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Home / Equine Research Bank / PLoS Genet / Missense mutation in exon 2 of SLC36A1 responsible for champ...
PLoS genetics2008; 4(9); e1000195; doi: 10.1371/journal.pgen.1000195

Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.

Abstract: Champagne coat color in horses is controlled by a single, autosomal-dominant gene (CH). The phenotype produced by this gene is valued by many horse breeders, but can be difficult to distinguish from the effect produced by the Cream coat color dilution gene (CR). Three sires and their families segregating for CH were tested by genome scanning with microsatellite markers. The CH gene was mapped within a 6 cM region on horse chromosome 14 (LOD = 11.74 for theta = 0.00). Four candidate genes were identified within the region, namely SPARC [Secreted protein, acidic, cysteine-rich (osteonectin)], SLC36A1 (Solute Carrier 36 family A1), SLC36A2 (Solute Carrier 36 family A2), and SLC36A3 (Solute Carrier 36 family A3). SLC36A3 was not expressed in skin tissue and therefore not considered further. The other three genes were sequenced in homozygotes for CH and homozygotes for the absence of the dilution allele (ch). SLC36A1 had a nucleotide substitution in exon 2 for horses with the champagne phenotype, which resulted in a transition from a threonine amino acid to an arginine amino acid (T63R). The association of the single nucleotide polymorphism (SNP) with the champagne dilution phenotype was complete, as determined by the presence of the nucleotide variant among all 85 horses with the champagne dilution phenotype and its absence among all 97 horses without the champagne phenotype. This is the first description of a phenotype associated with the SLC36A1 gene.
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Publication Date: 2008-09-19 PubMed ID: 18802473PubMed Central: PMC2535566DOI: 10.1371/journal.pgen.1000195Google Scholar: Lookup
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  • Journal Article
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  • Non-U.S. Gov't

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 article explores the genetics behind the Champagne coat color in horses and identifies a single gene mutation responsible for this trait.

Research Overview

  • The study was motivated by the unique and highly prized Champagne coat color in horses, known to be regulated by a single, dominant gene (CH), but often difficult to distinguish from effects produced by another gene, the Cream coat color dilution gene (CR).
  • The researchers used gene scanning techniques to trace the CH gene’s location and its expression pattern.
  • The gene was found within a specific region on horse chromosome 14 and was further narrowed down to four potential candidate genes.

Methodology

  • The CH gene’s exact location was found through genome scanning techniques using microsatellite markers.
  • Three sire families segregating for the CH gene were tested.
  • Four potential candidate genes were identified within the region: SPARC, SLC36A1, SLC36A2, and SLC36A3.
  • SLC36A3 was eliminated from consideration as it wasn’t expressed in skin tissue, a requirement for affecting coat color.
  • The remaining three genes were individually sequenced in horses specifically bred for this coat color (homozygotes for CH and homozygotes for the absence of the dilution allele).

Findings

  • Among the candidate genes, researchers found that the SLC36A1 gene had undergone a specific nucleotide substitution in exon 2 in horses with the Champagne coat color.
  • This mutation involved a transition from a threonine amino acid to an arginine amino (T63R).
  • Researchers found a perfect association between this single nucleotide polymorphism (SNP) and the Champagne dilution phenotype across the sample.
  • The mutated version of the gene was present in all 85 horses with the Champagne dilution phenotype and was absent in all 97 horses without the phenotype, strongly suggesting that this mutation was responsible for the Champagne coat color.

Conclusion

  • This study presented the first description of a phenotype associated with the SLC36A1 gene.
  • The findings significantly enhance understanding of the genetics underlying coat color variations in horses, and could potentially inform breeding strategies to promote this cherished phenotype.

Cite This Article

APA
Cook D, Brooks S, Bellone R, Bailey E. (2008). Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS Genet, 4(9), e1000195. https://doi.org/10.1371/journal.pgen.1000195

Publication

PLoS genetics
ISSN: 1553-7404
NlmUniqueID: 101239074
Country: United States
Language: English
Volume: 4
Issue: 9
Pages: e1000195
PII: e1000195

Researcher Affiliations

Cook, Deborah
  • Department of Veterinary Science, MH Gluck Equine Research Center, University of Kentucky, Lexington, Kentucky, United States of America. deborah.cook@uky.edu
Brooks, Samantha
    Bellone, Rebecca
      Bailey, Ernest

        MeSH Terms

        • Amino Acid Sequence
        • Amino Acid Transport Systems / genetics
        • Amino Acid Transport Systems / metabolism
        • Animals
        • Base Sequence
        • Exons
        • Female
        • Genes, Dominant
        • Genetic Linkage
        • Hair Color / genetics
        • Horses / genetics
        • Horses / metabolism
        • Male
        • Molecular Sequence Data
        • Mutation, Missense
        • Phenotype
        • Polymorphism, Single Nucleotide
        • Sequence Alignment
        • Symporters / genetics
        • Symporters / metabolism

        Conflict of Interest Statement

        The authors have declared that no competing interests exist.

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        Citations

        This article has been cited 20 times.
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