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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    TheScientificWorldJournal
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References

SHOWING 1-10 OF 20 REFERENCES
Red coat color in Holstein cattle is associated with a deletion in the MSHR gene
TLDR
A direct test for determining the presence of the recessive allele causing red coat color in black Holstein cattle was attempted, assuming that the molecular basis of the bovine coat color phenotypes determined at the extension locus was similar to the one in horses and mice.
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination
TLDR
Three alleles of the MSH-receptor gene found in cattle are reported, with the wild-type allele E+ producing a variety of colors, reflecting the possibilities for regulating the normal receptor.
Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor
TLDR
It is reported here that dominant white pigs lack melanocytes in the skin, as would be anticipated for a KIT mutation, and the presence of a gene duplication in white pigs is confirmed.
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
TLDR
It is shown here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor, and that the Eso-3J receptor is constitutively activated, while the Etob receptor remains hormone responsive and produces a greater activation of its effector than does the wild-type allele.
Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans
TLDR
The findings suggest that in humans, as in other mammals, the MC1R is a control point in the regulation of pigmentation phenotype and, more importantly, that variations in this protein are associated with a poor tanning response.
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
TLDR
Given the heterogeneity of these mutations, most of them very rare, CFTR mutation screening still remains rather complex in the population, and population screening, whether desirable or not, does not appear to be technically feasible with the methods currently available.
A linkage group composed of three coat color genes and three serum protein loci in horses.
TLDR
The linkage of e and Es in the horse is proposed to be homologous to the loose linkage of the extension locus (e) and a cluster of esterase loci on chromosome 8 in the mouse, and on linkage group IV in the rabbit.
Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor
TLDR
Agouti protein is used to demonstrate that agouti is a high-affinity antagonist of the MSH receptor and blocks α-MSH stimulation of adenylyl cyclase, the effector through which α- MSH induces eumelanin synthesis.
Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
TLDR
The cloned cDNA encodes a 317 amino acid protein with transmembrane topography characteristics of a G‐protein‐coupled receptor, but it does not show striking similarity to already published sequences of other G‐ proteins of the melanotropin receptor family.
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
TLDR
Haplotyping suggests that the mutation in all five breeds of lean, heavily muscled swine has a common origin, and the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.
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