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.
Analysis of XX SRY-negative sex reversal dogs / S. Albarella, L. De Lorenzi, E. Rossi, F. Prisco, M.G. Riccardi, B. Restucci, F. Ciotola, P. Parma. - In: ANIMALS. - ISSN 2076-2615. - 10:9(2020), pp. 1667.1-1667.13.
|Titolo:||Analysis of XX SRY-negative sex reversal dogs|
PARMA, PIETRO (Ultimo)
|Parole Chiave:||Bitch; Copy number variation (CNV); Disorder of sex development (DSD); SOX9|
|Settore Scientifico Disciplinare:||Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico|
|Data di pubblicazione:||2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3390/ani10091667|
|Appare nelle tipologie:||01 - Articolo su periodico|