Peer-reviewed veterinary case report
Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse.
- Journal:
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
- Year:
- 2012
- Authors:
- Ciotola, F et al.
- Affiliation:
- Department of Experimental and Clinical Medicine · Italy
- Species:
- horse
Plain-English summary
An 18-month-old Arabian foal that looked like a male was examined because it had unusual external genitalia and structures similar to ovaries in its abdomen. Genetic tests showed that the foal had the normal female chromosome pattern for horses. Further analysis found that certain male-related genes were missing, while a gene typical for females was present. Although a small change in one part of a gene was noted, it didn't affect the foal's genetic makeup. The findings suggest that the foal's condition is due to a genetic anomaly rather than a specific gene causing the sex reversal.
Abstract
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/22025175/