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PloS one2013; 8(9); e75071; doi: 10.1371/journal.pone.0075071

Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.

Abstract: Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white facial and leg markings using a standardized scoring system. A genome-wide association study (GWAS) was performed for several white patterning traits in 1,077 FM horses. Seven quantitative trait loci (QTL) affecting the white marking score with p-values p≤10(-4) were identified. Three loci, MC1R and the known white spotting genes, KIT and MITF, were identified as the major loci underlying the extent of white patterning in this breed. Together, the seven loci explain 54% of the genetic variance in total white marking score, while MITF and KIT alone account for 26%. Although MITF and KIT are the major loci controlling white patterning, their influence varies according to the basic coat color of the horse and the specific body location of the white patterning. Fine mapping across the MITF and KIT loci was used to characterize haplotypes present. Phylogenetic relationships among haplotypes were calculated to assess their selective and evolutionary influences on the extent of white patterning. This novel approach shows that KIT and MITF act in an additive manner and that accumulating mutations at these loci progressively increase the extent of white markings.
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Publication Date: 2013-09-30 PubMed ID: 24098679PubMed Central: PMC3787084DOI: 10.1371/journal.pone.0075071Google 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.

This research paper primarily investigates the genetic basis for the occurrence of white markings on the coats of the Franches-Montagnes horse breed. The study found seven specific genetic traits that accounted for 54% of the variance in total white marking score, with two traits, KIT and MITF, accounting for 26% alone.

Background and Methodology

  • Coat color and pattern variations in domestic animals are sometimes simple monogenic traits, meaning they are controlled by one gene. However, many of these traits have a more complex genetic basis.
  • The researchers used the reduced haplotypic diversity in domestic animal populations as a framework to understand genomic interactions that influence complex phenotypes, in this case, the occurrence of white facial and leg markings in horses.
  • The horse breed studied, Franches-Montagnes, were scored using a standardized system for the prevalence of white facial and leg markings.
  • A genome-wide association study (GWAS), a study type that scans the genomes of multiple individuals to find genetic variations associated with a particular trait, was performed on 1,077 horses of this breed.

Findings

  • The GWAS identified seven quantitative traits (loci) that affected the white marking score. Three of them were named as crucial loci underlying the extent of white patterning: MC1R, KIT, and MITF.
  • These seven loci together explain 54% of the genetic variance in the total white marking score.
  • The genes KIT and MITF alone accounted for 26% of this variance, revealing their significant role in controlling the extent of white markings on the horse’s coat.

Further Analysis and Conclusion

  • Fine mapping of these identified loci helped characterize the present haplotypes (combinations of alleles within an organism’s DNA).
  • By calculating the phylogenetic relationships among these haplotypes, the researchers could assess the evolutionary impact and selective influences these haplotypes had on the extent of white patterning.
  • The study found that KIT and MITF functioned additively, meaning mutations accumulated progressively at these loci increasing the extent of the white markings.
  • The impact of MITF and KIT varied depending on the horse’s basic coat color and the specific anatomical location of the white patterning.

Cite This Article

APA
Haase B, Signer-Hasler H, Binns MM, Obexer-Ruff G, Hauswirth R, Bellone RR, Burger D, Rieder S, Wade CM, Leeb T. (2013). Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses. PLoS One, 8(9), e75071. https://doi.org/10.1371/journal.pone.0075071

Publication

PloS one
ISSN: 1932-6203
NlmUniqueID: 101285081
Country: United States
Language: English
Volume: 8
Issue: 9
Pages: e75071
PII: e75071

Researcher Affiliations

Haase, Bianca
  • Faculty of Veterinary Science, University of Sydney, Sydney, New South Wales, Australia ; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Signer-Hasler, Heidi
    Binns, Matthew M
      Obexer-Ruff, Gabriela
        Hauswirth, Regula
          Bellone, Rebecca R
            Burger, Dominik
              Rieder, Stefan
                Wade, Claire M
                  Leeb, Tosso

                    MeSH Terms

                    • Animals
                    • Genome-Wide Association Study
                    • Genotype
                    • Hair Color / genetics
                    • Hair Color / physiology
                    • Horses / genetics
                    • Linkage Disequilibrium
                    • Logistic Models
                    • Microphthalmia-Associated Transcription Factor / genetics
                    • Mutation / genetics
                    • Phenotype
                    • Phylogeny
                    • Proto-Oncogene Proteins c-kit / genetics
                    • Quantitative Trait Loci / genetics

                    Conflict of Interest Statement

                    The co-author Matthew M. Binns is affiliated with Equine Analysis. There are no patents, products in development or marketed products to declare. This does not alter the authors’ adherence to all the PLOS ONE policies on sharing data and materials.

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                    Citations

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