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

Vaez, Mohsen; Follett, Sarah A.; Bed'hom, Bertrand; Gourichon, David; Tixier-Boichard, Michèle; Burke, Terry
January 2008
BMC Genetics;2008, Vol. 9, Special section p1
Academic Journal
Background: 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. Results: 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. Conclusion: This is the first time that an avian species with a mutation in the MLPH gene has been reported.


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