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E Locus (Eh; Sable) – Cocker Spaniel Type
| Acronym: | E Locus, |
| Gene: | MC1R |
| Mutation: | c.250G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Coat color in dogs is an important characteristic along with hair length, growth pattern, and curl. Coat color is determined by the expression of two melanin pigments, eumelanin (black/brown) and pheomelanin (yellow/red). The Melanocortin 1 Receptor (MC1R) plays a central role in the regulation of coat color determination in various species, including dogs, and is commonly referred to as the E (extension) Locus. It represents the key signaling molecule on melanocytes inducing expression of enzymes responsible for eumelanin synthesis Previously, there have been reported few variants of the MC1R gene that are causing different color phenotypes with different inheritance patterns. Those variants include phenotypes such as EM (melanistic mask), EG (grizzle/domino), and e1–3 (recessive red) in dogs. A new point mutation variant of MC1R has been described in Cocker Spaniel and English Cocker Spaniel dogs causing a new color phenotype called sable (Eh) or dark brownish color.
Sable color in Cocker Spaniel dogs has a complex inheritance pattern, involving several genes, but the most important is the MC1R gene. This mutation is recessive to the E variant (which allows dark pigment) and dominant to the e allele (red/apricot/cream). If the dog carries a sable variant and dominant E variant, its coat will be dark-colored. If the dog carries a recessive e variant and a sable variant or both sable variants, it will result in a sable coat pattern. Genetic testing can identify carriers and help breeders in future mating pairs selection.
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References:
Anderson, H., Honkanen, L., Ruotanen, P. et al. Comprehensive genetic testing combined with citizen science reveals a recently characterized ancient MC1R mutation associated with partial recessive red phenotypes in dog. Canine Genet Epidemiol 7, 16 (2020). https://doi.org/10.1186/s40575-020-00095-7
Newton, J., Wilkie, A., He, L. et al. Melanocortin 1 receptor variation in the domestic dog. Incorporating Mouse Genome 11, 24–30 (2000). https://doi.org/10.1007/s003350010005