A single point-mutation within the melanophilin gene causes the <it>lavender </it>plumage colour dilution phenotype in the chicken

• Main Authors: Tixier-Boichard Michèle, Gourichon David, Bed'hom Bertrand, Follett Sarah A, Vaez Mohsen, Burke Terry
• Format: Article
• Language: English
• Published: BMC 2008-01-01
• Series: BMC Genetics
• Online Access: http://www.biomedcentral.com/1471-2156/9/7

<p>Abstract</p> <p>Background</p> <p>The <it>lavender </it>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 <it>lavender </it>chickens.</p> <p>Results</p> <p>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 <it>MLPH </it>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.</p> <p>Conclusion</p> <p>This is the first time that an avian species with a mutation in the <it>MLPH </it>gene has been reported.</p>