Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia

Am J Vet Res. 2004 Nov;65(11):1573-9. doi: 10.2460/ajvr.2004.65.1573.


Objective: To evaluate the haplotype distribution associated with the copper toxicosis gene and the segregation of the mutated allele in a Bedlington Terrier population in Australia.

Animals: 131 Bedlington Terriers.

Procedure: Samples of DNA and RNA were obtained from each dog. Genetic status of each dog was evaluated by use of the DNA markers C04107; single nucleotide polymorphism (SNP), which was adjacent to exon 2 of Murr1; and a deletion marker for exon 2. A subgroup of the study population was evaluated by use of biochemical and histologic techniques to elucidate the correlation between genotype and phenotype.

Results: We identified a recombination between the C04107 marker and Murr1 and a variation in a nucleotide in the splice site of exon 2 in our Bedlington Terrier cohort. Furthermore, we identified a novel haplotype associated with copper toxicosis in this cohort.

Conclusions and clinical relevance: Our findings indicate that the deletion of exon 2 was not the sole cause of copper toxicosis, although only exon 2 deletion of Murr1 has been responsible for copper toxicosis in Bedlington Terriers. Although we failed to find a novel mutation in our cohort, we identified an affected dog family with an intact exon 2. Furthermore, we found that an SNP in the 5' splicing site of exon 2 may or may not be associated with a novel mutation of the Murr1 gene or other genes. Loss of linkage between the C04107 marker and the Murr1 gene was also identified in a certain family of dogs.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Australia
  • Blotting, Southern
  • Copper / toxicity*
  • DNA Primers
  • Dog Diseases / genetics*
  • Dogs
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / veterinary*
  • Genetic Markers / genetics
  • Haplotypes / genetics*
  • Mutation / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Toxicogenetics


  • DNA Primers
  • Genetic Markers
  • Copper