OMIA 000370-93934 : Feather colour, albinism, sex-linked, imperfect in Coturnix japonica

In other species: chicken , turkey

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606574

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2007

Species-specific description: This locus is orthologous to the Silver locus in chickens (OMIA 000915-9031) (Silversides and Merat, 1991)

Inheritance: As summarised by Gunnarsson et al. (2007), the allelic series at this locus is (in dominance hierarchy) is:

AL*N (wild type)

AL*C (cinnamon) = AL*D (dark-eyed dilute)

AL*A (sex-linked albinism)

Molecular basis: Gunnarsson et al. (2007) showed that the cinnamon allele (AL*C) corresponds to a missense mutation: c.287C>A; p.Ala72Asp in theSLC45A2 gene.

Gunnarsson et al. (2007) showed that the sex-linked albino allele (AL*A) corresponds to a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45 member 2 Coturnix japonica Z NC_029547.1 (9500684..9488310) SLC45A2 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
Feather colour, albinism, sex-linked, imperfect SLC45A2 splicing a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4" 2007 17151254
Feather colour, cinnamon SLC45A2 missense c.287C>A p.A72D 2007 17151254

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.
2009 Minvielle, F., Cecchi, T., Passamonti, P., Gourichon, D., Renieri, C. :
Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40:971-4, 2009. Pubmed reference: 19496774. DOI: 10.1111/j.1365-2052.2009.01929.x.
2007 Gunnarsson, U., Hellström, A.R., Tixier-Boichard, M., Minvielle, F., Bed'hom, B., Ito, S., Jensen, P., Rattink, A., Vereijken, A., Andersson, L. :
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail. Genetics 175:867-77, 2007. Pubmed reference: 17151254. DOI: 10.1534/genetics.106.063107.
2001 Minvielle, F., Ito, S., Inoue-Murayama, M., Mizutani, M., Wakasugi, N. :
Genetic analyses of plumage color mutations on the Z chromosome of Japanese quail. J Hered 91:499-501, 2001. Pubmed reference: 11218091.
1991 Silversides, F.G., Mérat, P. :
Homology of the s+ locus in the chicken with Al+ in the Japanese quail. Journal of Heredity 82:245-247, 1991.
1987 Takatsuji, K., Nakamura, A. :
Abnormality in the optic nerve of albino mutant quails. Invest Ophthalmol Vis Sci 28:384-90, 1987. Pubmed reference: 8591922.
Weidner, C., Repérant, J., Kirpitchnikova, E., Miceli, D., Desroches, A., Rio, J.P. :
Time course of degeneration of the visual system induced by spontaneous glaucoma in the albino quail (Coturnix coturnix japonica). Brain Res 419:357-63, 1987. Pubmed reference: 3676739.
Yamamoto, H., Ito, K., Ishiguro, S., Takeuchi, T. :
Gene controlling a differentiation step in the quail melanocyte Developmental Genetics 8:179-185, 1987. Pubmed reference: 3139348. DOI: 10.1002/dvg.1020080306.
1986 Takatsuji, K., Sato, Y., Iizuka, S., Nakatani, H., Nakamura, A. :
Animal model of closed angle glaucoma in albino mutant quails. Invest Ophthalmol Vis Sci 27:396-400, 1986. Pubmed reference: 3949468.
1985 Takatsuji, K., Iizuka, S., Nakatani, H., Nakamura, A. :
Morphology of the cataract in albino mutant quails (Coturnix coturnix japonica). Exp Eye Res 40:567-73, 1985. Pubmed reference: 4007071.
1984 Takatsuji, K., Ito, H., Watanabe, M., Ikushima, M., Nakamura, A. :
Histopathological changes of the retina and optic nerve in the albino mutant quail (Coturnix coturnix japonica). J Comp Pathol 94:387-404, 1984. Pubmed reference: 6470227.
1979 Konishi, H., Homma, K. :
Properties of electroretinogram in albino and wild-type Japanese quail with special regard to the C-wave. Nihon Juigaku Zasshi 41:647-54, 1979. Pubmed reference: 522340.
1966 Sittman, K., Wilson, W.O., McFarland, L.Z. :
Buff and albino Japanese quail. Description, inheritance and fitness traits Journal of Heredity 57:119-124, 1966.
1964 Lauber, J.K. :
Sex-linked albinism in the Japanese quail. Science 146:948-50, 1964. Pubmed reference: 14199723.
1957 Wint, G. :
One in seventy thousand Oklahoma Wildlife Oct 1957:11, 1957.

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