istic characteristics of chestnut genetics. The skin will darken as the foal becomes older. Skin depigmentation is not always seen in chestnut foals. The chestnut or sorrel color, genetically considered "red", is caused by one of two
recessive alleles at the
extension locus (genetics).
Extension has three known alleles: the
wildtype "E", necessary for the
bay and
black coat colors, plus two
mutations "e" and "ea", both of which are capable of causing the chestnut color. Each individual horse has two copies of the
extension gene. If either copy is "E", then the horse will be bay- or black-based. But if the two copies are any combination of "e" and "ea" (e/e, e/ea, or ea/ea), then the horse will be red-based. Alternate extension "ea" is rare and there is no known difference in appearance between it and the more common "e". Because the red color is recessive, two bay or black parents can produce a chestnut foal if both carry "e" or "ea". However, two chestnut parents cannot produce a bay or black foal. The
extension locus (genetics) is found on
chromosome 3 (ECA3) and is part of the gene that codes for the equine
melanocortin 1 receptor (MC1R). This receptor is part of a signalling pathway which when activated causes
melanocytes to produce
eumelanin, or black pigment, instead of
pheomelanin, or red pigment. The two mutant alleles "e" and "ea" code for dysfunctional receptors unable to activate this pathway, so absent "E", only red pigment can be produced. At least one copy of the functional "E" allele is required to activate the signal and produce black pigment. In general, alleles that create fully functional MC1R proteins are inherited
dominantly and result in a black-based coat color ("E"), while mutated alleles that create "dysfunctional" MC1R are recessive and result in a lighter coat color ("e"). Normally MC1R would bind to the
Melanocyte-stimulating hormone (MSH) which is released by the
pituitary gland which results in a protein that cannot bind to MSH. When only mutant copies ("e) of the gene are available, non-functional MC1R proteins are produced. As a result, no black pigment is deposited into the hair and the entire coat is red-based. However, the skin of chestnut horses is still generally black, unless affected by other genes. Some chestnut foals are also born with lighter eyes and lightened skin, which darken not long after birth. This is not the same as the blue eyes and pink skin seen at birth in foals carrying the
champagne gene. It is a genetic mechanism not fully understood, but may be related to the pheomelanistic characteristics of "e". Though "E" allows the production of black pigment, it can also allow for red pigment in some parts of the animal as seen in
bay horses. This happens when it is locally
antagonized by the
agouti signalling peptide (ASIP), or
agouti gene, which "suppresses" black color and allows some red pigment to be formed. ==See also==