title: A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative).
abstract: A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely.
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Salamon
authors.forename: Joanna
authors.initials: J
authors.lastname: Nowacka-Woszuk
authors.forename: Izabela
authors.initials: I
authors.lastname: Szczerbal
authors.forename: Stanisław
authors.initials: S
authors.lastname: Dzimira
authors.forename: Wojciech
authors.initials: W
authors.lastname: Nizanski
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Ochota
authors.forename: Marek
authors.initials: M
authors.lastname: Switonski
mesh_terms: D000818:Animals; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics* / Q000662:veterinary; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D044783:F-Box Proteins / Q000235:genetics*; D005260:Female; D024282:Genes, sry; D056726:Genetic Association Studies / Q000662:veterinary; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D004268:DNA-Binding Proteins; D044783:F-Box Proteins; D008869:Microtubule-Associated Proteins