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Home / Equine Research Bank / Mamm Genome / A missense mutation in the gene for melanocyte-stimulating h...
Mammalian genome : official journal of the International Mammalian Genome Society1996; 7(12); 895-899; doi: 10.1007/s003359900264

A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses.

Abstract: The melanocyte-stimulating hormone receptor gene (MC1R) is the major candidate gene for the chestnut coat color in horses since it is assumed to be controlled by an allele at the extension locus. MC1R sequences were PCR amplified from chestnut (e/e) and non-chestnut (E/-) horses. A single-strand conformation polymorphism was found that showed a complete association to the chestnut coat color among 144 horses representing 12 breeds. Sequence analysis revealed a single missense mutation (83Ser-->Phe) in the MC1R allele associated with the chestnut color. The substitution occurs in the second transmembrane region, which apparently plays a key role in the molecule since substitutions associated with coat color variants in mice and cattle as well as red hair and fair skin in humans are found in this part of the molecule. We propose that the now reported mutation is likely to be the causative mutation for the chestnut coat color. The polymorphism can be detected with a simple PCR-RFLP test, since the mutation creates a TaqI restriction site in the chestnut allele.
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Publication Date: 1996-12-01 PubMed ID: 8995760DOI: 10.1007/s003359900264Google Scholar: Lookup
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  • Journal Article

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 examines a specific genetic mutation linked to the chestnut coat color in horses, suggesting a simpler method for identifying this mutation.

Introduction

  • The research focuses on the melanocyte-stimulating hormone receptor gene (MC1R), which is thought to play a significant role in determining the chestnut coat color in horses.
  • The gene’s role is speculated to be controlled by an allele at the extension locus.
  • This study delves into the MC1R gene sequences, the mutations therein, and their correlation with the chestnut coat color in horses.

Methodology

  • MC1R sequences from both chestnut (represented by e/e) and non-chestnut horses (represented by E/-) were amplified through Polymerase Chain Reaction (PCR).
  • A single-strand conformation polymorphism was discovered which had a complete association with the chestnut coat color.
  • The study observed this association in a sample of 144 horses, encompassing 12 different breeds.
  • A sequence analysis exposed a single missense mutation (83Ser–>Phe) in the MC1R allele that is associated with the chestnut color.

Findings and Analysis

  • The mutation found is present in the second transmembrane region of the MC1R allele, a key part of the molecule.
  • The importance of this part of the molecule is backed by previous findings where substitutions linked with coat color variations in mice, cattle, and skin and hair color in humans were found.
  • The researchers propose that this mutation is likely the determining factor for the chestnut coat color in horses.

Significance and Application

  • The mutation’s detection has been rendered simpler through a PCR-Reaction Fragment Length Polymorphism (PCR-RFLP) test.
  • The mutation’s occurrence creates a TaqI restriction site in the chestnut allele, making identification straightforward and easy.
  • These findings, besides enhancing our understanding of genetic mutations, also simplify the genetic detection of coat color in horses.

Cite This Article

APA
Marklund L, Moller MJ, Sandberg K, Andersson L. (1996). A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm Genome, 7(12), 895-899. https://doi.org/10.1007/s003359900264

Publication

Mammalian genome : official journal of the International Mammalian Genome Society
ISSN: 0938-8990
NlmUniqueID: 9100916
Country: United States
Language: English
Volume: 7
Issue: 12
Pages: 895-899

Researcher Affiliations

Marklund, L
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Science, Uppsala, Sweden.
Moller, M J
    Sandberg, K
      Andersson, L

        MeSH Terms

        • Alleles
        • Amino Acid Sequence
        • Animals
        • Base Sequence
        • Cattle
        • DNA, Complementary
        • Hair Color / genetics
        • Horses / genetics
        • Humans
        • Mice
        • Molecular Sequence Data
        • Mutation
        • Polymorphism, Single-Stranded Conformational
        • Receptors, Pituitary Hormone / genetics
        • Sequence Homology, Amino Acid

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