Abstract
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 → Phe) in the MCIR 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.
This is a preview of subscription content, access via your institution.
References
Adalsteinsson, S. (1974). Inheritance of the palomino color in Icelandic horses. J. Hered. 65, 15–20.
Andersson, L., Sandberg, K. (1982). A linkage group composed of three coat color genes and three serum protein loci in horses. J. Hered. 73, 91–94.
Chhajlani, V., Wikberg, J.E.S. (1992). Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309, 417–420.
Cuppens, H., Marynen, P., De Boeck, C, Cassiman, J.-J. (1993). Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the compete coding region and exon/ intron junctions of the CFTR gene. Genomics 18, 693–697.
Fujii, J., Otsu, K., Zorzato, F., De Leon, S., Khanna, V.K., Weiler, J.E., O’Brien, P.J., MacLennan, D.H. (1991). Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 253, 448–451.
Hurst, C.C. (1906). On the inheritance of coat colour in horses. Proc. Roy. Soc. 77, 388–394.
Jackson, I.J. (1993). Colour-coded switches. Nature 362, 587–588.
Jackson, I.J. (1994). Molecular and developmental genetics of mouse coat color. Annu. Rev. Gent. 28, 189–217.
Janke, A., Feldmaier-Fuchs, G., Kelley Thomas, W., von Haesler, A., Pääbo, S. (1994). The marsupial mitochondrial genome and the evolution of placental mammals. Genetics 137, 243–256.
Joerg, H., Fries, H.R., Meijerink, E., Stranzinger, G.F. (1996). Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mamm. Genome 7, 317–318.
Johansson, M., Marklund, L., Sandberg, K., Andersson, L. (1994). Cosegregation between the chestnut coat colour in horses and polymorphisms at the melanocyte stimulating hormone (MSH) receptor locus. Anim. Genet. 25 (suppl):35.
Johansson Moller, M., Chaudhary, R., Hellmén, E., Höyheim, B., Chowdhary, B., Andersson, L. (1996). Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/ stem cell growth factor receptor. Mamm. Genome, in press.
Klungland, H., Våge, D.I., Gomez-Raya, L., Adalsteinsson, S., Lien, S. (1995). The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm. Genome 6, 636–639.
Kriegesmann, B., Jansen, S., Bishop, M., Brenig, B. (1996). The equine MSH-R TaqI RFLP is not informative for hair colour in Arabian horses. Anim. Genet. 27, 64.
Kumar, S., Tamura, K., Nei, M. (1993). MEGA: Molecular Evolutionary Genetics Analysis, version 1.0. (University Park, Pa.: The Pennsylvania State University.)
Lu, D., Willard, D., Patel, I.R., Kadwell, S., Overton, L., Kost, T., Luther, M., Chen, W., Woychik, R.P., Wilkison, W.O., Cone, R.D. (1994). Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371, 799–802.
Marklund, S., Chaudhary, R., Marklund, L., Sandberg, K., Andersson, L. (1995). Extensive mtDNA diversity in horses revealed by PCR-SSCP analysis. Anim. Genet. 26, 193–196.
Mountjoy, K.G., Robbins, L.S., Mortrud, M.T., Cone, R.D. (1992). The cloning of a family of genes that encode the melanocortin receptors. Science 257, 1248–1251.
Robbins, L.S., Nadeau, J.H., Johnson, K.R., Kelly, M.A., Roselli-Rehfuss, L., Baack, E., Mountjoy, K.G., Cone, R.D. (1993). Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72, 827–834.
Valverde, P., Healy, E., Jackson, I., Rees, J.L., Thody, A.J. (1995). Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11, 328–330.
Author information
Authors and Affiliations
Additional information
The nucleotide sequence data reported in this paper have been submitted to GenBank and have been assigned the accession number X98012.
Rights and permissions
About this article
Cite this article
Marklund, L., Moller, M.J., Sandberg, K. et al. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses. Mammalian Genome 7, 895–899 (1996). https://doi.org/10.1007/s003359900264
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/s003359900264
Keywords
- Cystic Fibrosis Transmembrane Conductance Regulator
- Coat Color
- Chestnut Horse
- Fair Skin
- Icelandic Horse