Vaez, M., Follett, S.A., Bed'hom, B. et al. (3 more authors) (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
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.
Metadata
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| 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. |
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| Institution: | The University of Sheffield |
| Academic Units: | The University of Sheffield > Faculty of Science (Sheffield) > School of Biosciences (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: | https://doi.org/10.1186/1471-2156-9-7 |
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