Indirect Molecular Diagnosis of Copper Toxicosis in Bedlington Terriers Is Complicated by Haplotype Diversity
نویسندگان
چکیده
منابع مشابه
DNA testing for copper toxicosis in Bedlington terriers.
Copper toxicosis is an hereditary disease in which failure of the liver to expel dietary copper leads to a build-up of this toxic metal causing illness and death. It is inherited as an autosomal recessive trait. As such, two copies of the defective gene, one inherited from each parent, need to be present before an individual displays clinical signs. Dogs with one copy of the defective gene and ...
متن کاملIdentification of a new copper metabolism gene by positional cloning in a purebred dog population.
Domesticated animal species such as dogs and cats, with their many different characteristics and breed-specific diseases, and their close relationship and shared environment with humans, are a potentially rich source for the identification of the genetic contribution to human biology and disease. Copper toxicosis in Bedlington terriers is a genetic disease occurring with a high prevalence world...
متن کاملAnimal models of copper-associated liver disease
Recent advances in molecular biology have made possible the identification of genetic defects responsible for Wilson's disease, Indian childhood cirrhosis and copper toxicosis in Long Evans Cinnamon rats, toxic milk mice, and Bedlington terriers. The Wilson's disease gene is localized on human chromosome 13 and codes for ATP7B, a copper transporting P-type ATPase. A genetic defect similar to th...
متن کاملLiver-Specific Commd1 Knockout Mice Are Susceptible to Hepatic Copper Accumulation
Canine copper toxicosis is an autosomal recessive disorder characterized by hepatic copper accumulation resulting in liver fibrosis and eventually cirrhosis. We have identified COMMD1 as the gene underlying copper toxicosis in Bedlington terriers. Although recent studies suggest that COMMD1 regulates hepatic copper export via an interaction with the Wilson disease protein ATP7B, its importance ...
متن کاملNew canine models of copper toxicosis: diagnosis, treatment, and genetics.
The One Health principle recognizes that human health, animal health, and environmental health are inextricably linked. An excellent example is the study of naturally occurring copper toxicosis in dogs to help understand human disorders of copper metabolism. Besides the Bedlington terrier, where copper toxicosis is caused by a mutation in the COMMD1 gene, more complex hereditary forms of copper...
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ژورنال
عنوان ژورنال: Journal of Heredity
سال: 2003
ISSN: 1471-8505
DOI: 10.1093/jhered/esg030