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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Date
Authors
Bolzon, Colin
Joone, C.J. (Carolynne)
Schulman, M.L. (Martin)
Harper, Cindy Kim
Villagómez, Daniel A.F.
King, W. Allan
Révay, Tamas
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Missense mutation, Ligand-binding domain, Horse androgen receptor genes, Thoroughbred horse, Sex development
Sustainable Development Goals
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.