OMIA 001445-9031 : Feather colour, dilute in Gallus gallus

In other species: Muscovy duck , Japanese quail

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

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.

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

Variants

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
Five gray MLPH missense 7 g.4727070A>G c.1909A>G 2016 27173258
Feather colour, lavender MLPH missense Gallus_gallus-5.0 7 g.4795061 c.103C>T p.R35W 2008 18197963 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


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.

Edit History


  • Created by Frank Nicholas on 24 Jan 2008
  • Changed by Frank Nicholas on 10 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 01 Oct 2015
  • Changed by Frank Nicholas on 01 Sep 2017