Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse.
An 18-month-old Arabian foal characterized by a stallion-like appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX, a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an amino acid substitution.
Department of Experimental and Clinical Medicine, University Magna Graecia, Catanzaro, Italy.
F
F
Ciotola
S
S
Albarella
M P
MP
Pasolini
L
L
Auletta
L
L
Esposito
L
L
Iannuzzi
V
V
Peretti
D000818:Animals; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D005260:Female; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D007621:Karyotyping / Q000662:veterinary; D012733:Sex Differentiation / Q000235:genetics; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
D051876:Sex-Determining Region Y Protein