Dataset Information

A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.

ABSTRACT: Curly 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.A 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.We 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.

SUBMITTER: Morgenthaler C

PROVIDER: S-EPMC5686958 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.

Morgenthaler Caroline C Diribarne Mathieu M Capitan Aurélien A Legendre Rachel R Saintilan Romain R Gilles Maïlys M Esquerré Diane D Juras Rytis R Khanshour Anas A Schibler Laurent L Cothran Gus G

Genetics, selection, evolution : GSE 20171115 1

<h4>Background</h4>Curly 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) a ...[more]

PMID: 29141579

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Project description:BACKGROUND: The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a missense mutation associated with the Silver phenotype. RESULTS: Segregation data on the Silver locus (Z) were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. We typed 41 genetic markers well spread over the horse genome, including one single microsatellite marker (TKY284) close to the candidate gene PMEL17 on horse chromosome 6 (ECA6q23). Significant linkage was found between the Silver phenotype and TKY284 (theta = 0, z = 9.0). DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a missense mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys). This mutation showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 mutation. In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation. One additional mutation located in intron 9, only 759 bases from the missense mutation, also showed complete association with the Silver phenotype. However, as one could expect to find several non-causative mutations completely associated with the Silver mutation, we argue that the missense mutation is more likely to be causative. CONCLUSION: The present study shows that PMEL17 causes the Silver coat color in the horse and enable genetic testing for this trait.

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.

Dataset Information

A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.

Publications

A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.

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