OMIA:000370-9031 : Feather colour, SLC45A2-related in Gallus gallus (chicken) |
In other species: turkey , Rose-ringed parakeet , Japanese quail , Plum-headed parakeet , Alexandrine parakeet
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Z-linked
Disease-related: no
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: Renamed from 'Feather colour, albinism, sex-linked, imperfect' to 'Feather colour, SLC45A2-related' [14/11/2023]
Species-specific name: silver, sex-linked imperfect albinism
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)
Some of this information was previously listed as "Feather colour, silver OMIA 000915-9031", entries were merged [14/11/2023]
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.
Breeds:
Plymouth Rock (Chicken) (VBO_0000592),
White Leghorn (Chicken) (VBO_0000646).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 | 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 | 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 | 2007 | 17151254 | Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000370-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 Poult Sci 78:1100-1, 1999. Pubmed reference: 10472834. DOI: 10.1093/ps/78.8.1100. | |
| 1996 | Bitgood, J.J., Rozum, J.J. : |
| Close linkage relationship of the Z-linked Pop-eye and Silver plumage color loci in the chicken Poult Sci 75:1067-8, 1996. Pubmed reference: 8878260. DOI: 10.3382/ps.0751067. | |
| Coquerelle, G., Merat, P. : | |
| Effects associated with the sex-linked imperfect albinism (s(al)) in dwarf laying hens (dw) Archiv fur Geflugelkunde 60:257-260, 1996. | |
| Santos, G.A., Silversides, F.G. : | |
| A method for separating sex-linked imperfect albino (s-asterisk-als) and nonalbino embryos before hatch Poultry Science 75:585-588, 1996. Pubmed reference: 8722905. | |
| Santos, G.A., Silversides, F.G. : | |
| Utilization of the sex-linked gene for imperfect albinism (s-asterisk-als) .1. effect of early weight loss on chick metabolism Poultry Science 75:1321-1329, 1996. Pubmed reference: 8933584. | |
| Santos, G.A., Silversides, F.G. : | |
| Utilization of the sex-linked gene for imperfect albinism (s-asterisk-als) .2. yolk sac lipid utilization Poultry Science 75:1455-1462, 1996. Pubmed reference: 9000266. | |
| Su, H., Silversides, F.G., Villeneuve, P. : | |
| Effects of sex-linked imperfect albinism (s-al-s) in the chicken on the relationships of plasma concentrations of progesterone and 17-beta-estradiol with egg production Poultry Science 75:13-19, 1996. Pubmed reference: 8650102. | |
| 1995 | Su, H., Silversides, F.G., Villeneuve, P. : |
| Ovarian morphology and follicular development in sex-linked imperfect albino (s(al-s)) and nonalbino hens before or after a forced moult British Poultry Science 36:645-653, 1995. Pubmed reference: 8590096. DOI: 10.1080/00071669508417809. | |
| 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 Poult Sci 73:1359-61, 1994. Pubmed reference: 7800634. DOI: 10.3382/ps.0731359. | |
| Su, H., Silversides, F.G., Villeneuve, P. : | |
| Production and quality of eggs from sex-linked imperfect albino (sal-s) and nonalbino (s+) hens kept under commercial conditions. Poult Sci 73:1813-21, 1994. Pubmed reference: 7877937. DOI: 10.3382/ps.0731813. | |
| 1993 | Shoffner, R.N., Otis, J.S., Garwood, V.A. : |
| Association of dominant marker traits and metric traits in chickens. Poult Sci 72:1405-10, 1993. Pubmed reference: 8378215. DOI: 10.3382/ps.0721405. | |
| Silversides, F.G., Tixier-Boichard, M., Durand, L., Mérat, P. : | |
| Research note: the S(al)-c mutation in the chicken is not linked to Rous-associated virus-2 related DNA sequences. Poult Sci 72:368-72, 1993. Pubmed reference: 8382818. DOI: 10.3382/ps.0720368. | |
| Silversides, F.G., Williams, J., Mérat, P. : | |
| Effects of sex-linked imperfect albinism in the chicken (sal-c) on plasma luteinising hormone concentrations and early egg production. Br Poult Sci 34:1011-9, 1993. Pubmed reference: 8156417. DOI: 10.1080/00071669308417660. | |
| 1992 | Silversides, F.G., Mérat, P., Coquerelle, G. : |
| Differential environmental effects on lesions, early growth, and mortality of imperfect albino (Sal-c) chicks. Poult Sci 71:813-20, 1992. Pubmed reference: 1608875. DOI: 10.3382/ps.0710813. | |
| 1991 | Silversides, F.G., Crawford, R.D. : |
| Effects of imperfect albinism (sal-s) on egg production in two lines of chickens. Poult Sci 70:702-8, 1991. Pubmed reference: 1876546. DOI: 10.3382/ps.0700702. | |
| Silversides, F.G., Crawford, R.D. : | |
| Effects of imperfect albinism (sal-s) on growth in a heavy line of chickens. Poult Sci 70:6-12, 1991. Pubmed reference: 2017418. DOI: 10.3382/ps.0700006. | |
| Silversides, F.G., Crawford, R.D. : | |
| Phenotypic, embryonic, and neonatal effects of a gene for sex-linked imperfect albinism (Sal-s) in chickens. Poult Sci 70:1306-13, 1991. Pubmed reference: 1886840. DOI: 10.3382/ps.0701306. | |
| 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. | |
| 1990 | Silversides, F.G., Crawford, R.D. : |
| Genetic aspects of a new mutation (Sal-S) to sex-linked imperfect albinism in chickens. Genetics Selection Evolution 22:447-455, 1990. | |
| 1989 | Machal, L., Jerabek, S., Hampl, A. : |
| The production of coloursexing laying hens of domestic fowl when using the locus 'k' 8th International Symposium on Current Problems of Avian Genetics, Smolenice :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. | |
| 1987 | Boissy, R.E., Moellmann, G.E., Halaban, R. : |
| Tyrosinase and acid phosphatase activities in melanocytes from avian albinos. J Invest Dermatol 88:292-300, 1987. Pubmed reference: 3102623. | |
| 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. DOI: 10.3382/ps.0642234. | |
| 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. DOI: 10.3382/ps.0480343. | |
| 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. | |
| 1949 | Warren, DC. : |
| Linkage relations of autosomal factors in the fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319. DOI: 10.1093/genetics/34.3.333. | |
| 1938 | Warren, D.C. : |
| Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938. DOI: 10.1093/genetics/23.1.139. | |
| 1933 | Macarthur, J.W. : |
| Sex-linked genes in the fowl. Genetics 18:210-20, 1933. Pubmed reference: 17246689. DOI: 10.1093/genetics/18.3.210. | |
| 1928 | Warren, D.C. : |
| Sex-linked characters of poultry. Genetics 13:421-33, 1928. Pubmed reference: 17246558. DOI: 10.1093/genetics/13.5.421. | |
| 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. DOI: doi/10.1086/279898. | |
| 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 19 Jun 2013
- Changed by Frank Nicholas on 10 Dec 2017
- Changed by Imke Tammen2 on 14 Nov 2023
- Changed by Imke Tammen2 on 09 Feb 2024