Etalon Equine Genetics Discovers New Genetic Variants in Pura Raza Española Horses

Etalon Equine Genetics photo of a PRE horse with the Splashed White phenotype caused by variants in the MITF and PAX3 regions.

Etalon Equine Genetics, a leading provider of equine DNA testing services, has made another exciting breakthrough in equine genetics. Their research team, led by Aiden McFadden and Katie Martin, has identified two novel variants in the MITF and PAX3 genetic regions that are strongly associated with blue eyes and the “Splashed White” phenotypes in horses. The findings have been published in the Journal of Equine Veterinary Science.

Splashed White in horses is characterized by a coat color spotting pattern that appears the animal may have been dipped in white paint. Previous studies have linked this unique phenotype to specific variants in the PAX3 and MITF genes, which play crucial roles in melanocyte migration and pigmentation. Etalon Equine Genetics has discovered two new mutations in a group of Pura Raza Española (PRE) horses owned by the Gil Torrano family from Yeguada Sierra de la Espada.

These particular horses exhibit striking markings that include Splashed White patterns and distinctly blue eyes; both are highly uncommon among PRE horses. Genetic analysis revealed that these horses did not carry any previously known white alleles, including any formerly associated with the Splashed White family of mutations. Upon discovery of the new variants, the research team proposed nomenclature and designations of Splashed White 9/Giltor (SW9) and Splashed White 10/Giltor (SW10), paying tribute to the Gil Torrano herd in which they were discovered.

These new findings further our knowledge for the genetic basis of coat color as well as health and performance variants in mammals. This understanding can greatly contribute to the development of selective breeding programs specifically designed to preserve and manage remarkable and distinctive traits in horses.

Research is ongoing in an effort to fully understand the implications of these mutations and how far reaching they may be in other horse breeds or, possibly, other species. However, this discovery represents a significant advancement in the field of equine genetics, providing valuable insights into the complex mechanisms governing melanocyte migration, pigmentation, heritability and genetic diversity.

About Etalon Equine Genetics

Etalon Equine Genetics is a leading provider of equine DNA testing services. With a commitment to advancing the understanding of equine genetics, Etalon Equine Genetics offers comprehensive testing solutions to horse owners and breeders worldwide.

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