Human Genetics

, Volume 107, Issue 4, pp 295–303

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

  • Paula Henthorn
  • Junlong Liu
  • Tanya Gidalevich
  • Jikang Fang
  • Margret Casal
  • Donald Patterson
  • Urs Giger
Original Investigation

DOI: 10.1007/s004390000392

Cite this article as:
Henthorn, P., Liu, J., Gidalevich, T. et al. Hum Genet (2000) 107: 295. doi:10.1007/s004390000392

Abstract.

Cystinuria is an inherited renal and intestinal disease characterized by defective amino acid reabsorption and cystine urolithiasis. Different forms of the disease, designated type I and non-type I in cystinuric humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3A1 (rBAT) and SLC7A9 genes, respectively. Type I cystinuria is the most common form and is inherited as an autosomal recessive trait in humans. Cystinuria has been recognized in more than 60 breeds of dogs and a severe form, resembling type I cystinuria, has been characterized in the Newfoundland breed. Here we report the cloning and sequencing of the canine SLC3A1 cDNA and gene, and the identification of a nonsense mutation in exon 2 of the gene in cystinuric Newfoundland dogs. A mutation-specific test was developed for the diagnosis and control of cystinuria in Newfoundland dogs. In cystinuric dogs of six other breeds, either heterozygosity at the SLC3A1 locus or lack of mutations in the coding region of the SLC3A1 gene were observed, indicating that cystinuria is genetically heterogeneous in dogs, as it is in humans. The canine homologue of human type I cystinuria provides the opportunity to use a large animal model to investigate molecular approaches for the treatment of cystinuria and other renal tubular diseases.

Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Paula Henthorn
    • 1
  • Junlong Liu
    • 1
  • Tanya Gidalevich
    • 1
  • Jikang Fang
    • 1
  • Margret Casal
    • 1
  • Donald Patterson
    • 1
  • Urs Giger
    • 1
  1. 1.Section of Medical Genetics and Center for Comparative Medical Genetics, Laboratory of Biochemistry University of Pennsylvania School of Veterinary Medicine, Philadelphia, Pennsylvania, USA
  2. 2.University of Pennsylvania School of Veterinary Medicine, 3900 Delancey St., Philadelphia, PA 19104–6010, USA

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