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BMC Genet. 2008 Jan 15;9:7. doi: 10.1186/1471-2156-9-7.

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

Author information

1
Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK. bop03mv@sheffield.ac.uk

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.

PMID:
18197963
PMCID:
PMC2253553
DOI:
10.1186/1471-2156-9-7
[Indexed for MEDLINE]
Free PMC Article

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