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Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome.
Abstract: In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinical cases of horse AIS syndrome.
Publication Date: 2020-01-10 PubMed ID: 31936796PubMed Central: PMC7017088DOI: 10.3390/genes11010078Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Case Reports
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.
This research aims at exploring the development of Equine Androgen Insensitivity Syndrome (AIS) in horses due to the deficiency of androgenic action and identifies two novel genetic variations for the AR-gene in a Tennessee Walking Horse and a Thoroughbred horse mare.
Introduction
- The study investigates equine androgen insensitivity syndrome (AIS), a condition that results from a lack of androgenic action, leading to an improper masculinization and virilization in horses.
- The disorder creates an inconsistency between the horse’s genetic sex (XY) and its sexual appearance, making them appear female.
- AIS is a well-known phenomenon in human medical studies, and this research aims to bring to light similar occurrences in the equine world.
Methodology
- The researchers used specific gene-sequencing tools to accurately identify and document the mutations in the AR-gene that lead to AIS in horses.
- They studied two particular horses: a Tennessee Walking Horse and a Thoroughbred mare. They chose these two because they presented individual clinical instances of AIS.
Findings
- The study identified two novel genetic variants in the AR-gene.
- These variants are believed to be directly linked with the occurrence of AIS in these horses.
Implications and Conclusion
- The discovery of these novel genetic variations associated with AIS in horses is a significant step in understanding the biological and genetic mechanisms involved in gender determination and sexual development in equine species.
- The findings could also contribute to the development of more effective treatment or management strategies for horses suffering from AIS, improving the quality of life for these individuals.
Cite This Article
APA
Villagomez DAF, Welsford EG, King WA, Revay T.
(2020).
Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome.
Genes (Basel), 11(1), 78.
https://doi.org/10.3390/genes11010078 Publication
Researcher Affiliations
- Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
- Departamento de Produccion Animal, Universidad de Guadalajara, Zapopan 44100, Mexico.
- Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
- Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
- Karyotekk Inc. Box 363 OVC, University of Guelph, Guelph, ON N1G 2W1, Canada.
- Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.
MeSH Terms
- Androgen-Insensitivity Syndrome / genetics
- Androgen-Insensitivity Syndrome / veterinary
- Animals
- Female
- Genetic Variation / genetics
- Horses / genetics
- Male
- Mutation
- Phenotype
- Receptors, Androgen / genetics
- Receptors, Androgen / metabolism
- Sequence Analysis, Protein
- Sex Chromosomes
- Virilism / genetics
Conflict of Interest Statement
The authors declare no conflict of interest.
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Citations
This article has been cited 1 times.- Laseca N, Anaya G, Peña Z, Pirosanto Y, Molina A, Demyda Peyrás S. Impaired Reproductive Function in Equines: From Genetics to Genomics. Animals (Basel) 2021 Feb 3;11(2).
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