Androgen Insensitivity Syndrome AIS

 

Androgen Insensitivity Syndrome (AIS)

 

Gene or region: AR

Reference allele: A

Mutant allele: G

Affected Breeds: Quarter Horse

 

Research Confidence:                             High confidence, findings supported by other species

 

 

What it does:

 

 

Androgen Insensitivity Syndrome (AIS), previously known as Testicular Feminization Syndrome, is a disorder of sexual development in which a horse with a XY SRY+ karyotype appears female. Horses with AIS exhibit stallion-like behaviors, have external female genitalia, and often internal un-descended testicles.

 

AR is a steroid-activated transcription factor that plays a key role in normal sexual development. Mutations in other species have been noted to cause AIS and have been associated with prostate cancer. This particular mutation is a single base change that alters the start codon of the encoded protein. Though normal transcription and translation still occurs, the encoded protein likes has an altered function.

 

 

Publications

 

 

Révay T et al., “GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.” (2012) Sex Dev. 6: 108-16. PMID: 22095250

 

CONTACT

 

Phone:   650.380.2995

Email:     info@etalondx.com

 

VISIT

 

405 El Camino Real, #234 Menlo Park, CA 94025

 

CONNECT

  • Facebook
  • Twitter
  • Instagram

© 2020 Etalon Inc.