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

@article{Marklund2009AMM,
  title={A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses},
  author={Lena Marklund and Maria Moller and Kaj Sandberg and L. Andersson},
  journal={Mammalian Genome},
  year={2009},
  volume={7},
  pages={895-899}
}
The melanocyte-stimulating hormone receptor gene (MCIR) 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. MCIR sequences were PCR amplified from chestnut (e/e) and non-chestnut (EI-) 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… 
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TLDR
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Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
  • Guang-Li Yang, D. Fu, +4 authors Yu-zhu Luo
  • Biology, Medicine
    TheScientificWorldJournal
  • 2013
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The results suggest that the mutations of MC1R gene are associated with black coat color phenotype in Chinese sheep.
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A nonsynonymous mutation is identified that results in the substitution of serine with phenylalanine at an evolutionarily highly conserved structural domain and implies that hypopigmented individuals are unlikely to suffer disproportionately from inbreeding depression, and hence, there is no reason to believe that they are at a selective disadvantage in the wider population.
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Genotyping and sequencing results, deviation from Hardy-Weinberg equilibrium, as well as allele copy number evaluation from semiquantitative fluorescent multiplex PCR, indicated the presence of copy number variation (CNV) in all investigated breeds.
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