Peer-reviewed veterinary case report
COMMD1 gene mutation causes copper poisoning in Bedlington terriers
By Forman, O P et al.·Published in Animal genetics·2005·Animal Health Trust, United Kingdom·View original on PubMed →
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Original publication title: Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.
- Species:
- dog
Plain-English summary
A group of Bedlington terriers was found to have copper toxicosis, a serious condition that leads to high copper levels in the liver and can cause early death. Researchers discovered that a specific genetic mutation in the COMMD1 gene was responsible for this problem. They developed a genetic test to identify dogs with this mutation, which can help owners and vets manage the condition early. This test can be crucial for preventing severe health issues in affected dogs.
People also search for: Bedlington terrier copper toxicosis · dog liver disease genetic test · copper levels in dogs
Abstract
Copper toxicosis is an autosomal recessive disorder affecting Bedlington terriers, characterized by elevated liver copper levels and early death of affected dogs. Genetic linkage mapping studies initially identified linkage between the disease and the microsatellite marker C04107. Subsequently, the deletion of exon 2 of the copper metabolism domain containing 1 (COMMD1) gene (formerly MURR1) was shown to be the major cause of copper toxicosis, although the deletion breakpoints were not defined. In this investigation, polymerase chain reaction (PCR)-based techniques and sequencing were used to isolate the deletion breakpoints, utilizing the newly available dog genome sequence. The breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb. The two breakpoints share sequence homology suggesting that homologous recombination may have been responsible for the deletion. Using this information, a genomic diagnostic test for the COMMD1 deletion was developed and compared with microsatellite C04107 genotypes of 40 Bedlington terriers. Results from the 40 samples showed allele 2 of C04107 to be in linkage disequilibrium with the COMMD1 deletion.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16293123/