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

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Authors

Bolzon, Colin
Joone, C.J. (Carolynne)
Schulman, M.L. (Martin)
Harper, Cindy Kim
Villagómez, Daniel A.F.
King, W. Allan
Révay, Tamas

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Karger

Abstract

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.

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Keywords

Missense mutation, Ligand-binding domain, Horse androgen receptor genes, Thoroughbred horse, Sex development

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Citation

Bolzon, 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.