Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep

The melanocortin receptor 1 (MC1R) plays a central role in regulation of animal coat color formation. In this study, we sequenced the complete coding region and parts of the 5′- and 3′-untranslated regions of the MC1R gene in Chinese sheep with completely white (Large-tail...

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Main Authors: Guang-Li Yang, Dong-Li Fu, Xia Lang, Yu-Tao Wang, Shu-Ru Cheng, Su-Li Fang, Yu-Zhu Luo
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1155/2013/675382
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author Guang-Li Yang
Dong-Li Fu
Xia Lang
Yu-Tao Wang
Shu-Ru Cheng
Su-Li Fang
Yu-Zhu Luo
author_facet Guang-Li Yang
Dong-Li Fu
Xia Lang
Yu-Tao Wang
Shu-Ru Cheng
Su-Li Fang
Yu-Zhu Luo
author_sort Guang-Li Yang
collection DOAJ
description The melanocortin receptor 1 (MC1R) plays a central role in regulation of animal coat color formation. In this study, we sequenced the complete coding region and parts of the 5′- and 3′-untranslated regions of the MC1R gene in Chinese sheep with completely white (Large-tailed Han sheep), black (Minxian Black-fur sheep), and brown coat colors (Kazakh Fat-Rumped sheep). The results showed five single nucleotide polymorphisms (SNPs): two non-synonymous mutations previously associated with coat color (c.218 T>A, p.73 Met>Lys. c.361 G>A, p.121 Asp>Asn) and three synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu. c.735 C>T, p.245 Ile>Ile). Meanwhile, all mutations were detected in Minxian Black-fur sheep. However, the two nonsynonymous mutation sites were not in all studied breeds (Large-tailed Han, Small-tailed Han, Gansu Alpine Merino, and China Merino breeds), all of which are in white coat. A single haplotype AATGT (haplotype3) was uniquely associated with black coat color in Minxian Black-fur breed (P=9.72E-72, chi-square test). The first and second A alleles in this haplotype 3 represent location at 218 and 361 positions, respectively. Our results suggest that the mutations of MC1R gene are associated with black coat color phenotype in Chinese sheep.
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spelling doaj-art-4bc6da9331b541a983b7348d828f3a552025-08-20T02:38:42ZengWileyThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/675382675382Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese SheepGuang-Li Yang0Dong-Li Fu1Xia Lang2Yu-Tao Wang3Shu-Ru Cheng4Su-Li Fang5Yu-Zhu Luo6Department of Life Sciences, Shangqiu Normal University, Shangqiu 476000, ChinaGansu Province Key Laboratory of Herbivorous Animal Biotechnology, Gansu Agricultural University, Lanzhou 730070, ChinaLanzhou Institute of Animal and Veterinary Pharmaceutics Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, ChinaGansu Province Key Laboratory of Herbivorous Animal Biotechnology, Gansu Agricultural University, Lanzhou 730070, ChinaGansu Province Key Laboratory of Herbivorous Animal Biotechnology, Gansu Agricultural University, Lanzhou 730070, ChinaGansu Province Key Laboratory of Herbivorous Animal Biotechnology, Gansu Agricultural University, Lanzhou 730070, ChinaGansu Province Key Laboratory of Herbivorous Animal Biotechnology, Gansu Agricultural University, Lanzhou 730070, ChinaThe melanocortin receptor 1 (MC1R) plays a central role in regulation of animal coat color formation. In this study, we sequenced the complete coding region and parts of the 5′- and 3′-untranslated regions of the MC1R gene in Chinese sheep with completely white (Large-tailed Han sheep), black (Minxian Black-fur sheep), and brown coat colors (Kazakh Fat-Rumped sheep). The results showed five single nucleotide polymorphisms (SNPs): two non-synonymous mutations previously associated with coat color (c.218 T>A, p.73 Met>Lys. c.361 G>A, p.121 Asp>Asn) and three synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu. c.735 C>T, p.245 Ile>Ile). Meanwhile, all mutations were detected in Minxian Black-fur sheep. However, the two nonsynonymous mutation sites were not in all studied breeds (Large-tailed Han, Small-tailed Han, Gansu Alpine Merino, and China Merino breeds), all of which are in white coat. A single haplotype AATGT (haplotype3) was uniquely associated with black coat color in Minxian Black-fur breed (P=9.72E-72, chi-square test). The first and second A alleles in this haplotype 3 represent location at 218 and 361 positions, respectively. Our results suggest that the mutations of MC1R gene are associated with black coat color phenotype in Chinese sheep.http://dx.doi.org/10.1155/2013/675382
spellingShingle Guang-Li Yang
Dong-Li Fu
Xia Lang
Yu-Tao Wang
Shu-Ru Cheng
Su-Li Fang
Yu-Zhu Luo
Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
The Scientific World Journal
title Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
title_full Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
title_fullStr Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
title_full_unstemmed Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
title_short Mutations in MC1R Gene Determine Black Coat Color Phenotype in Chinese Sheep
title_sort mutations in mc1r gene determine black coat color phenotype in chinese sheep
url http://dx.doi.org/10.1155/2013/675382
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