ArticleScientific reports2015
Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 26 citations in OpenAlex.
- A Case of Disorder of Sex Development in Red Deer (<italic>Cervus elaphus</italic>).Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for theSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Review
- An Unusual Case of Collision Testicular Tumor in a Female DSD Dog.Veterinary sciences · 2023Article
- XX/XY Chimerism in Internal Genitalia of a Virilized Heifer.Animals : an open access journal from MDPI · 2022Article
- Clinical Cytogenetics of the Dog: A Review.Animals : an open access journal from MDPI · 2021Review
- Article
- The 30 kb deletion in theOncotarget · 2017Article
- Article
- MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency.Oncotarget · 2016Article
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.
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