title: 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.
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 (AR) 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 AR protein, led to complete androgen insensitivity of 64,XY SRY+, testicular DSD individuals. Additionally, the design of a PCR-RFLP technique provided an accurate molecular test for the identification of horses carrying the mutation.
authors.affiliation: Department of Biomedical Sciences, University of Guelph, Guelph, Ont., Canada.
authors.forename: Colin
authors.initials: C
authors.lastname: Bolzon
authors.forename: Carolynne J
authors.initials: CJ
authors.lastname: Joonè
authors.forename: Martin L
authors.initials: ML
authors.lastname: Schulman
authors.forename: Cindy K
authors.initials: CK
authors.lastname: Harper
authors.forename: Daniel A F
authors.initials: DA
authors.lastname: Villagómez
authors.forename: W Allan
authors.initials: WA
authors.lastname: King
authors.forename: Tamas
authors.initials: T
authors.lastname: Révay
mesh_terms: D000818:Animals; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006736:Horses; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D012730:Sex Chromosomes / Q000235:genetics
chemical_list: D011944:Receptors, Androgen