A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken.
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken.
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DOI：
10.1186/1471-2156-9-7
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发表时间：
2008-01-15
期刊：
影响因子：
2.9
通讯作者：
Burke, Terry
中科院分区：
文献类型：
--
作者：
Vaez, Mohsen;Follett, Sarah A.;Bed'hom, Bertrand;Gourichon, David;Tixier-Boichard, Michele;Burke, Terry
鸡的淡紫色表型导致黑色（真黑素）和红/棕色（褐黑素）色素的稀释。先前在哺乳动物中描述的参与细胞内黑素体运输的三个基因的缺陷引起与熏衣草鸡中所见的类似的稀释色素沉着表型。我们已经使用了一个候选基因的方法的基础上的同源性与哺乳动物的期望，分离出一个基因参与色素在鸡。鸡的候选基因的比较序列分析确定了MLPH基因突变和稀释色素沉着表型之间的强关联。这种突变导致氨基酸变化R35 W，该位点也与小鼠、人类和猫的相似表型相关。这是首次报道MLPH基因突变的鸟类物种。
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.
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DOI：
10.1046/j.1471-8286.2002.00313.x
发表时间：
2002-12-01
期刊：
MOLECULAR ECOLOGY NOTES
影响因子：
--
作者：
Filatov, DA
通讯作者：
Filatov, DA
影响因子：
30.8
作者：
Ménasché, G;Pastural, E;de Saint Basile, G
通讯作者：
de Saint Basile, G
影响因子：
4.8
作者：
Bahadoran, P;Busca, R;Ballotti, R
通讯作者：
Ballotti, R
影响因子：
3.5
作者：
Hurst, LD;Williams, EJB
通讯作者：
Williams, EJB
DOI：
10.1073/pnas.181336698
发表时间：
2001-08-28
影响因子：
11.1
作者：
Matesic, LE;Yip, R;Jenkins, NA
通讯作者：
Jenkins, NA