title: 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.
  
  
  CONCLUSIONS
  This is the first time that an avian species with a mutation in the MLPH gene has been reported.
authors.affiliation: Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK. bop03mv@sheffield.ac.uk
authors.forename: Mohsen
authors.initials: M
authors.lastname: Vaez
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Follett
authors.forename: Bertrand
authors.initials: B
authors.lastname: Bed'hom
authors.forename: David
authors.initials: D
authors.lastname: Gourichon
authors.forename: Michèle
authors.initials: M
authors.lastname: Tixier-Boichard
authors.forename: Terry
authors.initials: T
authors.lastname: Burke
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000818:Animals; D002645:Chickens / Q000235:genetics*; D005241:Feathers; D005260:Female; D008297:Male; D008543:Melanins / Q000235:genetics*; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008543:Melanins