POSTER ABSTRACTS
using microarray technologies. Using a subset of neutered, unrelated individuals, we performed a genome-wide association study (47 cases vs. 25 controls). We identified a single region of associ- ation on chromosome 32 (P = 5.8x 10^-9) and used pairwise linkage disequilibrium analysis (r^2 > 0.5) with the lead SNP to define a candidate interval of 600kb with no protein coding genes. Further analysis of this region is currently underway. A better understanding of the genetic background of Addison’s disease would facilitate earlier disease recognition, preventative breeding strategies, and improved therapies.
#14 Genomic analysis of a family of Labrador retrievers with an inherited movement disorder
Emily C. Graff1,2 , Isaac McNeely1, Tom Jukier3, and Nancy Merner1 ecg0001@auburn.edu
1Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL USA, 2Scott-Ritchey Research Center, Auburn University College of Veterinary Medicine, Auburn, AL USA, 3Department of Clinical Sciences, Auburn University College of Veterinary Medicine, Auburn, AL USA Inherited movement disorders, such as paroxysmal dyskinesia (PD), are underdiagnosed and debilitating diseases in dogs and humans. PD is a rare movement disorder defined by episodic, involuntary motor dysfunction that is initiated by external events such as excitement or exercise. In humans and dogs there are several known genetic causes of PD. However, in both species, there are individuals that exhibit a familial PD phenotype and do not have any of the currently known genetic variants, indicating additional genes are yet to be discovered. Recently, we identi- fied a family of Labrador retrievers with an inherited movement disorder affecting two male dogs. Episodes were first noted at 2-3 months of age, last 20-30 seconds, and involve tightening of the trunk muscles with an arched back and stiff legs that disrupt their posture and gait. Episodes occur following an exciting event such as a trip to the dog park. None of the previously described variants for movement disorders in dogs were identified in the affected dogs. Preliminary analysis of whole genome sequencing data of the two affected male animals, the sire, and the dam have revealed several variants of interest including one in SCL2A1, a gene with several different variants that cause PD in humans, and one in ARX, a gene that is linked to several neurodevelopmental disorders. Additional analysis is needed to refine the list of candidate variants. Identification of a genetic contribution of PD in the dog could expand our understanding of inherited movement disorders in dogs and humans.
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