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

Bolzon, Colin, Joonè, Carolynne J., Schulman, Martin L., Harper, Cindy K., Villagómez, Daniel A.F., King, W. Allan, and Rèvay, Tamas (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, 10 (1). pp. 37-44.

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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.

Item ID: 49683
Item Type: Article (Research - C1)
ISSN: 1661-5425
Keywords: androgen insensitivity syndrome, AR gene, disorder of sex development, horse
Funders: National Science and Engineering Research Council of Canada (NSERC), Canada Research Chairs Program
Date Deposited: 26 Jul 2017 07:31
FoR Codes: 07 AGRICULTURAL AND VETERINARY SCIENCES > 0707 Veterinary Sciences > 070702 Veterinary Anatomy and Physiology @ 20%
07 AGRICULTURAL AND VETERINARY SCIENCES > 0707 Veterinary Sciences > 070799 Veterinary Sciences not elsewhere classified @ 80%
SEO Codes: 83 ANIMAL PRODUCTION AND ANIMAL PRIMARY PRODUCTS > 8399 Other Animal Production and Animal Primary Products > 839999 Animal Production and Animal Primary Products not elsewhere classified @ 100%
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