Vaez Mohsen, Follett Sarah A, Bed'hom Bertrand, Gourichon David, Tixier-Boichard Michèle, Burke Terry
Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK.
BMC Genet. 2008 Jan 15;9:7. doi: 10.1186/1471-2156-9-7.
The lavender phenotype in the chicken causes the dilution of both black (eumelanin) and red/brown (phaeomelanin) pigments. Defects in three genes involved in intracellular melanosomal transport, previously described in mammals, give rise to similar diluted pigmentation phenotypes as those seen in lavender chickens.
We have used a candidate-gene approach based on an expectation of homology with mammals to isolate a gene involved in pigmentation in chicken. Comparative sequence analysis of candidate genes in the chicken identified a strong association between a mutation in the MLPH gene and the diluted pigmentation phenotype. This mutation results in the amino acid change R35W, at a site also associated with similar phenotypes in mice, humans and cats.
This is the first time that an avian species with a mutation in the MLPH gene has been reported.
鸡的淡紫色表型会导致黑色（真黑素）和红色/棕色（褐黑素）色素均被稀释。先前在哺乳动物中描述的参与细胞内黑素小体运输的三个基因的缺陷会产生与淡紫色鸡中所见相似的色素稀释表型。
我们基于与哺乳动物的同源性预期，采用候选基因方法来分离鸡中参与色素沉着的基因。对鸡的候选基因进行比较序列分析发现，MLPH基因中的一个突变与色素稀释表型之间存在强烈关联。该突变导致氨基酸变化R35W，该位点在小鼠、人类和猫中也与类似表型相关。
这是首次报道MLPH基因发生突变的鸟类物种。
