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

摘要: Disorders of sex development (DSD) have long been documented in domestic animal species including horses. However, there is only a single report an androgen receptor (AR) mutation causative such DSD syndrome horse pedigree. Here, we present new familial AR A missense (c.2042G>C) at exon 4 explains the segregation Thoroughbred The mutation, expected to affect ligand-binding domain protein, led complete insensitivity 64,XY SRY+, testicular individuals. Additionally, design PCR-RFLP technique provided accurate molecular test for identification horses carrying mutation.