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This study investigates a novel androgen receptor splice variant associated with XY disorder of sexual development in Thoroughbred horses.

April 29, 2026Animal GeneticsOpen Access

A Familial X‐Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice‐Site Variant

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This study investigates a novel androgen receptor splice variant associated with XY disorder of sexual development in Thoroughbred horses.
Genomic DNA isolated from blood samples of a mare and one of her female foals.
Short-read whole-genome sequencing conducted with Illumina NovaSeq6000.
Sanger sequencing and bioinformatics tools used to analyze and prioritize genomic variants.
Identified a novel splice-site variant in the androgen receptor gene (NC_091715.1:64377280T>C).
65,378 variants unique to the affected horse found, with 790 being protein-changing.
The variant likely arose de novo in the mare, correlating with observed DSD cases.

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Randomized trial examines an androgen receptor splice variant and its impact on XY DSD in Thoroughbred horses, suggesting a novel genetic cause.

Letko et al. (2026) studied this question.

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Randomized trial examines an androgen receptor splice variant and its impact on XY DSD in Thoroughbred horses, suggesting a novel genetic cause.