| Autor: |
Sara Albarella, Lisa De Lorenzi, Elena Rossi, Francesco Prisco, Marita Georgia Riccardi, Brunella Restucci, Francesca Ciotola, Pietro Parma |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Animals, Vol 10, Iss 9, p 1667 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2076-2615 |
| DOI: |
10.3390/ani10091667 |
| Popis: |
Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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