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Home / Equine Research Bank / Genet Sel Evol / A mutation in the MATP gene causes the cream coat colour in ...
Genetics, selection, evolution : GSE2003; 35(1); 119-133; doi: 10.1186/1297-9686-35-1-119

A mutation in the MATP gene causes the cream coat colour in the horse.

Abstract: In horses, basic colours such as bay or chestnut may be partially diluted to buckskin and palomino, or extremely diluted to cream, a nearly white colour with pink skin and blue eyes. This dilution is expected to be controlled by one gene and we used both candidate gene and positional cloning strategies to identify the "cream mutation". A horse panel including reference colours was established and typed for different markers within or in the neighbourhood of two candidate genes. Our data suggest that the causal mutation, a G to A transition, is localised in exon 2 of the MATP gene leading to an aspartic acid to asparagine substitution in the encoded protein. This conserved mutation was also described in mice and humans, but not in medaka.
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Publication Date: 2003-02-28 PubMed ID: 12605854PubMed Central: PMC2732686DOI: 10.1186/1297-9686-35-1-119Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • 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.

The research study identifies a single gene mutation that causes the cream coat color in horses.

Objective of Study

  • The primary objective of this research was to identify the gene responsible for the dilution of basic coat colors in horses leading to cream colored coats.

Approach and Methodology

  • Researchers used both candidate gene and positional cloning strategies to detect this variant, known as “cream mutation”.
  • In the study a horse panel including various reference colors was created and typed for different genetic markers relevant to two candidate genes.

    • Results

    • Results suggested that the mutation responsible for the dilution is a G to A transition located in exon 2 of the MATP gene.
    • This mutation causes an aspartic acid to asparagine substitution in the protein encoded by the gene.
    • The same mutation was also found in mice and human genomes but was absent in Medaka, a small fish used as a model organism in genetics.

    Significance of the Findings

    • The discovery of the mutation responsible for the cream coat in horses has important implications for our understanding of genetic control of coat color in mammals.
    • This finding provides valuable insights for horse breeders, enabling them to make more informed breeding choices.
    • Additionally, understanding these genetic mechanisms can contribute to human genetic research, especially because this mutation is also found in humans.

Cite This Article

APA
Mariat D, Taourit S, Guérin G. (2003). A mutation in the MATP gene causes the cream coat colour in the horse. Genet Sel Evol, 35(1), 119-133. https://doi.org/10.1186/1297-9686-35-1-119

Publication

Genetics, selection, evolution : GSE
ISSN: 0999-193X
NlmUniqueID: 9114088
Country: France
Language: English
Volume: 35
Issue: 1
Pages: 119-133

Researcher Affiliations

Mariat, Denis
  • Laboratoire de génétique biochimique et de cytogénétique, Département de génétique animale, Institut national de la recherche agronomique, Centre de Recherche de Jouy, 78352 Jouy-en-Josas Cedex, France. mariat@diamant.jouy.inra.fr
Taourit, Sead
    Guérin, Gérard

      MeSH Terms

      • Animals
      • Chromosome Mapping
      • Chromosomes, Artificial, Bacterial
      • DNA Primers / genetics
      • Hair Color / genetics
      • Horses / genetics
      • Linkage Disequilibrium
      • Microsatellite Repeats / genetics
      • Mutation / genetics
      • Proteins / genetics
      • Skin Pigmentation / genetics

      Citations

      This article has been cited 37 times.
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