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Dominant White W10
| Acronym: | DW10 |
| Gene: | KIT |
| Mutation: | c.1126_1129delGAAC |
| Inheritance: | Autosomal Dominant |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Dominant White (W) is a general name given to a large number of white spotting patterns caused by mutations in the KIT gene in humans and other animals, including horses. There are up to 30 „W“ mutations that are currently known in horses and all are breed or line specific, having originated in one specific horse. All mutations in the KIT gene affect different signaling pathways influencing the development, migration, and proliferation of melanocytes. Dominant White W10 is a white spotting pattern that has been previously described in Quarter Horses and related breeds including Paint Horses, Appaloosas, and Pony of the Americas and is caused by a small deletion that produces a frameshift and a premature stop codon within the KIT gene. Horses with this specific mutation have a sabino-like to completely white coat.
This type of dominant white W10 in horses is inherited as an autosomal dominant trait meaning horses with even one copy of the mutated KIT gene will have white spotting patterns. Horses with two mutated genes, so-called double mutants, are likely embryonic lethal because the reduction or absence of KIT signaling affects more than just the pigment cells. Early detection by genetic testing can help identify carriers of the mutation and help breeders in further selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
Normal coat color |
Horse does not have the gene with DW mutation and has a normal coat color. |
Dominant white pattern |
Horse has one copy of the gene with DW associated mutation and displays a dominant white pattern. |
Dominant white pattern or embryonic lethal |
Horse has two copies of the gene with the any of the DW associated mutations and displays a dominant white pattern. It is also possible that this combination is embryonic lethal. |
References:
Haase, B., Brooks, S. A., Tozaki, T., Burger, D., Poncet, P. A., Rieder, S., Hasegawa, T., Penedo, C., Leeb, T. (2009). Seven novel KIT mutations in horses with white coat colour phenotypes. Animal genetics, 40(5), 623–629. https://doi.org/10.1111/j.1365-2052.2009.01893.x
Hauswirth, R., Jude, R., Haase, B., Bellone, R. R., Archer, S., Holl, H., Brooks, S. A., Tozaki, T., Penedo, M. C., Rieder, S., Leeb, T. (2013). Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Animal genetics, 44(6), 763–765. https://doi.org/10.1111/age.12057