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Apaloosa Pattern 1
| Acronym: | PATN1 |
| Gene: | RFWD3 |
| Mutation: | g.23658447T>G |
| Inheritance: | Complex |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Appaloosa Pattern also referred to as Leopard complex spotting (LP) is a white spotting pattern in horses characterized by the absence of pigment in the coat. That coat pattern is common in Appaloosas, Miniature Horses, Knabstruppers, Norikers, and some other horse breeds and it determines if a horse will have a leopard complex spotting pattern while other genes have been identified to determine the extent and the amount of white patterning present in the coat color of a horse. One of these modifying genes is Pattern-1 (PATN1) which encodes an E3 ubiquitin ligase involved in DNA damage response (RFWD3) that also plays an important role in cell signaling in eye cells and pigment cells.
Appaloosa Pattern 1 in horses shows an autosomal dominant but also a complex mode of inheritance because the final coat color depends on a lot of additional factors including sex, age, base color, and spotting phenotype of parents. That means a horse carrying a single copy or both mutated PATN1 genes will observe large amounts of white as long as LP is present. A horse that has the PATN1 mutation, but does not show leopard spotting LP will not have an increased amount of white in its coat. Early detection by genetic testing can help identify carriers of the mutation and help breeders in the further selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
Normal Apaloosa pattern |
Horse does not have the gene with the mutation and will display normal Apaloosa pattern. |
More white in Apaloosa pattern - carrier of normal |
Horse has one copy of the gene with the mutation and will display a higer amounts of white color in Apaloosa pattern. |
More white in Apaloosa pattern |
Horse has two copies of the gene with the mutation and will display a higer amounts of white color in Apaloosa pattern. |
References:
Holl, H. M., Brooks, S. A., Archer, S., Brown, K., Malvick, J., Penedo, M. C., Bellone, R. R. (2016). Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Animal genetics, 47(1), 91–101. https://doi.org/10.1111/age.12375
Druml T., Grilz-Seger G., Neuditschko M., Neuhauser B., Brem G. (2017). Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses, Journal of Heredity, 108(5), 505–514, https://doi.org/10.1093/jhered/esx039