Allelic variation of melanocortin-1 receptor locus in Saudi indigenous sheep exhibiting different color coats
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Objective: This study was designed to characterize the DNA polymorphisms of the melanocortin-1 receptor (MC1R) gene in indigenous Saudi Arabian sheep breeds exhibiting different color coats, along with individuals of the Sawaknee breed, an exotic sheep imported from Sudan. Methods: The complete coding region of MC1R gene including parts of 3' and 5' untranslated regions was amplified and sequenced from three the indigenous Saudi sheep; Najdi (generally black, n = 41), Naeimi (generally white with brown faces, n = 36) and Herri (generally white, n = 18), in addition to 13 Sawaknee sheep. Results: Five single nucleotide polymorphisms (SNPs) were detected in the MC1R gene: two led to nonsynonymous mutations (c.218 T>A, p.73 Met>Lys and c.361 G>A, p.121 Asp>Asn) and three led to synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu, and c.735 C>T, p.245 Ile>Ile). Based on these five SNPs, eight haplotypes representing MC1R Ed and E+ alleles were identified among the studied sheep breeds. The most common haplotype (H3) of the dominant Ed allele was associated with either black or brown coat color in Najdi and Sawaknee sheep, respectively. Two other haplotypes (H6 and H7) of Ed allele, with only the nonsynonymous mutation A218T, were detected for the first time in Saudi indigenous sheep. Conclusion: In addition to investigating the MC1R allelic variation in Saudi indigenous sheep populations, the present study supports the assumption that the two independent nonsynonymous Met73Lys and Asp121Asn mutations in MC1R gene are associated with black or red coat colors in sheep breeds.
Abstract
Objective: This study was designed to characterize the DNA polymorphisms of the melanocortin-1 receptor (MC1R) gene in indigenous Saudi Arabian sheep breeds exhibiting different color coats, along with individuals of the Sawaknee breed, an exotic sheep imported from Sudan. Methods: The complete coding region of MC1R gene including parts of 3' and 5' untranslated regions was amplified and sequenced from three the indigenous Saudi sheep; Najdi (generally black, n = 41), Naeimi (generally white with brown faces, n = 36) and Herri (generally white, n = 18), in addition to 13 Sawaknee sheep. Results: Five single nucleotide polymorphisms (SNPs) were detected in the MC1R gene: two led to nonsynonymous mutations (c.218 T>A, p.73 Met>Lys and c.361 G>A, p.121 Asp>Asn) and three led to synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu, and c.735 C>T, p.245 Ile>Ile). Based on these five SNPs, eight haplotypes representing MC1R Ed and E+ alleles were identified among the studied sheep breeds. The most common haplotype (H3) of the dominant Ed allele was associated with either black or brown coat color in Najdi and Sawaknee sheep, respectively. Two other haplotypes (H6 and H7) of Ed allele, with only the nonsynonymous mutation A218T, were detected for the first time in Saudi indigenous sheep. Conclusion: In addition to investigating the MC1R allelic variation in Saudi indigenous sheep populations, the present study supports the assumption that the two independent nonsynonymous Met73Lys and Asp121Asn mutations in MC1R gene are associated with black or red coat colors in sheep breeds.
참고문헌 (29)
- Adalsteinsson S, "Colour inheritance in Icelandic sheep and relation between colour, fertility and fertilization", J Agric Res Iceland, 2, pp.3~135 (1970)
- Abouheif MA, "Identification of the preference patterns of different breeds of sheep for consumption in Saudi Arabia", Asian-Australas J Anim Sci, 2, pp.129~132 (1989)
- Andersson L, "Melanocortin receptor variants with phenotypic effects in horse, pig, and chicken", Ann NY Acad Sci, 994, pp.313~318 (2003)
- Chen SY, "Sequence characterization of the MC1R gene in yak (Poephagus grunniens) breeds with different coat colors", J Biomed Biotechnol (2009)
- Searle AG, "Comparative genetics of coat colour in mammals" (1968), Academic Press
- Bultman SJ, "Molecular characterization of the mouse agouti locus", Cell, 71, pp.1195~1204 (1992)
- Robbins LS, "Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function", Cell, 72, pp.827~834 (1993)
- Hunt G, "Nle4DPhe7 α-melanocyte-stimulating hormone increases the eumelanin: phaeomelanin ratio in cultured human melanocytes", J Investig Dermatol, 104, pp.83~85 (1995)
- Våge DI, "Molecular and pharmacological characterization of dominant black coat color in sheep", Mamm Genome, 10, pp.39~43 (1999)
- Våge DI, "Mapping and characterization of the dominant black colour locus in sheep", Pigment Cell Res, 16, pp.693~697 (2003)
- Fontanesi L, "Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences", BMC Genet, 10, pp.47~ (2009)
- Fontanesi L, "Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus", Small Rumin Res, 91, pp.200~207 (2010)
- Fang M, "Contrasting mode of evolution at a coat color locus in wild and domestic pigs", PLoS Genet, 5, pp.e1000341~ (2009)
- Sambrook J, "Molecular Cloning: A Laboratory Manual" (1989), Cold Spring Harbor Laboratory Press
- Yang GL, "Mutations in MC1R gene determine black coat color phenotype in Chinese sheep", Sci World J (2013)
- Mountjoy KG, "The cloning of a family of genes that encode the melanocortin receptors", Science, 257, pp.1248~1251 (1992)
- Cone RD, "The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation", Recent Prog Horm Res, 51, pp.287~317 (1996)
- Donatien PD, "The expression of functional MSH receptors on cultured human melanocytes", Arch Dermatol Res, 284, pp.424~426 (1992)
- García-Borrón JC, "Melanocortin-1 receptor structure and functional egulation", Pigment Cell Res, 18, pp.393~410 (2005)
- Klungland H, "Molecular genetics of pigmentation in domestic animals", Curr Genomics, 1, pp.223~242 (2000)
- Klungland H, "Pigmentary switches in domestic animal species", Ann NY Acad Sci, 994, pp.331~338 (2003)
- Lauvergne JJ, "Genetics of fleece coloring of three French sheep breeds: isolognot, bizet and berrichon", Ann Genet Sel Anim, 7, pp.263~276 (1975)
- Lauvergne JJ, "Genetic formulas for the colour in the Texel, the Dutch and the Zwartbles sheep in the Netherlands", Ann Genet Sel Anim, 10, pp.343~351 (1978)
- Sponenberg DP, "The genetics of sheep", pp.51~86 (1997), CAB International
- Hepp D, "Identification of the e allele at the extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation", Genet Mol Res, 11, pp.2997~3006 (2012)
- Royo LJ, "Differences in the expression of the ASIP gene are involved in the recessive black coat colour pattern in sheep: evidence from the rare Xalda sheep breed", Anim Genet, 39, pp.290~293 (2008)
- Kijas JMH, "Melanocortin receptor 1 (MC1R) mutations and coat color in pigs", Genetics, 150, pp.1177~1185 (1998)
- Kerje S, "Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken", Anim Genet, 34, pp.241~248 (2003)
- M. R. Hoque, "Investigation of MC1R SNPs and Their Relationships with Plumage Colors in Korean Native Chicken", ASIAN-AUSTRALASIAN JOURNAL OF ANIMAL SCIENCES, 26(5), pp.625~629 (2013), 아세아·태평양축산학회[DOI]