title: Evaluation of haplotypes associated with copper toxicosis in Bedlington Terriers in Australia.
abstract: 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.
  
  
  METHODS
  131 Bedlington Terriers.
  
  
  METHODS
  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
  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.
authors.affiliation: School of Veterinary Science, University of Queensland, Brisbane, QLD 4072, Australia.
authors.forename: Changbaig
authors.initials: C
authors.lastname: Hyun
authors.forename: Lopeti T
authors.initials: LT
authors.lastname: Lavulo
authors.forename: Lucio J
authors.initials: LJ
authors.lastname: Filippich
mesh_terms: D000818:Animals; D001315:Australia; D015139:Blotting, Southern; D003300:Copper / Q000633:toxicity*; D017931:DNA Primers; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000662:veterinary*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D043922:Toxicogenetics
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D003300:Copper