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An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.

ABSTRACT: Curly coat represents an extraordinary type of coat in horses, particularly seen in American Bashkir Curly Horses and Missouri Foxtrotters. In some horses with curly coat, a hypotrichosis of variable extent was observed, making the phenotype appear more complex. 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. 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 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. Horses heterozygous or homozygous only for KRT25 variant showed curly coat and hypotrichosis, whereas horses with SP6 variant only, exhibited curly coat without hypotrichosis. Horses with mutant alleles in both variants developed curly hair and hypotrichosis. Thus, mutant KRT25 allele is masking SP6 allele effect, indicative for epistasis of KRT25 variant over SP6 variant. In summary, genetic variants in two different genes, KRT25 and SP6, are responsible for curly hair. All horses with KRT25 variant are additionally hypotrichotic due to the KRT25 epistatic effect on SP6.

SUBMITTER: Thomer A

PROVIDER: S-EPMC5913262 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.

Thomer Annika A Gottschalk Maren M Christmann Anna A Naccache Fanny F Jung Klaus K Hewicker-Trautwein Marion M Distl Ottmar O Metzger Julia J

Scientific reports 20180423 1

Curly coat represents an extraordinary type of coat in horses, particularly seen in American Bashkir Curly Horses and Missouri Foxtrotters. In some horses with curly coat, a hypotrichosis of variable extent was observed, making the phenotype appear more complex. 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. Genome-wide association analysis detected significant ...[more]

PMID: 29686323

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Project description:BackgroundExposure to horses can cause severe allergic reactions in sensitized individuals. The breed, American Bashkir Curly Horse is categorized as hypoallergenic, primarily due to reports of allergic patients experiencing fewer symptoms while handling this special breed. The possible reasons for this phenomenon could be lower allergen production and/or reduced allergen release into the air because of increased sebum content in their skin and hair compared to other breeds. Therefore, the aim of the current study was to compare different horse breeds in relation to allergen content in hair and airborne dust samples.MethodsIn total, 224 hair samples from 32 different horse breeds were investigated. Personal nasal filters were used to collect airborne dust during the grooming of 20 Curly Horses and 20 Quarter Horses. Quantitative analysis of all samples was performed using two newly developed immunoassays for the detection of horse dander (HD) antigens and the major allergen Equ c 1 and the commercial assay for Equ c 4. Results were analyzed using multiple linear regression models for hair samples and the Mann Whitney U test for airborne samples.ResultsHorse antigen and allergen levels differed up to four orders of magnitude between individual animals. Despite enormous variability, levels of HD antigen, Equ c 1 and Equ c 4 in hair were significantly related to the breed and gender combined with the castration status of male animals. Curly Horses had significantly higher concentrations of all three tested parameters compared to the majority of the investigated breeds (medians: 11800 μg/g for HD antigen, 2400 μg/g for Equ c 1, and 258 kU/g for Equ c 4). Tinker Horses, Icelandic Horses and Shetland Ponies were associated with approximately 7-fold reduced levels of HD antigen and Equ c 1, and up to 25-fold reduced levels of Equ c 4 compared to Curly Horses. Compared to mares, stallions displayed increased concentrations of HD antigens, Equ c 1 and Equ c 4 by a factor 2.2, 3.5 and 6.7, respectively. No difference was observed between mares and geldings. No differences in airborne allergen concentrations collected with personal nasal filters during grooming were found between Curly and Quarter Horses.ConclusionBreed and castration status had a significant influence on the antigen and allergen levels of horse hair. However, these differences were smaller than the wide variability observed among individual horses. Compared to other breeds, Curly Horses were not associated with lower allergen levels in hair and in air samples collected during grooming. Our approach provides no molecular explanation why Curly Horses are considered to be hypoallergenic.

Project description:BackgroundCurly horses present a variety of curl phenotypes that are associated with various degrees of curliness of coat, mane, tail and ear hairs. Their origin is still a matter of debate and several genetic hypotheses have been formulated to explain the diversity in phenotype, including the combination of autosomal dominant and recessive alleles. Our purpose was to map the autosomal dominant curly hair locus and identify the causal variant using genome-wide association study (GWAS) and whole-genome sequencing approaches.ResultsA GWAS was performed using a Bayesian sparse linear mixed model, based on 51 curly and 19 straight-haired French and North American horses from 13 paternal families genotyped on the Illumina EquineSNP50 BeadChip. A single strong signal was observed on equine chromosome 11, in a region that encompasses the type I keratin gene cluster. This region was refined by haplotype analysis to a segment including 36 genes, among which are 10 keratin genes (KRT-10, -12, -20, -23, -24, -25, -26, -27, -28, -222). To comprehensively identify candidate causal variants within all these genes, whole-genome sequences were obtained for one heterozygous curly stallion and its straight-haired son. Among the four non-synonymous candidate variants identified and validated in the curly region, only variant g.21891160G>A in the KRT25 gene (KRT25:p.R89H) was in perfect agreement with haplotype status in the whole pedigree. Genetic association was then confirmed by genotyping a larger population consisting of 353 horses. However, five discordant curly horses were observed, which carried neither the variant nor the main haplotype associated with curliness. Sequencing of KRT25 for two discordant horses did not identify any other deleterious variant, which suggests locus rather than allelic heterogeneity for the curly phenotype.ConclusionsWe identified the KRT25:p.R89H variant as responsible for the dominant curly trait, but a second dominant locus may also be involved in the shape of hairs within North American Curly horses.

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An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.

Publications

An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.

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