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Home / Equine Research Bank / PLoS Genet / Allelic heterogeneity at the equine KIT locus in dominant wh...
PLoS genetics2007; 3(11); e195; doi: 10.1371/journal.pgen.0030195

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.

Abstract: White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from approximately 50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of the approximately 82 kb equine KIT gene. A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). We analyzed the KIT exons in horses characterized as dominant white from other populations and found three additional candidate causative mutations. Three almost completely white Arabians carried a different nonsense mutation in exon 4 (c.706A>T, p.K236X). Six Camarillo White Horses had a missense mutation in exon 12 (c.1805C>T, p.A602V), and five white Thoroughbreds had yet another missense mutation in exon 13 (c.1960G>A, p.G654R). Our results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations.
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Publication Date: 2007-11-14 PubMed ID: 17997609PubMed Central: PMC2065884DOI: 10.1371/journal.pgen.0030195Google Scholar: Lookup
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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 research article centers around the investigation of dominant white (W) horses’ varying degrees of depigmentation. The researchers analyzed certain genetic mutations in different horse populations and conclude that various independent mutations within the KIT gene account for the dominant white in several modern horse populations.

Objectives and Methods of Research

  • The main objective of this research was to investigate the genetic variations in dominant white horses and their depigmentation levels. This is significant as white coat color has been highly valued for at least 2,000 years in horses.
  • The researchers focused on the KIT gene, which is associated with four depigmentation phenotypes in horses: roan, sabino, tobiano, and dominant white. The gene is located in a particular chromosomal region on ECA 3.
  • By determining the genomic organization and sequence of the approximately 82 kb equine KIT gene, the researchers provided a foundation for the mutation analysis performed later in the study.
  • The researchers performed a mutation analysis on all 21 KIT exons in white Franches-Montagnes Horses, which revealed a particular mutation (nonsense mutation in exon 15).

Key Findings

  • The mutation analysis revealed three additional mutations in horses categorized as dominant white from other populations.
  • Three nearly completely white Arabians had a different nonsense mutation in exon 4, while six Camarillo White Horses presented a missense mutation in exon 12.
  • Five white Thoroughbreds possessed another missense mutation in exon 13. A missense mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
  • The results imply that the white coat color in Franches-Montagnes Horses originates from a mutation in the KIT gene.
  • The researchers conclude that multiple independent mutations within the KIT gene account for dominant white in several modern horse populations.

Implications of research

  • The findings from this study shed light on the genetic variations responsible for dominant white coloring in different horse populations. By identifying the specific mutations in the KIT gene contributing to these color variations, the research offers insight into the genetics of coat color in horses.
  • This research can be instrumental in future studies exploring depigmentation phenotypes or white coat color genetics in horses. It can also contribute to broader genetic studies involving other species.

Cite This Article

APA
Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T. (2007). Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet, 3(11), e195. https://doi.org/10.1371/journal.pgen.0030195

Publication

PLoS genetics
ISSN: 1553-7404
NlmUniqueID: 101239074
Country: United States
Language: English
Volume: 3
Issue: 11
Pages: e195
PII: e195

Researcher Affiliations

Haase, Bianca
  • Institute of Genetics, Vetsuisse Faculty, University of Berne, Berne, Switzerland.
Brooks, Samantha A
    Schlumbaum, Angela
      Azor, Pedro J
        Bailey, Ernest
          Alaeddine, Ferial
            Mevissen, Meike
              Burger, Dominik
                Poncet, Pierre-André
                  Rieder, Stefan
                    Leeb, Tosso

                      MeSH Terms

                      • Alleles
                      • Animals
                      • Base Sequence
                      • Blotting, Western
                      • Breeding
                      • Cytosine
                      • DNA Mutational Analysis
                      • Genes, Dominant
                      • Genetic Heterogeneity
                      • Genome
                      • Guanine
                      • Horses / genetics
                      • Molecular Sequence Data
                      • Phenotype
                      • Polymorphism, Genetic
                      • Proto-Oncogene Proteins c-kit / genetics
                      • Skin / metabolism

                      Conflict of Interest Statement

                      Competing interests. The authors have declared that no competing interests exist.

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                      Citations

                      This article has been cited 31 times.
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