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Hans S. Kooistra - One of the best experts on this subject based on the ideXlab platform.
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pituitary dwarfism in saarloos and czechoslovakian wolfdogs is associated with a mutation in lhx3
Journal of Veterinary Internal Medicine, 2014Co-Authors: Annemarie M W Y Voorbij, Peter A.j. Leegwater, Hans S. KooistraAbstract:Background Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. Objectives To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Animals Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with pituitary dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Methods Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Results Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. Conclusions and Clinical Importance An LHX3 mutation is associated with pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely.
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the leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in german Shepherd dogs
Research in Veterinary Science, 2006Co-Authors: J M Hanson, Peter A.j. Leegwater, Hans S. Kooistra, Björn P. MeijAbstract:Abstract Pituitary dwarfism in German Shepherd dogs is characterized by combined pituitary hormone deficiency (CPHD) and intrapituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)–LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of pituitary dwarfism in German Shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German Shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.
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exclusion of the lim homeodomain gene lhx4 as a candidate gene for pituitary dwarfism in german Shepherd dogs
Molecular and Cellular Endocrinology, 2002Co-Authors: Bernard A Van Oost, Sandra Imholz, Serge A Versteeg, Hans S. KooistraAbstract:Pituitary dwarfism in the German Shepherd dog is an autosomal recessive inherited abnormality. We tested the hypothesis that a variant of the LIM homeodomain gene LHX4 is responsible for the dwarfism phenotype. To this end, we isolated Bacterial Artificial Chromosome clones for the canine LHX4 gene. Southern blotting experiments showed that the LHX4 gene is a single copy gene in the canine genome. A complex CA-repeat was isolated from the BAC clones and was found to be polymorphic in German Shepherd dogs. Genotyping 5 litters in which the dwarfism was segregating showed disconcordance between the inheritance of the dwarfism phenotype and the DNA marker. It is concluded that the LHX4 gene does not play a primary role in the pituitary dwarfism in the German Shepherd dogs.
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combined pituitary hormone deficiency in german Shepherd dogs with dwarfism
Domestic Animal Endocrinology, 2000Co-Authors: Hans S. Kooistra, G Voorhout, A RijnberkAbstract:Abstract In German Shepherd dogs pituitary dwarfism is known as an autosomal recessive inherited abnormality. To investigate whether the function of cells other than the somatotropes may also be impaired in this disease, the secretory capacity of the pituitary anterior lobe (AL) cells was studied by a combined pituitary AL stimulation test with four releasing hormones (4RH test) in four male and four female German Shepherd dwarfs. In addition, the morphology of the pituitary was investigated by computed tomography. The physical features of the eight German Shepherd dwarfs were primarily characterized by growth retardation and stagnant development of the hair coat. The results of the 4RH test confirmed the presence of hyposomatotropism. The basal plasma TSH and prolactin concentrations were also low and did not change upon stimulation. Basal plasma concentrations of LH were relatively low and responded only slightly to suprapituitary stimulation. With respect to the plasma FSH levels there was a clear gender difference. In the males plasma FSH concentrations remained below the detection limit throughout the 4RH test, whereas in the females the basal plasma FSH levels were slightly lower and there was only a small increase following suprapituitary stimulation, compared with the values in age-matched controls. In contrast, basal and stimulated plasma ACTH concentrations did not differ between the dwarfs and the controls. Computed tomography of the pituitary fossa revealed a normal sized pituitary with cysts in five dogs, an enlarged pituitary with cysts in two dogs, and a small pituitary gland without cysts in the remaining dog. The results of this study demonstrate that German Shepherd dwarfs have a combined deficiency of GH, TSH, and prolactin together with impaired release of gonadotropins, whereas ACTH secretion is preserved. The combined pituitary hormone deficiency is associated with cyst formation and pituitary hypoplasia.
Yvonne Marschall - One of the best experts on this subject based on the ideXlab platform.
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Multiple loci associated with canine hip dysplasia (CHD) in German Shepherd dogs
Mammalian Genome, 2014Co-Authors: Lena Fels, Yvonne Marschall, Ute PhilippAbstract:Canine hip dysplasia (CHD) is the most common hereditary skeletal disorder in dogs. To identify common alleles associated with CHD, we developed 37 informative single nucleotide polymorphisms (SNPs) within 13 quantitative trait loci (QTL) previously identified for German Shepherd dogs. These SNPs were genotyped in 95 German Shepherd dogs affected by CHD and 95 breed, sex, and birth year-matched controls. A total of ten SNPs significant at a nominal P value of 0.05 were validated in 843 German Shepherd dogs including 277 unaffected dogs and 566 CHD-affected dogs. Cases and controls were sampled from the whole German Shepherd dog population in Germany in such a way that mean coancestry coefficients were below 0.1 % within cases and controls as well as among cases and controls. We identified nine SNPs significantly associated with CHD within five QTL on dog chromosomes (CFA) 3, 9, 26, 33, and 34. Genotype effects of these nine SNPs explained between 22 and 34 % of the phenotypic variance of hip dysplasia in German Shepherd dogs. The strongest associated SNPs were located on CFA33 and 34 within the candidate genes PNCP , TRIO , and SLC6A3 . Thus, the present study validated positional candidate genes within five QTL for CHD.
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mapping quantitative trait loci for canine hip dysplasia in german Shepherd dogs
Mammalian Genome, 2007Co-Authors: Yvonne MarschallAbstract:Canine hip dysplasia (CHD) is a common hereditary developmental disease of the coxofemoral joints. CHD is characterized by subluxation of the femoral head and deformation of the acetabulum leading to a painful osteoarthrosis. Analyses of mode of inheritance have shown the involvement of a major gene in expression of CHD in German Shepherd dogs. Thus, a whole genome scan for quantitative trait loci (QTL) was performed in German Shepherd dogs. For this purpose 11 paternal half-sib families, including a total of 459 purebred German Shepherd dogs with sires, dams, and offspring, were genotyped for 261 microsatellites. These markers were equidistantly distributed over all 38 autosomes and the X chromosome with an average marker distance of 11.7 cM. The mean observed heterozygosity of the marker set was 50%. The CHD status for the dogs was scored according to the official rules of the Federation Cynologique Internationale. At the genome-wide level of significance at p < 0.05, QTL for CHD were located on nine different canine chromosomes: 1, 3, 4, 8, 9, 16, 19, 26, and 33. The minimal QTL regions containing the CHD genes spanned on average 5 Mb with a range between 1 and 8.2 Mb. Chromosome-wide level of significance at p < 0.05 was found for QTL on 19 chromosomes. Further analyses can now be performed to refine these map positions of QTL already identified in German Shepherd dogs.
Lena Fels - One of the best experts on this subject based on the ideXlab platform.
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Multiple loci associated with canine hip dysplasia (CHD) in German Shepherd dogs
Mammalian Genome, 2014Co-Authors: Lena Fels, Yvonne Marschall, Ute PhilippAbstract:Canine hip dysplasia (CHD) is the most common hereditary skeletal disorder in dogs. To identify common alleles associated with CHD, we developed 37 informative single nucleotide polymorphisms (SNPs) within 13 quantitative trait loci (QTL) previously identified for German Shepherd dogs. These SNPs were genotyped in 95 German Shepherd dogs affected by CHD and 95 breed, sex, and birth year-matched controls. A total of ten SNPs significant at a nominal P value of 0.05 were validated in 843 German Shepherd dogs including 277 unaffected dogs and 566 CHD-affected dogs. Cases and controls were sampled from the whole German Shepherd dog population in Germany in such a way that mean coancestry coefficients were below 0.1 % within cases and controls as well as among cases and controls. We identified nine SNPs significantly associated with CHD within five QTL on dog chromosomes (CFA) 3, 9, 26, 33, and 34. Genotype effects of these nine SNPs explained between 22 and 34 % of the phenotypic variance of hip dysplasia in German Shepherd dogs. The strongest associated SNPs were located on CFA33 and 34 within the candidate genes PNCP , TRIO , and SLC6A3 . Thus, the present study validated positional candidate genes within five QTL for CHD.
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identification and validation of quantitative trait loci qtl for canine hip dysplasia chd in german Shepherd dogs
PLOS ONE, 2014Co-Authors: Lena FelsAbstract:Canine hip dysplasia (CHD) is the most common hereditary skeletal disorder in dogs. To identify common alleles associated with CHD, we genotyped 96 German Shepherd Dogs affected by mild, moderate and severe CHD and 96 breed, sex, age and birth year matched controls using the Affymetrix canine high density SNP chip. A mixed linear model analysis identified five SNPs associated with CHD scores on dog chromosomes (CFA) 19, 24, 26 and 34. These five SNPs were validated in a by sex, age, birth year and coancestry stratified sample of 843 German Shepherd Dogs including 277 unaffected dogs and 566 CHD-affected dogs. Mean coancestry coefficients among and within cases and controls were <0.1%. Genotype effects of these SNPs explained 20–32% of the phenotypic variance of CHD in German Shepherd Dogs employed for validation. Genome-wide significance in the validation data set could be shown for each one CHD-associated SNP on CFA24, 26 and 34. These SNPs are located within or in close proximity of genes involved in bone formation and related through a joint network. The present study validated positional candidate genes within two previously known quantitative trait loci (QTL) and a novel QTL for CHD in German Shepherd Dogs.
Ute Philipp - One of the best experts on this subject based on the ideXlab platform.
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Multiple loci associated with canine hip dysplasia (CHD) in German Shepherd dogs
Mammalian Genome, 2014Co-Authors: Lena Fels, Yvonne Marschall, Ute PhilippAbstract:Canine hip dysplasia (CHD) is the most common hereditary skeletal disorder in dogs. To identify common alleles associated with CHD, we developed 37 informative single nucleotide polymorphisms (SNPs) within 13 quantitative trait loci (QTL) previously identified for German Shepherd dogs. These SNPs were genotyped in 95 German Shepherd dogs affected by CHD and 95 breed, sex, and birth year-matched controls. A total of ten SNPs significant at a nominal P value of 0.05 were validated in 843 German Shepherd dogs including 277 unaffected dogs and 566 CHD-affected dogs. Cases and controls were sampled from the whole German Shepherd dog population in Germany in such a way that mean coancestry coefficients were below 0.1 % within cases and controls as well as among cases and controls. We identified nine SNPs significantly associated with CHD within five QTL on dog chromosomes (CFA) 3, 9, 26, 33, and 34. Genotype effects of these nine SNPs explained between 22 and 34 % of the phenotypic variance of hip dysplasia in German Shepherd dogs. The strongest associated SNPs were located on CFA33 and 34 within the candidate genes PNCP , TRIO , and SLC6A3 . Thus, the present study validated positional candidate genes within five QTL for CHD.
Dale G Dunn - One of the best experts on this subject based on the ideXlab platform.
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a study of the lifetime occurrence of neoplasia and breed differences in a cohort of german Shepherd dogs and belgian malinois military working dogs that died in 1992
Journal of Veterinary Internal Medicine, 2000Co-Authors: Michael R Peterson, Allen R Frommelt, Dale G DunnAbstract:The population of U.S. Department of Defense military working dogs provides an opportunity to study the lifetime occurrence of neoplasia in 2 breeds of dogs--the German Shepherd Dog and the Belgian Malinois. Medical records were reviewed for all dogs that died or were euthanized in 1992 (135 German Shepherd Dogs and 106 Belgian Malinois). Histologically confirmed neoplasms were recorded. More than 30% of both breeds (41 German Shepherd Dogs and 33 Belgian Malinois) developed at least 1 primary neoplasm during their lives, with 10% developing more than 1 neoplasm. Nearly 57% of the neoplasms were benign, and approximately 43% were malignant. German Shepherd Dogs lived 9.7 years, on average, and Belgian Malinois lived 7.9 years, on average. Of the dogs that developed any neoplasm, Belgian Malinois had a mean age at 1st diagnosis that was 1.1 years younger and a mean age at 1st diagnosis of malignancy that was 1.7 years younger than those in German Shepherd Dogs. The risk of a malignancy being the cause of death or euthanasia of a Belgian Malinois was 4.21 times the risk in German Shepherd Dogs (95% CI: 1.32, 13.47). Seminoma was the malignancy that occurred most frequently. Hemangioma was the benign neoplasm that occurred most frequently. Veterinarians identified masses clinically at equal rates in both groups.
