Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study

• DOI: 10.1371/journal.pone.0218565
• Publication Date: 2019-06-20T17:40:52Z
• Authors: Joanna Nowacka-Wo...; Izabela Szczerbal; Monika Stachowiak; Maciej Szydlowski; Wojciech Nizanski; Stanislaw Dzimira; Artur Maslak; Rita Payan-Carreira; Eline Wydooghe; Tomasz Nowak; Marek Switonski
• Keywords: Testis determining factor; SOX9; Sanger sequencing

Testicular or ovotesticular disorders of sex development (DSD) in individuals with female karyotype (XX) lacking the SRY gene has been observed several mammalian species, including dogs. A genetic background for this abnormality extensively sought, and region harboring SOX9 often considered key canine DSD. Three types polymorphism have studied to date: a) copy number variation (CNV) a about 400 kb upstream SOX9, named CNVR1; b) duplication SOX9; c) insertion single G-nucleotide (rs852549625) approximately 2.2 Mb SOX9. The aim study was thus comprehensively analyze these polymorphisms large multibreed case-control cohort containing 45 XX DSD dogs, representing 23 breeds. control set contained 57 fertile females. Droplet digital PCR (ddPCR) used CNVR1 Fluorescent situ hybridization (FISH) visualize numbers on cellular level. Sanger sequencing approach performed G-insertion. We confirmed that is highly polymorphic varied between 0 7 case cohorts. Interestingly, copies significantly higher (P = 0.038) dogs (mean 2.7) than females 2.0) but not all Duplication noted only dog (an American Bully), which had three Distribution similar (frequency 0.20) 0.14) Concluding, our showed CNVR1, located associated phenotype, though breed-specific manner. rare cause disorder Moreover, we did observe any association G-insertion phenotype. assume can be different certain