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[7] [13] [14] Without genetic testing, some carriers are misidentified as having white markings due to another gene, while some are even classified as solids. [3] The presence of this gene in a variety of horse populations in North America suggests that the mutation occurred in early American history, perhaps in a Spanish-type horse. [5] [6] [7]
In 1994, researchers at the University of Pittsburgh, with a grant from horse organizations, [1] isolated the genetic mutation responsible for the problem and developed a blood test for it. Using this test, horses may be identified as: H/H, meaning they have the mutation and it is homozygous. These horses always pass on the disease.
[16] [17] In horses, both known mutations break the protein and therefore result in red coats. Various mutations in the human MC1R gene result in red hair, blond hair, fair skin, and susceptibility to sunburnt skin and melanoma. [8] Polymorphisms of MC1R also lead to light or red coats in mice, [18] cattle, [19] and dogs, [20] among others.
A full accounting of this work, detailing the mapping and identification of a mutation in the gene coding for peptidylprolyl isomerase B, was published on May 11, 2007. [11] Concurrent with publication of these results, the Veterinary Genetics Laboratory at UC Davis began offering a genetic test to identify carriers of the disease allele.
Champagne is a dominant trait, based on a mutation in the SLC36A1 gene. [1] A horse with either one or two champagne genes will show the effects of the gene equally. However, if a horse is homozygous for a dominant gene, it will always pass the gene on to all of its offspring, while if the horse is heterozygous for the gene, the offspring will not always inherit the color.
Equine polysaccharide storage myopathy (EPSM, PSSM, EPSSM) is a hereditary glycogen storage disease of horses that causes exertional rhabdomyolysis.It is currently known to affect the following breeds American Quarter Horses, American Paint Horses, Warmbloods, Cobs, Dales Ponies, Thoroughbreds, Arabians, New Forest ponies, and a large number of Heavy horse breeds.
The cream gene is responsible for a number of horse coat colors. Horses that have the cream gene in addition to a base coat color that is chestnut will become palomino if they are heterozygous, having one copy of the cream gene, or cremello, if they are homozygous. Similarly, horses with a bay base coat and the cream gene will be buckskin or ...
The test was refined to identify the most likely mutations, and retesting of earlier samples based on an earlier indirect marker test developed by UCD, [9] indicated a 97% accuracy rate for the old test relative to the newer version, with no false negatives. [10] The causative mutation was identified on the gene TOE1 in 2011. [11]