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00639: Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests

Grant Status: Closed

Grant Amount: $41,558

Dr. Paula S. Henthorn, PhD, University of Pennsylvania

April 1, 2006 - September 30, 2008

Sponsor(s): American Shih Tzu Club, Inc., Bulldog Club of America Charitable Health Fund, Inc., Cardigan Welsh Corgi Club of America, Dr. William Newman, Mastiff Club of America

Breed(s): Bulldog, Bullmastiff, Cardigan Welsh Corgi, Dachshund, German Shorthaired Pointer, Irish Setter, Mastiff, Parson Russell Terrier, Pembroke Welsh Corgi, Saluki, Shih Tzu

Disease(s): Cystinuria

Abstract

Cystinuria is an inherited disorder of amino acid transport in dog, man and other animals and has been documented in over 60 breeds of dog. In humans, mutations in the SLC3A1 and SLC719 genes are found in affected individuals. While human cystinuria was originally thought to be inherited as an autosomal recessive trait, more complex inheritance patterns, and their molecular origins, are currently being elucidated. Based on previous work, which developed tests to detect dystinuric, carrier and normal Newfoundlands and Labrador Retrievers, researchers recently identified a third mutant allele in the SLC3A1 gene that may lead to stone formation when present in only a single copy, and they also hypothesized a more complex etiology for cystinuria in breeds where stone formation occurs later in life. Researchers will focus efforts on experiments that will apply the new information concerning human cystinuria to the canine disease.