OMIA:001445-9031 : Feather colour, dilution, MLPH-related in Gallus gallus (chicken)
Categories: Pigmentation phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2008
Cross-species summary: Known as lavender feather colour
Species-specific symbol: LAV*L
Species-specific description: Black pigment is diluted to slaty blue or light grey; red pigment is diluted to beige or buff
History: This autosomal-recessive feather-colour mutant was first documented by Brumbaugh et al. (1972).
Molecular basis: By some very innovative use of comparative biology, Vaez et al. (2008) found a causative non-synonymous (missense) SNP (c.103C>T, leading to R35W) in the MLPH gene, on the basis of the lavender phenotype being similar to dilute coat-colour phenotypes in a range of mammals. This is an excellent example of how the power of comparative genomics can be extended well beyond genera, families, orders, reaching as far as different classes.
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.
Anyi gray chicken, China (Chicken) (VBO_0006654).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Gallus gallus||7||NC_052538.1 (4867111..4848100)||MLPH||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|807||Five gray||MLPH||missense||Naturally occurring variant||7||g.4727070A>G||c.1909A>G||2016||27173258|
|8||Feather colour, lavender||MLPH||missense||Naturally occurring variant||GRCg6a||7||g.4833305G>A||c.103C>T||p.(R35W)||2008||18197963||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
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.
|2020||Andersson, L., Bed’hom, B., Chuong, CM., Inaba, M.Inaba, M., Okimoto, R.Okimoto, R., Tixier-Boichard, M. :|
|The genetic basis for pigmentation phenotypes in poultry In S. E. Aggrey, H. Zhou, M. Tixier-Boichard, & D. D. Rhoads (Eds.), Advances in Poultry Genetics and Genomics. Cambridge, UK: Burleigh Dodds Science Publishing. :, 2020.|
|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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