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

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 thos...

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Detalles Bibliográficos
Autores principales: Vaez, Mohsen, Follett, Sarah A, Bed'hom, Bertrand, Gourichon, David, Tixier-Boichard, Michèle, Burke, Terry
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253553/
https://www.ncbi.nlm.nih.gov/pubmed/18197963
http://dx.doi.org/10.1186/1471-2156-9-7
Descripción
Sumario: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.