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
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.
|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|