Etalon Equine Genetics Discovers New Novel White Variant in Pura Raza Española Horses
December 23, 2023
Menlo Park, CA - Etalon Equine Genetics, a leading provider of equine DNA testing services, has made an 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 genes that are strongly associated with splashed white phenotypes in horses. The findings have been published in the esteemed Journal of Equine Veterinary Science.
The splashed white phenotype is characterized by a coat spotting pattern that resembles a horse being splashed with white paint. Previous studies had linked this unique phenotype to specific variants in the PAX3 and MITF genes, which play crucial roles in melanocyte migration and pigmentation. Now, Etalon Equine Genetics has discovered two new mutations, named Splashed White 9 and Splashed White 10, in a group of Pura Raza Española (PRE) horses.
These particular horses, owned by the Gil Torrano family from Yeguada Sierra de la Espada, exhibit striking markings that include splashed white patterns and rare blue eyes, which are highly uncommon among PRE horses.
Interestingly, genetic analysis revealed that these horses did not carry any previously known white alleles, including the ones associated with the Splashed White family of mutations. However, the team identified two novel mutations: a stop-gain mutation in the PAX3 gene and a missense mutation in a binding domain of the MITF gene.
These groundbreaking findings have far-reaching implications for our knowledge of the genetic basis of splashed white phenotypes. This newfound understanding can greatly contribute to the development of targeted breeding programs, specifically designed to preserve and manage these remarkable and distinctive traits in horses.
Further research is needed to fully comprehend the implications of these mutations. However, this discovery represents a significant advancement in the field of equine genetics, providing valuable insights into the complex mechanisms governing melanocyte migration and pigmentation.
For more information or media inquiries, please contact Etalon Equine Genetics at [email protected] or 650.380.2995. High-resolution images are available upon request.
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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