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Home / Equine Research Bank / Genet Sel Evol / A missense variant in the coil1A domain of the keratin 25 ge...
Genetics, selection, evolution : GSE2017; 49(1); 85; doi: 10.1186/s12711-017-0359-5

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. 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.
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Publication Date: 2017-11-15 PubMed ID: 29141579PubMed Central: PMC5686958DOI: 10.1186/s12711-017-0359-5Google Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The study identifies a variant in the keratin 25 gene as the cause of curly hair traits in horses. Some curly horses, however, didn’t have this variant suggesting other factors may influence the hair shape of these animals.

Research Objective and Methods

  • The main purpose of this research was to map out the location of the autosomal dominant curly hair gene in horses and identify the exact causal variant. Researchers used a genome-wide association study (GWAS) and whole-genome sequencing approaches for this purpose.
  • The GWAS was conducted on 51 curly and 19 straight-haired French and North American horses belonging to 13 different families. These horses were genotyped on the Illumina EquineSNP50 BeadChip.
  • Using the GWAS data, a strong signal was identified on equine chromosome 11 – a region known to contain the type I keratin gene cluster. This initial location was further refined through haplotype analysis, bringing down the potential candidate genes to 36 – 10 of which were keratin genes.
  • To conclusively identify the causal variant, whole genome sequences of a heterozygous curly stallion and its straight-haired offspring were obtained.

Key Findings

  • Out of four non-synonymous candidate variants found in the curly region, only variant g.21891160G>A in the KRT25 gene (KRT25:p.R89H) showed a perfect match with the haplotypes observed in the entire pedigree used for the analysis.
  • This genetic association was confirmed after genotyping an expanded population of 353 horses.
  • However, five horses with curly hair did not carry either the identified variant or the haplotype associated with curliness, implying that the curliness trait in horses might be influenced by factors other than this specific keratin gene variant.
  • Analysis of the KRT25 gene in these discordant horses did not reveal any other detrimental variants, further supporting the hypothesis on locus heterogeneity (differences in the genetic location) for the curly hair trait.

Conclusions

  • The study concluded that the KRT25:p.R89H variant is responsible for the dominant curly hair trait in horses.
  • It also suggested that besides the identified variant, a second dominant locus could be influencing the hair shape in North American Curly horses – taking into cognizance the evidence from the five discordant curly horses.

Cite This Article

APA
Morgenthaler C, Diribarne M, Capitan A, Legendre R, Saintilan R, Gilles M, Esquerré D, Juras R, Khanshour A, Schibler L, Cothran G. (2017). A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse. Genet Sel Evol, 49(1), 85. https://doi.org/10.1186/s12711-017-0359-5

Publication

Genetics, selection, evolution : GSE
ISSN: 1297-9686
NlmUniqueID: 9114088
Country: France
Language: English
Volume: 49
Issue: 1
Pages: 85
PII: 85

Researcher Affiliations

Morgenthaler, Caroline
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
Diribarne, Mathieu
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
  • Département R&D, ALLICE, 149 rue de Bercy, 75595, Paris Cedex 12, France.
Capitan, Aurélien
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
  • Département R&D, ALLICE, 149 rue de Bercy, 75595, Paris Cedex 12, France.
Legendre, Rachel
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
Saintilan, Romain
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
  • Département R&D, ALLICE, 149 rue de Bercy, 75595, Paris Cedex 12, France.
Gilles, Maïlys
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
Esquerré, Diane
  • UMR444, Laboratoire de Génétique Cellulaire, INRA, Castanet-Tolosan, 31326, France.
Juras, Rytis
  • Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843, USA.
Khanshour, Anas
  • Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843, USA.
  • Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Schibler, Laurent
  • UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France. laurent.schibler@allice.fr.
  • Département R&D, ALLICE, 149 rue de Bercy, 75595, Paris Cedex 12, France. laurent.schibler@allice.fr.
Cothran, Gus
  • Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, 77843, USA.

MeSH Terms

  • Animals
  • Bayes Theorem
  • Chromosomes, Human, Pair 11 / genetics
  • Genome-Wide Association Study / methods
  • Genotype
  • Haplotypes / genetics
  • Heterozygote
  • Horses / genetics
  • Humans
  • Keratins, Hair-Specific / genetics
  • Mutation, Missense / genetics
  • Phenotype

Grant Funding

  • HippoFriz project / French Horse and Riding Institute (IFCE)
  • Curly project / International Curly Horse Organization (ICHOu00b0

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