SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria
| Autor: | Peter Söderkvist, Lotta Harnevik, Astrid Hoppe |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
DNA Complementary DNA Mutational Analysis Molecular Sequence Data Cystine Biology medicine.disease_cause chemistry.chemical_compound Dogs Genetics medicine Animals Amino acid transporter Dog Diseases Cloning Molecular Gene Mutation Cystinuria Genetic disorder medicine.disease Molecular biology chemistry Tiopronin Mutation testing Amino Acid Transport Systems Basic medicine.drug |
| Zdroj: | Mammalian genome : official journal of the International Mammalian Genome Society. 17(7) |
| ISSN: | 0938-8990 |
| Popis: | Cystinuria is a genetic disorder in the domestic dog that leads to recurrent urolith formation. The genetic basis of the disorder is best characterized in humans and is caused by mutations in one of the amino acid transporter genes SLC3A1 or SLC7A9, which results in hyperexcretion of cystine and the dibasic amino acids in the urine and subsequent precipitation of cystine due to its low solubility in urine. In this study we describe the cloning of the canine SLC7A9 cDNA and present a thorough mutation analysis of the coding SLC3A1 and SLC7A9 regions in cystinuric dogs of different breeds. Mutation analysis of the two cystinuria disease genes revealed one SLC7A9 mutation (A217T) and two SLC3A1 mutations (I192V and S698G) in French and English Bulldogs that affect nonconserved amino acid residues, arguing against functional impact on the proteins. The absence of deleterious mutations linked to cystinuria in the remainder of our panel of cystinuric dogs is surprising because SLC3A1 or SLC7A9 mutations explain approximately 70% of all human cystinuria cases studied. The present study, along with previous investigations of canine and human cystinuria, implies that regulatory parts of the SLC3A1 and SLC7A9 genes as well as other unknown genes may harbor mutations causing cystinuria. |
| Databáze: | OpenAIRE |
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