Variations of Melanocortin Receptor 1 (MC1R) Gene in Three Pig Breeds

Guiling Dun; Xianglong Li; Hongzhan Cao; Rongyan Zhou; Lanhui Li

doi:10.1016/S1673-8527(07)60088-5

Volume 34 Issue 9

Sep. 2007

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Variations of Melanocortin Receptor 1 (MC1R) Gene in Three Pig Breeds

doi: 10.1016/S1673-8527(07)60088-5

Department of Animal Science, College of Animal Science and Technology, Agricultural University of Hebei, Baoding 071000, China

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Corresponding author: E-mail address: lixianglongcn@yahoo.com (Xianglong Li)
Received Date: 2007-03-30
Accepted Date: 2007-04-16

Available Online: 2007-09-18

Publish Date: 2007-09-20

Abstract

Abstract

Variations of Melanocortin Receptor 1 (MC1R) were investigated using sequencing, PCR-RFLP and PCR-SSCP, in three pig breeds, Landrace, Yorkshire, and Duroc. Five polymorphic sites were found, in which 668G→C occurred within 5′ UTR, nt894insCC in coding region resulting in a premature stop at codon 56, and 1318C→T, 1554G→A, 1197G→A in coding region resulting in Ala164Val, Ala243Thr, and Asp124Asn respectively. All individuals in Landrace and Yorkshire present homozygous 668GG, 1197AA, 1318CC, and 1554GG, and have CC insertions at the 894 site, whereas the individuals in Duroc present a contrast homozygous 668CC, 1197GG, 1318TT, and 1554AA, and have no CC insertions at the corresponding site. No heterozygote has been found at these mutation sites. Presumably, 668G→C, 1318C→T, and 1554G→A may be associated with the recessive red color in the Duroc breed, and nt894insCC making 1197G→A nonsense may be associated with the white color in Landrace and Yorkshire breeds.
- pig,
- variation,
- coat color

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References(27)

References

[1]	NF, Box, DL, et al. Am J Hum Genet, 69 (2001),pp. 765-773
[2]	NF, Box, DL, et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma J Invest Dermatol, 116 (2001),pp. 224-229
[3]	N, Flanagan, E, Healy, A, Ray, S, Philips, C, Todd, IJ, Jackson, MA, Birch-Machin, JL., Rees Hum Mol Gene, 9 (2000),pp. 2531-2537
[4]	RM, Harding, E, et al. Am J Hum Genet, 66 (2000),pp. 1351-1361
[5]	BK, Rana, D, et al. High polymorphism at the human melanocortin 1 receptor locus Genetics, 151 (1999),pp. 1547-1557
[6]	LS, Robbins, JH, et al. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function Cell, 72 (1993),pp. 827-834
[7]	DI, Vage, H, et al. Molecular and pharmacological characterization of dominant black coat color in sheep Mamm Genome, 10 (1999),pp. 39-43
[8]	Wu Zh, L, XL, et al. Anim Res, 55 (2006),pp. 313-322
[9]	H, Klungland, DI, et al. Cell Res, 12 (1999),pp. 391-393
[10]	H, Klungland, DI, et al. The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination Mamm Genome, 6 (1995),pp. 636-639
[11]	H, Joerg, HR, et al. Mamm Genome, 7 (1996),pp. 317-318
[12]	L, Marklund, JM, et al. Mamm Genome, 7 (1996),pp. 895-899
[13]	JMH, Kijas, R, et al. Genetics, 150 (1998),pp. 1177-1185
[14]	JMH, Kijas, M, et al. Genetics, 158 (2001),pp. 779-785
[15]	SH, Deng, J, et al. Acta Genet Sin, 30 (2003),pp. 949-954
[16]	RA, Sturm, RD, et al. Human pigmentation genes: identification, structure and consequences of polymorphic variation Gene, 277 (2001),pp. 49-62
[17]	HB, Schioth, SR, et al. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair Biochem BiophysRes Commu, 260 (1999),pp. 488-491
[18]	YS, Yang, N, et al. Hereditas, 26 (2004),pp. 544-550
[19]	PA, Frandberg, M, et al. Human pigmentation phenotype: A point mutation generates nonfunctional MSH receptor Biochem Biophy Rescommun, 245 (1998),pp. 490-492
[20]	E, Kostenis, FY, et al. Functional characterization of a series of mutant G protein alphaq subunits displaying promiscuous receptor coupling properties J Biol Chem, 273 (1998),pp. 17886-17892
[21]	Sanchez Mas, J, Olivares Sanchez, et al. Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function Eur J Biochem, 269 (2002),pp. 6133-6141
[22]	HB, Schioth, S, et al. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair, Biochem. Biophys Res Commun, 260 (1999),pp. 488-491
[23]	Li, XL, Zheng, et al. Evolution and differentiation of MSHR in different species Journal of Heredity, 98 (2007),pp. 165-168
[24]	P, Prusis, PA, et al. A three dimensional model for the interaction of MSH with the melanocortin-1 receptor Biochem Biophys Res Commun, 210 (1995),pp. 205-210
[25]	H, Nielsen, J, et al. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites Protein Engineering, 10 (1997),pp. 1-6
[26]	C, Haskell-Luevano, TK, et al. Drug Des Discov, 14 (1996),pp. 197-211
[27]	Y, Yang, C, et al. Molecular basis for the interaction of [Nle4, D-Phe7] melanocyte stimulating hormone with the human melanocortin-1 receptor (melanocyte alpha-MSH receptor) J Biol Chem, 272 (1997),pp. 23000-23010