title: Polymorphism of the CTNNB1 and FOXL2 Genes is not Associated with Canine XX Testicular/Ovotesticular Disorder of Sex Development.
abstract: 78,XX testicular or ovotesticular disorder of sex development (DSD) is the most common sex anomaly in dogs, but its molecular background remains unknown. It was hypothesized that the causative mutation may reside in canine chromosome 23 (CFA23), where two genes playing a pivotal role in ovarian development (CTNNB1 and FOXL2) are located. The aim of our study was to search for polymorphism in both candidate genes in 15 DSD dogs (78,XX and a lack of the SRYgene) and 29 normal females. Altogether, 7 novel polymorphic variants were identified: 5 SNPs in CTNNB1 and 2 indels in the FOXL2 gene. The distribution of the identified variants was similar in the DSD and control dogs. Therefore, we concluded that the conducted research did not prove an association between these polymorphisms and canine testicular or ovotesticular XX DSD.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Salamon
authors.forename: Joanna
authors.initials: J
authors.lastname: Nowacka-Woszuk
authors.forename: Marek
authors.initials: M
authors.lastname: Switonski
mesh_terms: D000818:Animals; D012734:Disorders of Sex Development / Q000235:genetics / Q000662:veterinary*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental / Q000502:physiology; D020022:Genetic Predisposition to Disease; D008297:Male; D011110:Polymorphism, Genetic; D051176:beta Catenin / Q000235:genetics / Q000378:metabolism*
chemical_list: D051858:Forkhead Transcription Factors; D051176:beta Catenin