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

Autor: Diane Esquerre, Maïlys Gilles, Anas M. Khanshour, Romain Saintilan, Rytis Juras, Rachel Legendre, Mathieu Diribarne, Caroline Morgenthaler, Laurent Schibler, Aurélien Capitan, Gus Cothran
Přispěvatelé: Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Laboratoire de Génétique Cellulaire (LGC), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, AgroParisTech (FRANCE), Ecole Nationale Vétérinaire de Toulouse - ENVT (FRANCE), Institut National Polytechnique de Toulouse - Toulouse INP (FRANCE), Institut National de la Recherche Agronomique - INRA (FRANCE), Texas Scottish Rite Hospital for Children (USA), Texas A&M University (USA), ALLICE (FRANCE), Université Paris-Sud 11 (FRANCE), Génétique, Physiologie et Systèmes d’Elevage - GenPhySE (Toulouse, France), Institut National Polytechnique de Toulouse - INPT (FRANCE), Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)
Jazyk: angličtina
Rok vydání: 2017
Předmět:
0301 basic medicine
Heterozygote
Genotype
lcsh:QH426-470
040301 veterinary sciences
[SDV]Life Sciences [q-bio]
Population
Mutation
Missense
Locus (genetics)
Genome-wide association study
Biology
0403 veterinary science
03 medical and health sciences
Keratins
Hair-Specific
Sequence
Genetics
Animals
Humans
Horses
Allele
education
Génétique
Ecology
Evolution
Behavior and Systematics
Genetic association
lcsh:SF1-1100
education.field_of_study
Chromosomes
Human
Pair 11
Haplotype
Variation discovery
Bayes Theorem
04 agricultural and veterinary sciences
General Medicine
sequence
lcsh:Genetics
Phenotype
030104 developmental biology
variation discovery
Haplotypes
Mutation
Animal Science and Zoology
Allelic heterogeneity
lcsh:Animal culture
mutation
Autre (Sciences du Vivant)
Research Article
Genome-Wide Association Study
Zdroj: Genetics Selection Evolution
Genetics Selection Evolution, BioMed Central, 2017, 49 (1), pp.85. ⟨10.1186/s12711-017-0359-5⟩
Genetics Selection Evolution, Vol 49, Iss 1, Pp 1-10 (2017)
Genetics, Selection, Evolution : GSE
Genetics Selection Evolution 1 (49), Non paginé. (2017)
ISSN: 0999-193X
1297-9686
DOI: 10.1186/s12711-017-0359-5⟩
Popis: Background 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. Results 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. Conclusions 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. Electronic supplementary material The online version of this article (10.1186/s12711-017-0359-5) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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