Letter abstract


Nature Genetics 40, 1235 - 1239 (2008)
Published online: 21 September 2008 | doi:10.1038/ng.224

A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse

Edward E Patterson1, Katie M Minor2, Anna V Tchernatynskaia1, Susan M Taylor3, G Diane Shelton4, Kari J Ekenstedt5 & James R Mickelson2

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Labrador retrievers are the most common dog breed in the world, with over 200,000 new kennel club registrations per year. The syndrome of exercise-induced collapse (EIC) in this breed is manifested by muscle weakness, incoordination and life-threatening collapse after intense exercise. Using a genome-wide microsatellite marker scan for linkage in pedigrees, we mapped the EIC locus to canine chromosome 9. We then used SNP association and haplotype analysis to fine map the locus, and identified a mutation in the dynamin 1 gene (DNM1) that causes an R256L substitution in a highly conserved region of the protein. This first documented mammalian DNM1 mutation is present at a high frequency in the breed and is a compelling candidate causal mutation for EIC, as the dynamin 1 protein has an essential role in neurotransmission and synaptic vesicle endocytosis.

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  1. Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, Minnesota 55108, USA.
  2. Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, Minnesota 55108, USA.
  3. Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon, Saskatchewan S7N5B4, Canada.
  4. Comparative Neuromuscular Laboratory, Department of Pathology, University of California San Diego, La Jolla, California 92093, USA.
  5. Department of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St. Paul, Minnesota 55108, USA.

Correspondence to: Edward E Patterson1 e-mail: patte037@umn.edu




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