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Updated: Jul 8, 2026

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
Published on: March 1, 2022
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the
Mohsen Vaez1, Sarah A Follett, Bertrand Bed'hom
1Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK. bop03mv@sheffield.ac.uk
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.
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