title: Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs.
abstract: The roles of the calcium sensing receptor gene (CaSR) and the multiple endocrine neoplasia gene (MEN1) were investigated in Keeshond dogs with familial hyperparathyroidism. Mutations in these genes have been shown to cause familial isolated hyperparathyroidism (FIH) in humans. Affected dogs were identified through measurement of blood calcium and parathyroid hormone levels. Parathyroid tissue and whole blood was used to clone the cDNAs and individual exonic sequences of both candidate genes. No sequence abnormalities were identified when comparing normal and affected dogs, suggesting that a mapping strategy may be the most appropriate approach for identifying the genetic basis of this valuable comparative canine disease model.
authors.affiliation: Department of Veterinary Medicine, University of Cambridge, Madingley Road, Cambridge CB3 0ES, UK. bjs1000@cam.ac.uk
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Skelly
authors.forename: Robin J M
authors.initials: RJ
authors.lastname: Franklin
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000209:etiology* / Q000235:genetics; D004285:Dogs; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology / Q000235:genetics* / Q000662:veterinary*; D009154:Mutation / Q000235:genetics*