01388-A: Validation of a SNP Haplotype Associated with Mastiff Cystine Stone Formation for Use in Genetic Testing

Grant Status: Closed

Grant Amount: $12,641.89
Paula S. Henthorn, PhD; University of Pennsylvania
April 1, 2010 - December 31, 2010

Sponsor(s): Australian Terrier Club of America, Bearded Collie Club of America, Newfoundland Club of America Charitable Trust, Old English Sheepdog Club of America, Worcester County Kennel Club

Breed(s): Mastiff
Research Program Area: Kidney & Urological Disease
Donate to Support this Research Program Area

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 some dog breeds, cystinuria is an autosomal recessive trait caused by mutations in the SLC3A1 gene. However, in many dog breeds, the genetic basis of cystinuria is much more complex. We recently obtained data suggesting that: 1) that in at least one breed of dogs (Mastiffs), DNA changes near one of the "cystinuria genes" are associated with early cystine stone formation, and 2) that gender and reproductive status may affect the level cystine in the urine. Our most recent study has more precisely defined the region associated with early cystine stone formation in Mastiffs and analyzed DNA polymorphisms from the region in additional dogs. The data generated further supports the finding that polymorphisms near one of the cystinuria genes are associated with high risk of early stone formation. In summary, the studies indicate that it will be possible to develop a DNA-based test for breeders to use to reduce the incidence of particular (but not all) cystinuria predisposing alleles in the Mastiff population and to decrease the incidence of cystine stone formation in the Mastiff breed.


None at this time.

Help Future Generations of Dogs

Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617

Tax ID# 13-3813813


© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.