934: Investigation of Inherited Diseases of the German Shepherd Dog Using the SNP Array

Grant Status: Closed

Grant Amount: $139,775
Leigh Anne Clark, PhD; Texas A&M University
May 1, 2008 - October 31, 2010

Sponsor(s): American Miniature Schnauzer Club, Inc., American Shih Tzu Club, Inc., Havana Silk Dog Association of America, Papillon Club of America, Pug Dog Club of America, Inc., Yorkshire Terrier Club of America, Yorkshire Terrier Club of America Foundation, Inc.

Breed(s): German Shepherd Dog
Research Program Area: Neurology
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Project Summary

The German Shepherd Dog (GSD) is a very popular pet in the United States (third most registered breed in 2006). According to the Canine Inherited Disorders Database, the breed is afflicted with approximately 50 hereditary disorders, including degenerative myelopathy (DM), pancreatic acinar atrophy (PAA), and megaesophagus (ME). These diseases disrupt the quality of life for both dog and owner. There are no means to identify carrier or affected dogs before the onset of clinical signs, making it difficult to eliminate these diseases from the breed. The experiments for this project were designed to scan the entire genome for markers associated with several disease traits simultaneously. The three diseases focused on in this study were pancreatic acinar atrophy (PAA), megaesophagus (ME), and degenerative myelopathy (DM). An array containing over 127,000 single nucleotide polymorphisms (SNPs) was probed with 153 DNA samples from either healthy German Shepherds (GSDs) or those affected with PAA, ME or DM. Results for DM confirm a mutation recently described by another research group on chromosome 31 (SOD1), and identified a new location that may harbor a modifier mutation. ME results indicate that the disease is not inherited in an autosomal recessive fashion. A region on chromosome 12 may harbor mutations contributing to ME, but requires further investigation. Results for PAA highlight the extreme complexity of the disease. A region on chromosome 12 near the canine major histocompatibility complex appears to be associated with the disease and is currently the focus of another study.


Tsai, K. L., Noorai, R. E., Starr-Moss, A. N., Quignon, P., Rinz, C. J., Ostrander, E. A., … Clark, L. A. (2012). Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mammalian Genome, 23(1–2), 203–211. https://doi.org/10.1007/s00335-011-9376-9

Tsai, K. L., Starr-Moss, A. N., Venkataraman, G. M., Robinson, C., Kennedy, L. J., Steiner, J. M., & Clark, L. A. (2013). Alleles of the major histocompatibility complex play a role in the pathogenesis of pancreatic acinar atrophy in dogs. Immunogenetics, 65(7), 501–509. https://doi.org/10.1007/s00251-013-0704-y

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