Peer-reviewed veterinary case report
Molecular analysis of an XY mare with gonadal dysgenesis.
- Journal:
- Hereditas
- Year:
- 1995
- Authors:
- Pailhoux, E et al.
- Affiliation:
- INRA · France
- Species:
- horse
Plain-English summary
This study looked at a mare (a female horse) that couldn't have babies and found she had an unusual genetic makeup known as a 64, XY karyotype, which is typically male. Although she looked like a female, she had a condition called gonadal dysgenesis, meaning her reproductive organs didn't develop properly. Tests on her blood showed that a part of a gene called SRY, which is important for male development, was missing, but another gene called ZFY was still there. The findings help explain why this mare was infertile.
Abstract
In this study, cytogenetic analysis of an infertile mare revealed a 64, XY karyotype. The XY sex-reversed animal had a female phenotype with gonadal dysgenesis. Using Southern blot analysis, we tested for the presence of two Y-specific genes SRY and ZFY by using DNA isolated from peripheral blood leukocytes. The results showed that at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare but that the ZFY gene was present on this chromosome.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/7558880/