Hepp D, Gonçalves G L, Moreira G R P, Freitas T R O, Martins C T D C, Weimer T A, Passos D T
Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
Genet Mol Res. 2012 Aug 29;11(3):2997-3006. doi: 10.4238/2012.May.22.5.
The melanocortin 1 receptor (MC1R) gene has been described as responsible for the black color in some breeds of sheep, but little is known about its function in many colored breeds, particularly those with a wide range of pigmentation phenotypes. The Brazilian Creole is a local breed of sheep from southern Brazil that has a wide variety of wool colors. We examined the MC1R gene (Extension locus) to search for the e allele and determine its role in controlling wool color variation in this breed. One hundred and twenty-five animals, covering the most common Creole sheep phenotypes (black, brown, dark gray, light gray, and white), were sequenced to detect the mutations p.M73K and p.D121N. Besides these two mutations, three other synonymous sites (429, 600, and 725) were found. The dominant allele (E(D): p.73K, and p.121N) was found only in colored animals, whereas the recessive allele (E⁺: p.73M, and p.121D) was homozygous only in white individuals. We concluded that MC1R is involved in the control of wool color in Brazilian Creole sheep, particularly the dark phenotypes, although a second gene may be involved in the expression of the white phenotype in this breed.
黑皮质素1受体（MC1R）基因已被描述为在某些品种绵羊中导致黑色的原因，但对于其在许多有色品种，特别是那些具有广泛色素沉着表型的品种中的功能，人们了解甚少。巴西克里奥尔羊是来自巴西南部的一个本地绵羊品种，其羊毛颜色多种多样。我们检测了MC1R基因（扩展位点），以寻找e等位基因并确定其在控制该品种羊毛颜色变异中的作用。对涵盖最常见克里奥尔羊表型（黑色、棕色、深灰色、浅灰色和白色）的125只动物进行了测序，以检测p.M73K和p.D121N突变。除了这两个突变外，还发现了其他三个同义位点（429、600和725）。显性等位基因（E(D)：p.73K和p.121N）仅在有色动物中发现，而隐性等位基因（E⁺：p.73M和p.121D）仅在白色个体中纯合。我们得出结论，MC1R参与了巴西克里奥尔羊羊毛颜色的控制，特别是深色表型，尽管可能有第二个基因参与该品种白色表型的表达。
