOSITION; DOG; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; HYPERURICOSURIA; MICTURITION; NONHUMAN; PYROSEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; STONE FORMATION; URINALYSIS; UROLITHIASIS; VALIDATION PROCESS; ANIMAL; ANIMAL DISEASE; BLOOD; CLASSIFICATION; DOG DISEASE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE DETECTION; HYPERURICEMIA; INCIDENCE; ISOLATION AND PURIFICATION; SPECIES DIFFERENCE; URINE;

ANIMALIA; CANIS FAMILIARIS;

ANIMALS; CREATININE; DNA; DOG DISEASES; DOGS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE DETECTION; HYPERURICEMIA; INCIDENCE; SPECIES SPECIFICITY; URIC ACID; URINARY CALCULI;

EID: 77956840334     PISSN: 00029645     EISSN: None     Source Type: Journal    
DOI: 10.2460/ajvr.71.8.909     Document Type: Article

References (33)

1. Benedict SR. Uric acid in its relations to metabolism. Harvey Lect 1916;11:346-365.
2. Wells HG. The purine metabolism of the Dalmatian coach hound. J Biol Chem 1918;35:221-225.
3. Friedman TB, Polanco GE, Appold JC, et al. On the loss of uricolytic activity during primate evolution - I. Silencing of urate oxidase in a hominoid ancestor. Comp Biochem Physiol B 1985;81:653-659.
4. Oda M, Satta Y, Takenaka O, et al. Loss of urate oxidase activity in hominoids and its evolutionary implications. Mol Biol Evol 2002;19:640-653.
5. Giesecke D, Tiemeyer W. Defect of uric acid uptake in Dalmatian dog liver. Experientia 1984;40:1415-1416.
6. Bannasch D, Safra N, Young A, et al. Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 2008;4:e1000246.
7. Vitart V, Rudan I, Hayward C, et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 2008;40:437-442.
8. Appleman RM, Hallenbeck GA, Shorter RG. Effect of reciprocal allogeneic renal transplantation between Dalmatian and non-Dalmatian dogs on urinary excretion of uric acid. Proc Soc Exp Biol Med 1966;121:1094-1097.
9. Kocken JM, Borel Rinkes IH, Bijma AM, et al. Correction of an inborn error of metabolism by intraportal hepatocyte transplantation in a dog model. Transplantation 1996;62:358-364.
10. Simkin PA. The Dalmatian defect: a hepatic endocrinopathy of urate transport. Arthritis Rheum 2005;52:2257-2262.
11. Caulfield MJ, Munroe PB, O'Neill D, et al. SLC2A9 is a highcapacity urate transporter in humans. PLoS Med 2008;5: e197.
12. Roch-Ramel F, Wong NL, Dirks JH. Renal excretion of urate in mongrel and Dalmatian dogs: a micropuncture study. Am J Physiol 1976;231:326-331.
13. Bannasch DL, Ling GV, Bea J, et al. Inheritance of urinary calculi in the Dalmatian. J Vet Intern Med 2004;18:483-487.
14. Bartges JW, Osborne CA, Lulich JP, et al. Canine urate urolithiasis. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 1999;29:161-191.
15. Schaible RH. Genetic predisposition to purine uroliths in Dalmatian dogs. Vet Clin North Am Small Anim Pract 1986;16:127-131.
16. Sorenson JL, Ling GV. Diagnosis, prevention, and treatment of urate urolithiasis in Dalmatians. J Am Vet Med Assoc 1993;203:863-869. (Pubitemid 23300655)
17. Albasan H, Lulich JP, Osborne CA, et al. Evaluation of the association between sex and risk of forming urate uroliths in Dalmatians. J Am Vet Med Assoc 2005;227:565-569.
18. Bartges JW, Osborne CA, Lulich JP, et al. Prevalence of cystine and urate uroliths in Bulldogs and urate uroliths in Dalmatians. J Am Vet Med Assoc 1994;204:1914-1918.
19. Bende B, Nemeth T. High prevalence of urate urolithiosis in the Russian Black Terrier. Vet Rec 2004;155:239-240.
20. Ling GV, Franti CE, Ruby AL, et al. Urolithiasis in dogs. II: breed prevalence, and interrelations of breed, sex, age, and mineral composition. Am J Vet Res 1998;59:630-642. (Pubitemid 128472397)
21. Tobias KM, Rohrbach BW. Association of breed with the diagnosis of congenital portosystemic shunts in dogs: 2,400 cases (1980-2002). J Am Vet Med Assoc 2003;223:1636-1639.
22. Sorenson JL, Ling GV. Metabolic and genetic aspects of urate urolithiasis in Dalmatians. J Am Vet Med Assoc 1993;203:857-862.
23. Bartges JW, Osborne CA, Felice LJ, et al. Reliability of single urine and serum samples for estimation of 24-hour urinary uric acid excretion in six healthy Beagles. Am J Vet Res 1994;55:472-476.
24. Trimble HC, Keeler CE. The inheritance of "high uric acide excretion" in dogs. J Hered 1938;29:281-289.
25. Safra N, Schaible RH, Bannasch DL. Linkage analysis with an interbreed backcross maps Dalmatian hyperuricosuria to CFA03. Mamm Genome 2006;17:340-345.
26. Kaufman JM, Greene ML, Seegmiller JE. Urine uric acid to creatinine ratio - a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. J Pediatr 1968;73:583-592.
27. Ahmadian A, Ehn M, Hober S. Pyrosequencing: history, biochemistry and future. Clin Chim Acta 2006;363:83-94.
28. Wilcox B, Walkowicz C. Atlas of dog breeds of the world. 5th ed. Neptune City, NJ: TFH Publications, 1995.
29. American Kennel Club website. Dog registration statistics. Available at: www.akc.org/reg/dogreg-stats.cfm. Accessed Apr 17, 2009.
30. da Silva Curiel JM, Pope ER, O'Brien DP, et al. Ammonium urate urolith resulting in hydronephrosis and hydroureter in a dog with a congenital portosystemic shunt. Can Vet J 1990;31:116-117.
31. Gutman AB, Yu TF. Uric acid nephrolithiasis. Am J Med 1968;45:756-779.
32. Keeler CE. The inheritance of predisposition to renal calculi in the Dalmatian. J Am Vet Med Assoc 1940;96:507-510.
33. Neff MW, Robertson KR, Wong AK, et al. Breed distribution and history of canine mdr1 - 1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage. Proc Natl Acad Sci U S A 2004;101:11725-11730.