Abstract
An 18-month-old Arabian foal characterized by a stallionlike 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.
| Original language | English |
|---|---|
| Pages (from-to) | 104-107 |
| Number of pages | 4 |
| Journal | Sexual Development |
| Volume | 6 |
| Issue number | 1-3 |
| DOIs | |
| Publication status | Published - Feb 2012 |
Keywords
- Arabian horse
- RSPO1
- Sex reversal syndrome
- SRY
- ZFX/ZFY
ASJC Scopus subject areas
- Developmental Biology
- Embryology
- Endocrinology, Diabetes and Metabolism
- Medicine(all)
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Ciotola, F., Albarella, S., Pasolini, M. P., Auletta, L., Esposito, L., Iannuzzi, L., & Peretti, V. (2012). Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse. Sexual Development, 6(1-3), 104-107. https://doi.org/10.1159/000331480