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Novel insights into Sabino1 and splashed white coat color patterns in horses.
Abstract: Within the framework of genome-wide analyses using the novel Axiom® genotyping array, we investigated the distribution of two previously described coat color patterns, namely sabino1 (SBI), associated with the KIT gene (KI16+1037A), and splashed white, associated with the PAX3 gene (ECA6:g.11429753C>T; PAX3C70Y ), including a total of 899 horses originating from eight different breeds (Achal Theke, Purebred Arabian, Partbred Arabian, Anglo-Arabian, Shagya Arabian, Haflinger, Lipizzan and Noriker). Based on the data we collected we were able to demonstrate that, besides Quarter horses, the PAX3C70Y allele is also present in Noriker (seven out of 189) and Lipizzan (three out of 329) horses. The SB1 allele was present in three breeds (Haflinger, 14 out of 98; Noriker, four out of 189; Lipizzan one out of 329). Furthermore, we examined the phenotypes of SB1- and PAX3C70Y -carrier horses for their characteristic white spotting patterns. None of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current applied protocols. From 10 heterozygous PAX3C70Y -carrier horses, two had nearly a splashed white phenotype. The results of this large-scale experiment on the genetic association of white spotting patterns in horses underline the influence of gene interactions and population differences on complex traits such as Sabino1 and splashed white.
© 2018 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.
Publication Date: 2018-04-10 PubMed ID: 29635692PubMed Central: PMC6001536DOI: 10.1111/age.12657Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
Summary
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This research paper investigates the genetic basis of two distinct coat color patterns in horses: sabino1, related to the KIT gene, and splashed white, related to the PAX3 gene. Conducted across eight different horse breeds, the researchers found that, besides Quarter horses, the PAX3 allele exists also in Noriker and Lipizzan horses, while the SB1 allele was found in Haflinger, Noriker and Lipizzan breeds. Furthermore, the existence of white spotting patterns and their relation to these identified genes were examined and discussed.
Genetic Analysis of Coat Color Patterns in Horses
- The research included genome-wide analyses using the novel Axiom genotyping array, which allowed the detection of specific genes associated to the coat color patterns in the horse breeds studied.
- The sabino1 (SBI) and splashed white patterns were the main focus of the study, associated with the KIT and PAX3 genes, respectively.
- The study focused on eight different horse breeds, including the Achal Theke, Purebred Arabian, Partbred Arabian, Anglo-Arabian, Shagya Arabian, Haflinger, Lipizzan and Noriker.
Findings of the Study
- The PAX3 allele, associated to the splashed white pattern, was found in Quarter horses as well as in Noriker and Lipizzan horses.
- The SB1 allele, associated to the sabino1 pattern, was detected in Haflinger, Noriker and Lipizzan breeds.
- The authors also noted that none of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current protocols. This suggests that further research is required to adjust existing criteria or explore other potential genetic factors involved.
- Similarly, from the 10 PAX3-carrier horses, only two showed a significant splashed white phenotype, indicating a complex association between this gene and the coat pattern.
Conclusion and Further Implications
- The study highlights the influence of gene interactions and population differences on complex traits such as the Sabino1 and splashed white patterns.
- The presence of the PAX3 allele in horse breeds other than Quarter horses suggests a wider distribution of this gene among horse populations.
- The mismatch between the observed phenotypes and the genetic patterns indicate more research is needed to understand the entire spectrum of genetic factors influencing these coat patterns.
Cite This Article
APA
Druml T, Grilz-Seger G, Neuditschko M, Horna M, Ricard A, Pausch H, Brem G.
(2018).
Novel insights into Sabino1 and splashed white coat color patterns in horses.
Anim Genet, 49(3), 249-253.
https://doi.org/10.1111/age.12657 Publication
Researcher Affiliations
- Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
- Pöckau 41, A-9601, Arnoldstein, Austria.
- Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
- Agroscope, Swiss National Stud Farm, Les Longs Prés, CH-1580, Avenches, Switzerland.
- Department of Animal Husbandry, Slovak University of Agriculture in Nitra, Tr. A. Hlinku 2, 949 76, Nitra, Slovak Republic.
- UMR 1313 Génétique Animale et Biologie Intégrative, Institut National de la Recherche Agronomique, Domaine de Vilvert, Bat 211, 78352, Jouy-en-Josas, France.
- Institut Français du Cheval et de l'Equitation, Recherche et Innovation, La Jumenterie du Pin, 61310, Exmes, France.
- Animal Genomics, ETH Zürich, CH-8092, Zürich, Switzerland.
- Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
MeSH Terms
- Adaptor Proteins, Signal Transducing / genetics
- Alleles
- Animals
- Breeding
- Genetic Association Studies
- Hair Color / genetics
- Heterozygote
- Horses / genetics
- PAX3 Transcription Factor / genetics
- Phenotype
- Pigmentation / genetics
References
This article includes 12 references
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Citations
This article has been cited 4 times.- Dai D, Sari EM, Si J, Ashari H, Dagong MIA, Pauciullo A, Lenstra JA, Han J, Zhang Y. Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes. BMC Genomics 2024 Jul 24;25(1):713.
- Ward JA, Ng'ang'a SI, Randhawa IAS, McHugo GP, O'Grady JF, Flórez JM, Browne JA, Pérez O'Brien AM, Landaeta-Hernández AJ, Garcia JF, Sonstegard TS, Frantz LAF, Salter-Townshend M, MacHugh DE. Genomic insights into the population history and adaptive traits of Latin American Criollo cattle. R Soc Open Sci 2024 Mar;11(3):231388.
- Avila F, Hughes SS, Magdesian KG, Penedo MCT, Bellone RR. Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds. Genes (Basel) 2022 Sep 13;13(9).
- Magdesian KG, Tanaka J, Bellone RR. A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse. J Hered 2020 May 20;111(3):287-293.
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