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

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


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.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Animals
  • Chickens / genetics*
  • Feathers*
  • Female
  • Male
  • Melanins / genetics*
  • Phenotype
  • Pigmentation / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • Adaptor Proteins, Signal Transducing
  • Melanins