01083-A: Exfoliative Cutaneous Lupus Erythematosus (Lupoid Dermatosis) in the German Shorthaired Pointer

Project Summary

Great progress has been made in discovering the genes responsible for exfoliative cutaneous lupus erythematosus using the SNP analysis approach. SNPs are small (single base pair) changes in the DNA that may vary from dog to dog or from breed to breed. They can serve as crude markers for areas of interest on the genome, as specific markers may be present in dogs with disease. A total of 64,987 SNPs were evaluated for each dog and compared to the others. The highest supported signal was observed on one specific chromosome. Since it was previously established that the disease is inherited in an autosomal recessive pattern, it made it easier to manually screen the area of interest for other SNPs that are the same in all affected dogs but different in clinically normal dogs. This led the project to specifically look at a region containing 5 different genes that are being sequenced to look for mutations. The project found a potential marker in the process of looking at the genes in this area. Approximately 50 more normal dogs will be tested to verify the usefulness of this marker so that owners can make informed breeding decisions.

Publication(s)

Mauldin, E. A., Morris, D. O., Brown, D. C., & Casal, M. L. (2010). Exfoliative cutaneous lupus erythematosus in German Shorthaired Pointer dogs: disease development, progression and evaluation of three immunomodulatory drugs (ciclosporin, hydroxychloroquine, and adalimumab) in a controlled environment. Veterinary Dermatology. 2010;21(4):373-382. doi:10.1111/j.1365-3164.2010.00867.x.

Wang, P., Zangerl, B., Werner, P., Mauldin, E. A., & Casal, M. L. (2011). Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Immunogenetics. 2011;63(4):197-207. doi:10.1007/s00251-010-0499-z.