Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken
Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken
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DOI：
10.1046/j.1365-2052.2003.00991.x
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发表时间：
2003-08-01
期刊：
影响因子：
2.4
通讯作者：
Andersson, L
中科院分区：
文献类型：
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作者：
Kerje, S;Lind, J;Andersson, L
利用红毛鸡与白来航鸡杂交，研究了黑素皮质素1受体基因(MC1R)的羽色共分离和序列多态性。这些结果提供了令人信服的证据，表明控制羽毛颜色的扩展黑(E)基因座与MC1R等同。E/MC1R被分配到第11号染色体，获得了压倒性的统计支持。序列分析表明，E92K替换，导致忧郁小鼠的一个结构性活跃的受体，是白色来航鼠创始人在这个杂交中携带的延伸黑色等位基因的最有可能的致因突变。与隐性毛刺花(e(Bc))等位基因相关的MC1R序列表明，该等位基因是从显性扩展黑色等位基因进化而来的，因为它与一些E等位基因共享E92K和M71T替换。它还携带第三个错义突变H215P，从而可能干扰E92K(可能还有M71T)引起的受体的结构性激活。
The co-segregation of plumage colour and sequence polymorphism in the melanocortin 1-receptor gene (MC1R ) was investigated using an intercross between the red junglefowl and White Leghorn chickens. The results provided compelling evidence that the Extended black (E ) locus controlling plumage colour is equivalent to MC1R. E /MC1R was assigned to chromosome 11 with overwhelming statistical support. Sequence analysis indicated that the E92K substitution, causing a constitutively active receptor in the sombre mouse, is the most likely causative mutation for the Extended black allele carried by the White Leghorn founders in this intercross. The MC1R sequence associated with the recessive buttercup (e (bc) ) allele indicated that this allele evolved from a dominant Extended black allele as it shared the E92K and M71T substitutions with some E alleles. It also carried a third missense mutation H215P which thus may interfere with the constitutive activation of the receptor caused by E92K (and possibly M71T).