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 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...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | deu |
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BMC
2017-11-01
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| Series: | Genetics Selection Evolution |
| Online Access: | http://link.springer.com/article/10.1186/s12711-017-0359-5 |
| _version_ | 1818382575604858880 |
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| author | Caroline Morgenthaler Mathieu Diribarne Aurélien Capitan Rachel Legendre Romain Saintilan Maïlys Gilles Diane Esquerré Rytis Juras Anas Khanshour Laurent Schibler Gus Cothran |
| author_facet | Caroline Morgenthaler Mathieu Diribarne Aurélien Capitan Rachel Legendre Romain Saintilan Maïlys Gilles Diane Esquerré Rytis Juras Anas Khanshour Laurent Schibler Gus Cothran |
| author_sort | Caroline Morgenthaler |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-14T02:52:39Z |
| format | Article |
| id | doaj.art-8f0fd0b989574764964bc8a1f6e5b018 |
| institution | Directory Open Access Journal |
| issn | 1297-9686 |
| language | deu |
| last_indexed | 2024-12-14T02:52:39Z |
| publishDate | 2017-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Genetics Selection Evolution |
| spelling | doaj.art-8f0fd0b989574764964bc8a1f6e5b0182022-12-21T23:19:42ZdeuBMCGenetics Selection Evolution1297-96862017-11-0149111010.1186/s12711-017-0359-5A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horseCaroline Morgenthaler0Mathieu Diribarne1Aurélien Capitan2Rachel Legendre3Romain Saintilan4Maïlys Gilles5Diane Esquerré6Rytis Juras7Anas Khanshour8Laurent Schibler9Gus Cothran10UMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayUMR444, Laboratoire de Génétique Cellulaire, INRADepartment of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityDepartment of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityUMR1313, Génétique Animale et Biologie Intégrative, INRA, AgroParisTech, Université Paris-SaclayDepartment of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M UniversityAbstract 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.http://link.springer.com/article/10.1186/s12711-017-0359-5 |
| spellingShingle | Caroline Morgenthaler Mathieu Diribarne Aurélien Capitan Rachel Legendre Romain Saintilan Maïlys Gilles Diane Esquerré Rytis Juras Anas Khanshour Laurent Schibler Gus Cothran A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse Genetics Selection Evolution |
| title | A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse |
| title_full | A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse |
| title_fullStr | A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse |
| title_full_unstemmed | A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse |
| title_short | A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse |
| title_sort | missense variant in the coil1a domain of the keratin 25 gene is associated with the dominant curly hair coat trait crd in horse |
| url | http://link.springer.com/article/10.1186/s12711-017-0359-5 |
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