Salamon Sylwia, Nowacka-Woszuk Joanna, Szczerbal Izabela, Dzimira Stanisław, Nizanski Wojciech, Ochota Malgorzata, Switonski Marek
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Sex Dev. 2014;8(4):160-5. doi: 10.1159/000363531. Epub 2014 Jun 28.
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.
具有雌性核型、缺失SRY基因且存在睾丸或卵睾的犬类性发育障碍（DSD）相当常见。据推测，这种障碍是由常染色体隐性突变引起的；然而，其他遗传模式尚未被完全排除。在早期研究中，有人假设该突变可能存在于犬类23号染色体（CFA23）的着丝粒周围区域。通过计算机模拟在7只睾丸或卵睾型XX DSD犬、8只病因不明的XX DSD犬（SRY阴性，阴蒂增大且性腺组织学未知）以及29只正常雌性犬作为对照组中筛选了三个位置候选基因（CLASP2、UBP1和FBXL2）以寻找多态性。在15只经分子研究且阴蒂增大的犬中，有3例新的睾丸或卵睾型XX DSD病例以及4例病因不明的XX DSD新病例（性腺组织学未知）。总共在研究基因的5'和3'侧翼区域发现了11个（包括10个新的）多态性。这些多态性的分布分析显示与DSD表型无关联。因此，得出结论：CFA23着丝粒周围区域存在睾丸或卵睾型XX DSD致病突变的可能性不大。
