All horses with KRT25 variant are additionally hypotrichotic due to the KRT25 epistatic effect on SP6.Ĭurly horses present a variety of curl phenotypes that are associated with various degrees of curliness of coat, mane, tail and ear hairs.
In summary, genetic variants in two different genes, KRT25 and SP6, are responsible for curly hair. Thus, mutant KRT25 allele is masking SP6 allele effect, indicative for epistasis of KRT25 variant over SP6 variant. Horses with mutant alleles in both variants developed curly hair and hypotrichosis. Horses heterozygous or homozygous only for KRT25 variant showed curly coat and hypotrichosis, whereas horses with SP6 variant only, exhibited curly coat without hypotrichosis.
In this significantly associated region, six missense variants were filtered out from whole-genome sequencing data of three curly coated horses of which two variants within KRT25 and SP6 could explain all hair phenotypes. Genome-wide association analysis detected significant signals (p = 1.412 × 10-05-1.102 × 10-08) on horse chromosome 11 at 22-35 Mb. In our study, we aimed at investigating the genetic background of curly coat with and without hypotrichosis using high density bead chip genotype and next generation sequencing data. In some horses with curly coat, a hypotrichosis of variable extent was observed, making the phenotype appear more complex. Curly coat represents an extraordinary type of coat in horses, particularly seen in American Bashkir Curly Horses and Missouri Foxtrotters.
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