Bolzon, ColinJoone, C.J. (Carolynne)Schulman, M.L. (Martin)Harper, Cindy KimVillagómez, Daniel A.F.King, W. AllanRévay, Tamas2016-08-162016-08-162016Bolzon, C, Joone, CJ, Schulman, ML, Harper, CK, Villagomez, DAF, King, WA & Revay, T 2016, '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', Sexual Development, vol. 10, no. 1, pp. 37-44.1661-5425 (print)1661-5433 (online)10.1159/000444991http://hdl.handle.net/2263/56359Disorders 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.en© 2016 S. Karger AG, BaselMissense mutationLigand-binding domainHorse androgen receptor genesThoroughbred horseSex developmentPostprint Article