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Sabino 1
| Acronym: | Sabino 1 |
| Gene: | KIT |
| Mutation: | g.79544206A>T |
| Inheritance: | Autosomal Incompletely Dominant |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Sabino 1 is a dominant white spotting pattern and part of a larger group 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. Sabino 1 has been previously described in many different horse breeds and is caused by a mutation within the KIT gene that results in a partial loss of the gene coding sequence. Horses with this specific mutation have white markings on legs often accompanied by white ticking of the midsection and a blaze on the face.
This type of white spotting pattern in horses is inherited as an autosomal dominant trait with incomplete penetrance. That means horses will look different based on the number of mutated KIT genes they have. A horse with only one copy of the mutated gene is expected to have two or more white legs or feet, often with white running up the anterior part of the leg. Horses with two copies of the Sabino 1 gene are almost completely white and are referred to as sabino-white. 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 the mutation and has a normal coat color. |
Some Sabino white markings |
Horse has one copy of the gene with the mutation and displays some Sabino white markings. |
Sabino white coat color |
Horse has two copies of the gene with the mutation and displays Sabino white coat color. |
References:
Brooks, S. A., & Bailey, E. (2005). Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mammalian genome : official journal of the International Mammalian Genome Society, 16(11), 893–902. https://doi.org/10.1007/s00335-005-2472-y
Druml, T., Grilz-Seger, G., Neuditschko, M., Horna, M., Ricard, A., Pausch, H. and Brem, G. (2018), Novel insights into Sabino1 and splashed white coat color patterns in horses. Anim Genet, 49: 249-253. https://doi.org/10.1111/age.12657