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Updated: Aug 20, 2026
A Caenorhabditis elegans Nutritional-status Based Copper Aversion Assay
Published on: July 26, 2017
Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia
Changbaig Hyun1, Lopeti T Lavulo, Lucio J Filippich
1School of Veterinary Science, University of Queensland, Brisbane, QLD 4072, Australia.
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.
