Peer-reviewed veterinary case report
Cytogenetic and genetic studies in a hypospadic horse (Equus caballus, 2n = 64).
- Journal:
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
- Year:
- 2010
- Authors:
- De Lorenzi, L et al.
- Affiliation:
- Department of Animal Production · Italy
- Species:
- horse
Plain-English summary
A 4-year-old male Friesian horse had a noticeable problem with his penis, which was bent downward due to a condition called hypospadias. Despite this issue, he had normal body shape, growth, and sexual drive. Tests showed that while his chromosomes were normal for a male horse, one end of his chromosome 1 was shorter than usual. Further genetic testing revealed a normal sequence for one gene but a mutation in another gene that could affect development. Although the connection between this genetic change and his hypospadias is not clear, this study is the first of its kind to look at both the chromosomes and genes in a horse with this condition.
Abstract
A 4-year-old male horse of Friesian breed with normal body conformation, development and libido, and showing an evident ventral penis deviation with hypospadias, underwent both cytogenetic and genetic investigation. Although the karyotype showed normal male arrangement (2n = 64,XY), one telomere of horse (ECA) chromosome 1 was shorter than both the other one and those of a normal horse (control), as revealed by CBA- and RBA-banding, and by Ag-NOR and FISH-mapping techniques using telomere PNA probes. Genetic investigation of the SRY and MAMLD1 coding sequences revealed a normal SRY sequence and a mutation in the MAMLD1 gene sequence: a homozygous change (C>A) was found, leading to the synthesis of an isoleucine, instead of a leucine. Although it is difficult to find a strict correlation between hypospadias and the genetic defects revealed by this investigation, this study is the first to be performed in a hypospadic horse using both cytogenetic and genetic investigation.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/20733278/