Document Detail

A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse.
MedLine Citation:
PMID:  18806795     Owner:  NLM     Status:  MEDLINE    
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.
Edward E Patterson; Katie M Minor; Anna V Tchernatynskaia; Susan M Taylor; G Diane Shelton; Kari J Ekenstedt; James R Mickelson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-09-21
Journal Detail:
Title:  Nature genetics     Volume:  40     ISSN:  1546-1718     ISO Abbreviation:  Nat. Genet.     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-26     Completed Date:  2008-10-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1235-9     Citation Subset:  IM    
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St Paul, Minnesota 55108, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/EU682271;  EU707921;  EU707922;  EU707923;  EU707924; RefSeq/NP_001005360
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MeSH Terms
Amino Acid Sequence
Chromosome Mapping
Chromosomes, Mammalian / genetics
Dog Diseases / genetics*,  pathology
Dynamin I / genetics*
Linkage (Genetics)
Microsatellite Repeats
Molecular Sequence Data
Muscle Weakness / genetics,  physiopathology,  veterinary*
Mutation / genetics*
Physical Conditioning, Animal
Polymorphism, Single Nucleotide*
Sequence Homology, Amino Acid
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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