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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 and Diribarne, Mathieu and Capitan, Aurélien and Legendre, Rachel and Saintilan, Romain and Gilles, Maïlys and Esquerré, Diane and Juras, Rytis and Khanshour, Anas and Schibler, Laurent and Cothran, Gus A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse. (2017) Genetics Selection Evolution, 49 (85). 1-10. ISSN 0999-193X

(Document in English)

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Official URL: https://doi.org/10.1186/s12711-017-0359-5


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 straighthaired French and North American horses from 13 paternal families genotyped on the Illumina EquineSNP50 Bead-Chip. 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 straighthaired 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.

Item Type:Article
Additional Information:Thanks to EDP Sciences editor. The original PDF of the article can be found at Genetics Selection Evolution website : https://gsejournal.biomedcentral.com/articles/10.1186/s12711-017-0359-5
ProdINRA Id:418581
Audience (journal):International peer-reviewed journal
Uncontrolled Keywords:
Institution:Other partners > AgroParisTech (FRANCE)
Université de Toulouse > Ecole Nationale Vétérinaire de Toulouse - ENVT (FRANCE)
Université de Toulouse > Institut National Polytechnique de Toulouse - Toulouse INP (FRANCE)
French research institutions > Institut National de la Recherche Agronomique - INRA (FRANCE)
Other partners > Texas Scottish Rite Hospital for Children (USA)
Other partners > Texas A&M University (USA)
Other partners > ALLICE (FRANCE)
Other partners > Université Paris-Sud 11 (FRANCE)
Laboratory name:
Deposited On:21 Feb 2018 17:32

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