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

Genes (Basel). 2020 Jan 10;11(1):78. doi: 10.3390/genes11010078.

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.

Keywords: AR-gene mutation; androgen insensitivity; androgen receptor; horse.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

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

Substances

  • Receptors, Androgen