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

Vaez, M., Follett, S.A., Bed'hom, B., Gourichon, D., Tixier-Boichard, M. and Burke, T. (2008) A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken. BMC Genetics, 9 (1). p. 7. ISSN 1471-2156

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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.

Item Type: Article
Copyright, Publisher and Additional Information: © 2008 Vaez et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Science (Sheffield) > School of Biological Sciences (Sheffield) > Department of Animal and Plant Sciences (Sheffield)
Depositing User: Sheffield Import
Date Deposited: 08 Oct 2009 11:22
Last Modified: 08 Oct 2009 12:00
Published Version: http://www.biomedcentral.com/1471-2156/9/7
Status: Published
Publisher: BioMed Central
Identification Number: 10.1186/1471-2156-9-7
URI: http://eprints.whiterose.ac.uk/id/eprint/9756

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