Biochemical basis of the beta-glucoronidase gene defect causing canine mucopolysaccharidosis VII

Article Abstract:

A study was conducted to analyze the biochemical basis of the beta-glucuronidase gene defect that causes canine mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder resulting from the deficiency in the activity of enzyme beta-glucuronidase (GUSB). Results indicated that mutation at the GUSB locus leads to a protein that is susceptible to proteolytic degradation. Findings also confirmed the presence of GUSB mRNA in the affected and carrier samples.

author: Haskins, M.E., Scarpino, V., Ray, J., Laing, C.
Diseases, Biochemical genetics, Animals, Animal diseases

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Utility of canine microsatellites in revealing the relationships of pure bred dogs

Article Abstract:

A study was conducted to analyze the variability of 19 canine microsatellite loci within and between three pure breeds of dog. Phylogenetic relationships were determined by microsatellite and standard genetic distances. Results indicated that some highly polymorphic microsatellite loci were common to the three breeds. Findings also showed that polymorphic canine microsatellites are valuable descriptors of population structure and filial associations.

author: Sampson, J., Zajc, I.
Phylogeny

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Identification of a mutation in the CHAT gene of Old Danish pointing dogs affected with congenital myasthenic syndrome

Article Abstract:

The comparisons of recessive inherited muscle disease in Old Danish pointing dogs with myasthenic diseases of other dog breeds and humans are presented. It has pointed toward a defect in the synthesis of the neurotransmitter acetylcholine due to decreased activity of the enzyme choline acetyltransferase.

author: Proschowsky, Helle Friis, Flagstad, Annette, Joergensen, Claus B., Cirera, Susanna, Fredholm, Merete
Analysis, Gene mutations, Gene mutation, Myasthenia gravis

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subjects list: Research, Genetic aspects, Dogs
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