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Open Access Research article

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

Mohsen Vaez1, Sarah A Follett1, Bertrand Bed'hom2, David Gourichon2, Michèle Tixier-Boichard2 and Terry Burke1*

Author Affiliations

1 Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK

2 INRA, AgroParisTech, UMR1236 Génétique et Diversité Animales, F-78350, Jouy-en-Josas, Cedex, France

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BMC Genetics 2008, 9:7  doi:10.1186/1471-2156-9-7

Published: 15 January 2008

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.