1946: Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests

Grant Status: Closed

Grant Amount: $103,317
Paula S. Henthorn, PhD; University of Pennsylvania
December 4, 2000 - December 3, 2002

Sponsor(s): American Belgian Tervuren Club, Inc., Belgian Sheepdog Club of America, Inc.

Breed(s): Mastiff
Research Program Area: Kidney & Urological Disease
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Cystinuria is an inherited disease that affects the transport of amino acids, the protein building blocks, across the membranes of cells. In the disease cystinuria, the effects of improper transport particularly affect the kidney and urinary tract where the amino acid cystine precipitates to form bladder and kidney stones that can cause life-threatening complications. Cystinuria has been well-documented in dogs and humans, where it is inherited in a recessive fashion. Consequently, the defective gene can be passed to offspring by asymptomatic carriers of the disease. Two different genes are known to cause cystinuria in humans. Our previous studies determined that a specific mutation in one of these genes is responsible for cystinuria in Newfoundland dogs and allowed us to develop an accurate DNA test to identify the asymptomatic carriers of the disease so that informed breeding decisions can be made. We propose to continue our studies in other breeds of dogs known to be affected with cystinuria (primarily Mastiffs and English Bulldogs). In these studies, we will characterize the clinical, biochemical, and genetic aspects of the disease, including the examination of both genes that cause the disease in humans, with the goal of developing additional tests that will allow the elimination of cystinuria from a particular breed.


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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