OMIA:000915-9031 : Feather colour, silver in Gallus gallus |
In other species: Japanese quail
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606202 (gene) , 227240 (trait) , 606574 (trait) , 156845 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Z-linked
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2007
Species-specific symbol: S
Species-specific description: "S*S (Silver), S*N (wild type/gold), and S*AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z" (Gunnarsson et al., 2007)
Molecular basis: Gunnarsson et al. (2007) identified the following three likely causal variants:
S*AL: "106delT mutation in the chicken S*AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay."
S*S: "Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken . . . the former mutation, associated only with Silver in White Leghorn"
An unresolved puzzle is that the two missense mutations inhibit only phaeomelanin production, whereas the frameshift mutation in the same gene gives rise to an almost complete absence of eumelanin and phaeomelanin.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC45A2 | solute carrier family 45, member 2 | Gallus gallus | Z | NC_052572.1 (10901748..10882873) | SLC45A2 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 514 | Sex-linked imperfect albinism | SLC45A2 | S*AL | deletion, small (<=20) | Naturally occurring variant | Z | c.106delT | 2007 | 17151254 | ||||||||
| 9 | Feather colour, silver | SLC45A2 | S*S | missense | Naturally occurring variant | GRCg6a | Z | g.10336596G>T | c.1039C>A | p.(L347M) | rs314509501 | rs314509501 | 2007 | 17151254 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 10 | White Leghorn (Chicken) | Feather colour, silver | SLC45A2 | S*S | missense | Naturally occurring variant | GRCg6a | Z | g.10340909T>C | c.830A>G | p.(Y277C) | rs315357427 | rs315357427 | 2007 | 17151254 | Variant coordinates obtained from or confirmed by EBI's Variant 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.
| 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. | |
| 2019 | Nie, C., Ban, L., Ning, Z., Qu, L. : |
| Feather colour affects the aggressive behaviour of chickens with the same genotype on the dominant white (I) locus. PLoS One 14:e0215921, 2019. Pubmed reference: 31048862 . DOI: 10.1371/journal.pone.0215921. | |
| 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. | |
| 1999 | Bitgood, J.J. : |
| Linkage relationships of the Z-linked silver, slow feathering, and pop-eye loci Poultry Science 78:1100-1101, 1999. Pubmed reference: 10472834 . | |
| 1996 | Bitgood, J.J., Rozum, J.J. : |
| Close linkage relationship of the Z-linked Pop-eye and Silver plumage color loci in the chicken Poultry Science 75:1067-1068, 1996. Pubmed reference: 8878260 . | |
| 1994 | Bitgood, J.J. : |
| Lack of recombination between the Z-linked silver feather pattern locus and the break point of a chromosome translocation: A second occurrence Poultry Science 73:1359-1361, 1994. Pubmed reference: 7800634 . | |
| 1993 | Shoffner, R.N., Otis, J.S., Garwood, V.A. : |
| Association of dominant marker traits and metric traits in chickens. Poultry Science 72:1405-1410, 1993. Pubmed reference: 8378215 . | |
| 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. | |
| 1989 | Machal, L., Jerabek, S., Hampl, A. : |
| The production of coloursexing laying hens of domestic fowl when using the locus 'k' :251-254, 1989. | |
| Merat, P., Bordas, A. : | |
| Differential Response of Sex-Linked Albino (Sal) and Silver (S) Hens to High and Low Light Intensity British Poultry Science 30:807-813, 1989. | |
| 1988 | Wen, R.P., Miu, X.G. : |
| [Preliminary studies on the establishment of breeding lines of autosexing meat-type fowls, using sex-linked genes for white-golden feathers] Chinese Journal of Animal Science :9-12, 1988. | |
| 1986 | Garcia, A.J. : |
| [Sexing day-old chicks on the basis of sex-linked genes. Current trends] Revista Cubana de Ciencias Avicolas 13:13-32, 1986. | |
| 1985 | Bitgood, JJ. : |
| Additional linkage relationships within the Z chromosome of the chicken. Poult Sci 64:2234-8, 1985. Pubmed reference: 4095061 . | |
| 1969 | Carte, I.F., Smith, J.H. : |
| Degree of linkage between the silver plumage (S) and slow juvenile feathering (K) loci. Poult Sci 48:343-4, 1969. Pubmed reference: 5389848 . | |
| 1961 | Griesbach, L. : |
| Body weights of gold and silver segregates in chicken broilers Poultry Science 40:1763-1764, 1961. | |
| 1959 | Wessels, J.P.H. : |
| [Linkage between silver colour and late feathering in fowls] South African Journal of Agricultural Science 2:357-361, 1959. | |
| 1938 | Warren, D.C. : |
| Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938. | |
| 1933 | Macarthur, J.W. : |
| Sex-Linked Genes in the Fowl. Genetics 18:210-20, 1933. Pubmed reference: 17246689 . | |
| 1928 | Warren, D.C. : |
| Sex-Linked Characters of Poultry. Genetics 13:421-33, 1928. Pubmed reference: 17246558 . | |
| 1925 | Haldane, J.B.S., Crew, F.A.E. : |
| Change of linkage in poultry with age. Nature 115:641 only, 1925. DOI: 10.1038/115641b0. | |
| 1922 | Serebrosky, A.S. : |
| Crossing-over involving three sex-linked genes in chickens. American Naturalist 56:571-572, 1922. | |
| 1921 | Haldane, J.B.S. : |
| Linkage in poultry. Science 54:663 only, 1921. Pubmed reference: 17816160 . DOI: 10.1126/science.54.1409.663. | |
| 1917 | Goodale, H.D. : |
| Crossing-over in the sex chromosome of the male fowl. Science 46:213 only, 1917. Pubmed reference: 17782267 . DOI: 10.1126/science.46.1183.213. |
Edit History
- Created by Frank Nicholas on 10 Nov 2009
- Changed by Frank Nicholas on 10 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 02 Mar 2012
- Changed by Frank Nicholas on 10 Dec 2017