OMIA 001445-9031 : Feather colour, dilution, MLPH-related in Gallus gallus
Xu et al. (2016): "A single nucleotide polymorphism (C.1909A>G) was identified within the melanophilin (MLPH) gene and was significantly associated with the gray dilution phenotype. Our findings suggest that the E and FM alleles act together to cause the development of the "five-black" phenotype (black feather, comb, skin, shank, and beak), whereas the MLPH mutation results in defective melanosome transport, leading to the development of the "five-gray" phenotype" in Anyi tile-like gray chickens.Breed: Anyi tile-like gray. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Gallus gallus||7||NC_006094.5 (4833676..4814723)||MLPH||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Feather colour, lavender||MLPH||missense||Gallus_gallus-5.0||7||g.4795061C>T||c.103C>T||p.R35W||2008||18197963||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Xu, J.G., Xie, M.G., Zou, S.Y., Liu, X.F., Li, X.H., Xie, J.F., Zhang, X.Q. :|
|Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken. Genet Mol Res 15:, 2016. Pubmed reference: 27173258. DOI: 10.4238/gmr.15027633.|
|2008||Vaez, M., Follett, SA., Bed'hom, B., Gourichon, D., Tixier-Boichard, M., Burke, T. :|
|A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken. BMC Genet 9:7, 2008. Pubmed reference: 18197963. DOI: 10.1186/1471-2156-9-7.|
|2002||Minvielle, F., Gourichon, D., Monvoisin, J.L. :|
|Testing homology of loci for two plumage colors, "lavender" and "recessive white," with chicken and Japanese quail hybrids Journal of Heredity 93:73-76, 2002. Pubmed reference: 12011184.|
|1981||Mayerson, PL., Brumbaugh, JA. :|
|Lavender, a chick melanocyte mutant with defective melanosome translocation: a possible role for 10 nm filaments and microfilaments but not microtubules. J Cell Sci 51:25-51, 1981. Pubmed reference: 7198647.|
|1972||Brumbaugh, JA., Chatterjee, G., Hollander, WF. :|
|Adendritic melanocytes: a mutation in linkage group II of the fowl. J Hered 63:19-25, 1972. Pubmed reference: 5019540.|
- Created by Frank Nicholas on 24 Jan 2008
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