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Open AccessArticle

Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome

1
Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada
2
Departamento de Produccion Animal, Universidad de Guadalajara, Zapopan 44100, Mexico
3
Karyotekk Inc. Box 363 OVC, University of Guelph, Guelph, ON N1G 2W1, Canada
*
Author to whom correspondence should be addressed.
Current address: Alberta Children’s Hospital Research Institute (ACHRI), University of Calgary, Calgary, AB T2N 1N4, Canada.
Genes 2020, 11(1), 78; https://doi.org/10.3390/genes11010078
Received: 9 December 2019 / Revised: 2 January 2020 / Accepted: 9 January 2020 / Published: 10 January 2020
(This article belongs to the Special Issue Genomics of Sexual Development and Reproduction in Mammals)
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. View Full-Text
Keywords: androgen receptor; AR-gene mutation; androgen insensitivity; horse androgen receptor; AR-gene mutation; androgen insensitivity; horse
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MDPI and ACS Style

Villagomez, D.A.; Welsford, E.G.; King, W.A.; Revay, T. Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome. Genes 2020, 11, 78.

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