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

ABSTRACT: 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.

SUBMITTER: Vaez M

PROVIDER: S-EPMC2253553 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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

Vaez Mohsen M Follett Sarah A SA Bed'hom Bertrand B Gourichon David D Tixier-Boichard Michèle M Burke Terry T

BMC genetics 20080115

<h4>Background</h4>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.<h4>Results</h4>We have used a candidate-gene approach based on an expectation of homology with mammals to isolate a gene involved in pigmentation in chicken. Compar ...[more]

PMID: 18197963

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