Missense mutation in the ligand-binding domain of the horse androgen receptor gene in a thoroughbred family with inherited 64,XY (SRY+) disorder of sex development
2016
Bolzon, Colin | Joone, C.J. (Carolynne) | Schulman, M.L. (Martin) | Harper, Cindy Kim | Villagómez, Daniel A.F. | King, W. Allan | Révay, Tamas
Disorders of sex development (DSD) have long been documented in domestic animal species including horses. However, there is only a single report of an androgen receptor mutation causative of such a DSD syndrome in a horse pedigree. Here, we present a new familial AR mutation in horses. A missense mutation (c.2042G>C) at AR exon 4 explains the segregation of the DSD in a Thoroughbred horse pedigree. The mutation, expected to affect the ligand-binding domain of the androgen receptor protein, led to complete androgen insensitivity of XY SRY+, testicular DSD individuals. Additionally, design of a PCR-RFLP technique provided an accurate molecular test for identification of horses carrying the mutation.
Show more [+] Less [-]The work was supported by the National Science and Engineering Research (NSERC) Council of Canada and the Canada Research Chairs Program.
Show more [+] Less [-]http://content.karger.com/Journal/Home/231547
Show more [+] Less [-]hb2016
Show more [+] Less [-]Production Animal Studies
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