GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000645
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Gallus gallus
Trait State in Taxon B
Gallus gallus - lavender
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
chicken
Synonyms
Gallus gallus domesticus; chicken; bantam; chickens
Rank
species
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Gallus gallus - lavender
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Arg35Trp
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Vaez M; Follett SA; Bed'hom B; Gourichon D; Tixier-Boichard M; Burke T
Abstract
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.

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.

This is the first time that an avian species with a mutation in the MLPH gene has been reported.
Additional References
EXTERNAL LINKS
COMMENTS
YOUR FEEDBACK is welcome!