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Heather J Huson - One of the best experts on this subject based on the ideXlab platform.

  • Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
    BMC Genetics, 2013
    Co-Authors: Orly Goldstein, Susan E. Pearce-kelling, Amy M Knollinger, Debbie Holley, Gregory M Acland, Anna V. Kukekova, Heather J Huson, Andras M Komaromy
    Abstract:

    Background Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. The most common causes for the disease are mutations in the CNGB3 gene, coding for the beta subunit of the cyclic nucleotide-gated channels in cones. CNGB3 -achromatopsia, or cone degeneration (cd), is also known to occur in two canine breeds, the Alaskan malamute (AM) and the German shorthaired pointer. Results Here we report an in-depth characterization of the achromatopsia phenotype in a new canine breed, the miniature Australian shepherd (MAS). Genotyping revealed that the dog was homozygous for a complete genomic deletion of the CNGB3 gene, as has been previously observed in the AM. Identical breakpoints on chromosome 29 were identified in both the affected AM and MAS with a resulting deletion of 404,820 bp. Pooled DNA samples of unrelated purebred Australian shepherd, MAS, Siberian Husky, Samoyed and Alaskan sled dogs were screened for the presence of the affected allele; one Siberian Husky and three Alaskan sled dogs were identified as carriers. The affected chromosomes from the AM, MAS, and Siberian Husky were genotyped for 147 SNPs in a 3.93 Mb interval within the cd locus. An identical shared affected haplotype, 0.5 Mb long, was observed in all three breeds and defined the minimal linkage disequilibrium (LD) across breeds. This supports the idea that the mutated allele was identical by descent (IBD). Conclusion We report the occurrence of CNGB3 -achromatopsia in a new canine breed, the MAS. The CNGB3 -deletion allele previously described in the AM was also observed in a homozygous state in the affected MAS, as well as in a heterozygous carrier state in a Siberian Husky and Alaskan sled dogs. All affected alleles were shown to be IBD, strongly suggesting an affected founder effect. Since the MAS is not known to be genetically related to the AM, other breeds may potentially carry the same cd-allele and be affected by achromatopsia.

  • breed specific ancestry studies and genome wide association analysis highlight an association between the myh9 gene and heat tolerance in alaskan sprint racing sled dogs
    Mammalian Genome, 2012
    Co-Authors: Maud Rimbault, Heidi G Parker, Jonathan Runstadler, Alexandra M Byers, Bridgett M Vonholdt, Heather J Huson, Elaine A Ostrander
    Abstract:

    Alaskan sled dogs are a genetically distinct population shaped by generations of selective interbreeding with purebred dogs to create a group of high-performance athletes. As a result of selective breeding strategies, sled dogs present a unique opportunity to employ admixture-mapping techniques to investigate how breed composition and trait selection impact genomic structure. We used admixture mapping to investigate genetic ancestry across the genomes of two classes of sled dogs, sprint and long-distance racers, and combined that with genome-wide association studies (GWAS) to identify regions that correlate with performance-enhancing traits. The sled dog genome is enhanced by differential contributions from four non-admixed breeds (Alaskan Malamute, Siberian Husky, German Shorthaired Pointer, and Borzoi). A principal components analysis (PCA) of 115,000 genome-wide SNPs clearly resolved the sprint and distance populations as distinct genetic groups, with longer blocks of linkage disequilibrium (LD) observed in the distance versus sprint dogs (7.5–10 and 2.5–3.75 kb, respectively). Furthermore, we identified eight regions with the genomic signal from either a selective sweep or an association analysis, corroborated by an excess of ancestry when comparing sprint and distance dogs. A comparison of elite and poor-performing sled dogs identified a single region significantly associated with heat tolerance. Within the region we identified seven SNPs within the myosin heavy chain 9 gene (MYH9) that were significantly associated with heat tolerance in sprint dogs, two of which correspond to conserved promoter and enhancer regions in the human ortholog.

Christian Lydersen - One of the best experts on this subject based on the ideXlab platform.

  • Evaluating breeding habitat and populations of ringed seals Phoca hispida in Svalbard fjords
    Polar Record, 1991
    Co-Authors: Christian Lydersen
    Abstract:

    In Tempelfjorden and Sassenfjorden, Svalbard, 12 March to4 April 1990, a Siberian Husky dog was used to detect ringed seal breathing holes in the ice, using random stratified sampling to sample 20% (40 km 2 ) of the total area. The area was estimated to contain 997 ringed seal breathing holes, corresponding to 293 ringed seals. A maximum of 185 pups were born in the area. A breeding condition factor was constructed to enable comparisons of yearly and areal variation in ice cover and precipitation within ringed seal breeding habitats.

  • A survey of the Van Mijen fiord, Svalbard, as habitat for ringed seals, Phoca hispida
    Ecography, 1990
    Co-Authors: Christian Lydersen, Per Magne Jensen, Espen Lydersen
    Abstract:

    The ringed seal breeding habitat of the Van Mijen fiord, Svalbard, Norway, was studied from 30 March to 22 May 1986. A Siberian Husky dog was used to detect ringed seal birth lairs and breathing holes. Fifteen percent of the total fiord areas was sampled. We estimated the densitites of birth lairs and breathing holes to be 0.04 km-2 and 1.30 km-2, respectively. The Van Mijen fiord was a poor ringed seal breeding habitat compared with breeding habitats investigated both in Canada and other parts of Svalbard. The main reason is probably shallow snow depth and lack of structures such as pressure ridges around which enough snow could accumulate for the ringed seal females to be able to dig out their lairs. The number of seals inhabiting the area during the breeding period 1986 was approximately 125 animals.

Korakot Nganvongpanit - One of the best experts on this subject based on the ideXlab platform.

  • Detection of Genetic Variations Using RAPD Markers in Siberian Huskies Affected with Swimming Puppy Syndrome
    Thai Journal of Veterinary Medicine, 2020
    Co-Authors: Siriwadee Chomdej, Arphaphorn Dokphut, Waranee Pradit, Korakot Nganvongpanit
    Abstract:

    Swimming puppy syndrome (SPS) is a curious disease found in dogs. The causes and pathology of this disease are still unknown, although heredity is usually considered to be one of the underlying factors. The objective of this study was to investigate the association between genetics and SPS in a Siberian Husky model. Four Siberian Husky puppies diagnosed with SPS were subjects of this study, while three other healthy Siberian Husky puppies served as controls. Blood samples were collected for DNA isolation, using random amplified polymorphic DNA (RAPD) technique with 16 random primers. No genetic variation was found between affected puppies and healthy puppies, which indicated that swimming puppy syndrome is not controlled by genetics.

  • Serum Biochemistry in Four Siberian Husky Puppies with Swimming Puppy Syndrome
    Open Journal of Veterinary Medicine, 2012
    Co-Authors: Korakot Nganvongpanit
    Abstract:

    Complete blood counts and blood chemistry in four Siberian Husky puppies diagnosed with swimming puppy syndrome were compared with four healthy Siberian Husky puppies. Only serum creatine kinase in affected puppies was significantly (P < 0.01) higher than in normal puppies. Although serum creatine kinase level cannot be used for diagnosis of this disease, it could serve as a tool for prognosis of the disease after treatment.

Elaine A Ostrander - One of the best experts on this subject based on the ideXlab platform.

  • breed specific ancestry studies and genome wide association analysis highlight an association between the myh9 gene and heat tolerance in alaskan sprint racing sled dogs
    Mammalian Genome, 2012
    Co-Authors: Maud Rimbault, Heidi G Parker, Jonathan Runstadler, Alexandra M Byers, Bridgett M Vonholdt, Heather J Huson, Elaine A Ostrander
    Abstract:

    Alaskan sled dogs are a genetically distinct population shaped by generations of selective interbreeding with purebred dogs to create a group of high-performance athletes. As a result of selective breeding strategies, sled dogs present a unique opportunity to employ admixture-mapping techniques to investigate how breed composition and trait selection impact genomic structure. We used admixture mapping to investigate genetic ancestry across the genomes of two classes of sled dogs, sprint and long-distance racers, and combined that with genome-wide association studies (GWAS) to identify regions that correlate with performance-enhancing traits. The sled dog genome is enhanced by differential contributions from four non-admixed breeds (Alaskan Malamute, Siberian Husky, German Shorthaired Pointer, and Borzoi). A principal components analysis (PCA) of 115,000 genome-wide SNPs clearly resolved the sprint and distance populations as distinct genetic groups, with longer blocks of linkage disequilibrium (LD) observed in the distance versus sprint dogs (7.5–10 and 2.5–3.75 kb, respectively). Furthermore, we identified eight regions with the genomic signal from either a selective sweep or an association analysis, corroborated by an excess of ancestry when comparing sprint and distance dogs. A comparison of elite and poor-performing sled dogs identified a single region significantly associated with heat tolerance. Within the region we identified seven SNPs within the myosin heavy chain 9 gene (MYH9) that were significantly associated with heat tolerance in sprint dogs, two of which correspond to conserved promoter and enhancer regions in the human ortholog.

J Seva - One of the best experts on this subject based on the ideXlab platform.

  • arrhythmogenic right ventricular dysplasia cardiomyopathy in a Siberian Husky
    Journal of Small Animal Practice, 2001
    Co-Authors: M Fernandez J Del Palacio, L J Bernal, A Bayon, A Bernabe, J Seva
    Abstract:

    : A seven-month-old male Siberian Husky was presented with a recent history of anorexia, hindlimb weakness and syncope. Physical examination revealed severe tachycardia, tachypnoea and dyspnoea. Mucous membranes were pale and femoral pulses were weak. An electrocardiogram showed sustained ventricular tachycardia with a left bundle branch block configuration. Thoracic radiographs revealed slight right ventricular enlargement and two-dimensional echocardiography revealed mild right ventricular dilation at the cardiac apex and some hyperechogenic areas on the right side of the interventricular septum. Administration of intravenous lignocaine converted the ventricular tachycardia to sinus rhythm. The maintenance antiarrhythmic therapy consisted of oral procainamide and propranolol. Three weeks later the dog died suddenly. On postmortem examination, the right ventricular free wall was very thin at the apex, infundibulum and caudal aspect of the right ventricular parietal wall, similar to the 'triangle of dysplasia' of human patients. Histopathological examination revealed replacement of several areas of right ventricular free wall myocardium with connective tissue and fat. The right atrium and left ventricle were less severely affected by the same lesions. The clinical and pathological findings are similar to those reported in young people with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy in a Siberian Husky
    Journal of Small Animal Practice, 2001
    Co-Authors: M.j. Fernández Del Palacio, L J Bernal, A Bayon, A Bernabe, J Seva
    Abstract:

    : A seven-month-old male Siberian Husky was presented with a recent history of anorexia, hindlimb weakness and syncope. Physical examination revealed severe tachycardia, tachypnoea and dyspnoea. Mucous membranes were pale and femoral pulses were weak. An electrocardiogram showed sustained ventricular tachycardia with a left bundle branch block configuration. Thoracic radiographs revealed slight right ventricular enlargement and two-dimensional echocardiography revealed mild right ventricular dilation at the cardiac apex and some hyperechogenic areas on the right side of the interventricular septum. Administration of intravenous lignocaine converted the ventricular tachycardia to sinus rhythm. The maintenance antiarrhythmic therapy consisted of oral procainamide and propranolol. Three weeks later the dog died suddenly. On postmortem examination, the right ventricular free wall was very thin at the apex, infundibulum and caudal aspect of the right ventricular parietal wall, similar to the 'triangle of dysplasia' of human patients. Histopathological examination revealed replacement of several areas of right ventricular free wall myocardium with connective tissue and fat. The right atrium and left ventricle were less severely affected by the same lesions. The clinical and pathological findings are similar to those reported in young people with arrhythmogenic right ventricular dysplasia/cardiomyopathy.