919: Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests

Grant Status: Closed

Grant Amount: $48,924
Paula S. Henthorn, PhD; University of Pennsylvania
July 1, 2008 - December 31, 2009


Breed(s): Pembroke Welsh Corgi, Australian Cattle Dog, Parson Russell Terrier, Chihuahua, Saluki, Irish Setter, Mastiff, Irish Terrier, Bulldog, Shih Tzu, Basset Hound, German Shorthaired Pointer, Basenji, Bullmastiff, Cardigan Welsh Corgi, Dachshund
Research Program Area: Kidney & Urological Disease
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Project Summary

Cystinuria is an inherited disorder that causes kidney and urinary tract stones in dog, man and other animals and has been documented in over 60 breeds of dogs. In humans, mutations in the protein-coding regions of two genes (named SLC3A1 and SLC7A9) are found in affected individuals. In humans, cystinuria is primarily inherited as an autosomal recessive trait, with some instances of somewhat more complex inheritance patterns. In many dog breeds, cystinuria appears much more complex. While our data rules out simple autosomal recessive inheritance of mutations changing the proteins produced by SLC3A1 or SLC7A9, our most recent data suggests that in at least one breed of dogs (Mastiffs), DNA changes near one of these genes are associated with cystine stone formation. There is also evidence that gender and reproductive status may affect the level cystine in the urine. Taken together and if confirmed in a more comprehensive study, this most recent data suggests approaches that can be used to reduce the incidence of cystine stone formation in the Mastiff breed. Additional studies can be pursued to determine if the conclusions reached in Mastiffs can be extended to other breeds, and may help identify the underlying biological processes leading to cystine stone formation in several dog breeds.


Bannasch, D., & Henthorn, P. S. (2009). Changing Paradigms in Diagnosis of Inherited Defects Associated with Urolithiasis. Veterinary Clinics of North America: Small Animal Practice, 39(1), 111–125. https://doi.org/10.1016/j.cvsm.2008.09.006

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