ArticleMammalian genome : official journal of the International Mammalian Genome Society2006
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 21 citations in OpenAlex.
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?Animals : an open access journal from MDPI · 2021Review
- An experimental model for calcium carbonate urolithiasis in goats.Journal of veterinary internal medicine · 2018Article
- Stones in cats and dogs: What can be learnt from them?Arab journal of urology · 2012Review
- SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.Journal of veterinary internal medicineArticle
- Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths.Journal of veterinary internal medicineArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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