OMIA:000369-9031 : Feather colour, albinism in Gallus gallus (chicken) |
In other species: northern bobwhite , common canary , budgerigar
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606933 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2000
Species-specific symbol: C
Species-specific description: "In chickens, three mutant alleles have been reported at the C locus in addition to the wild type allele (C*N), which is the most dominant allele with full pigmentation. These mutations are the red-eye white (C*RE), the recessive white (C*C) and the autosomal albino (C*A) . . . . They all give a white plumage but differ by pigmentation of the eye varying from a grey color to a totally non-pigmented albino phenotype . . . . Furthermore, day-old chicks may exhibit a lightly pigmented down at hatch in homozygous carriers of the C*C mutation. . . . [T]he recessive white (C*C) is one of the earliest traits to be studied in chicken genetics, applying Mendel's rules to segregating families for feather color patterns. The recessive white phenotype is a varietal characteristic of many breeds, such as the Plymouth Rock, Wyandotte, Minorca, Orpington, Jersey Giant, Dorking, Langshan, and Silky" (Chang et al., 2006)
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based the molecular cause of albinism on other species), Tobita-Teramoto et al. (2000) identified a likely causal variant for the albino allele (C*A) as a "six-nucleotide deletion (−ΔGACTGG) from 817 through 822 bp at codons 237 and 238" of the chicken tyrosinase (TYR) gene as being causative. "This mutation deletes two amino acids in the tyrosinase protein: 237, aspartic acid, and 238, tryptophan." Chang et al. (2006) reported "that the insertion of a complete avian retroviral sequence in intron 4 of the tyrosinase gene is diagnostic of the recessive white mutation [C*C] in chickens. This insertion causes aberrant transcripts lacking exon 5, and we propose that this insertion is the causal mutation for the recessive white allele in the chicken." Liu et al. (2019) confirmed the effect of this variant.
Breeds:
Dorking (Chicken) (VBO_0000522),
Jersey Giant (Chicken) (VBO_0000547),
Langshan (Chicken) (VBO_0000558),
Minorca (Chicken) (VBO_0000572),
Orpington (Chicken) (VBO_0000588),
Plymouth Rock (Chicken) (VBO_0000592),
Silkie (Chicken) (VBO_0000619),
Wyandotte White (Chicken) (VBO_0000648).
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 |
---|---|---|---|---|---|---|
TYR | tyrosinase | Gallus gallus | 1 | NC_052532.1 (187810203..187752871) | TYR | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
718 | Feather colour, recessive white | TYR | C*C | insertion, gross (>20) | Naturally occurring variant | 1 | a retroviral insertion in the tyrosinase gene | 2006 | 16457736 | |||||||
513 | Feather colour, albinism | TYR | C*A | deletion, small (<=20) | Naturally occurring variant | 1 | c.817_822del6 | p.(D237_W238del) | 2000 | 10685888 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000369-9031: 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.
2021 | Cho, E., Kim, M., Manjula, P., Cho, S.H., Seo, D., Lee, S.S., Lee, J.H. : |
A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken. J Anim Sci Technol 63:751-758, 2021. Pubmed reference: 34447952. DOI: 10.5187/jast.2021.e71. | |
Hua, G., Chen, J., Wang, J., Li, J., Deng, X. : | |
Genetic basis of chicken plumage color in artificial population of complex epistasis. Anim Genet 52:656-66, 2021. Pubmed reference: 34224160. DOI: 10.1111/age.13094. | |
Nam, I.S., Oh, M.G., Nam, M.S., Kim, W.S. : | |
Specific mutations in the genes of MC1R and TYR have an important influence on the determination of pheomelanin pigmentation in Korean native chickens. J Adv Vet Anim Res 8:266-273, 2021. Pubmed reference: 34395597. DOI: 10.5455/javar.2021.h511. | |
2020 | Mastrangelo, S., Cendron, F., Sottile, G., Niero, G., Portolano, B., Biscarini, F., Cassandro, M. : |
Genome-wide analyses identifies known and new markers responsible of chicken plumage color. Animals (Basel) 10:493, 2020. Pubmed reference: 32183495. DOI: 10.3390/ani10030493. | |
2019 | Liu, X., Zhou, R., Peng, Y., Zhang, C., Li, L., Lu, C., Li, X. : |
Feather follicles transcriptome profiles in Bashang long-tailed chickens with different plumage colors. Genes Genomics 41:1357-1367, 2019. Pubmed reference: 30229509. DOI: 10.1007/s13258-018-0740-y. | |
Yang, C.W., Ran, J.S., Yu, C.L., Qiu, M.H., Zhang, Z.R., Du, H.R., Li, Q.Y., Xiong, X., Song, X.Y., Xia, B., Hu, C.M., Liu, Y.P., Jiang, X.S. : | |
Polymorphism in MC1R, TYR and ASIP genes in different colored feather chickens. 3 Biotech 9:203, 2019. Pubmed reference: 31065503. DOI: 10.1007/s13205-019-1710-z. | |
2007 | Rymer, J., Choh, V., Bharadwaj, S., Padmanabhan, V., Modilevsky, L., Jovanovich, E., Yeh, B., Zhang, Z., Guan, H., Payne, W., Wildsoet, C.F. : |
The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. Exp Eye Res 85:431-42, 2007. Pubmed reference: 17651735. DOI: 10.1016/j.exer.2007.06.010. | |
2006 | Chang, CM., Coville, JL., Coquerelle, G., Gourichon, D., Oulmouden, A., Tixier-Boichard, M. : |
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens. BMC Genomics 7:19, 2006. Pubmed reference: 16457736. DOI: 10.1186/1471-2164-7-19. | |
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 J Hered 93:73-6, 2002. Pubmed reference: 12011184. DOI: 10.1093/jhered/93.1.73. | |
2000 | Tobita-Teramoto, T., Jang, G.Y., Kino, K., Salter, D.W., Brumbaugh, J., Akiyama, T. : |
Autosomal albino chicken mutation (c(a)/c(a)) deletes hexanucleotide (-Delta GACTGG817) at a copper-binding site of the tyrosinase gene Poult Sci 79:46-50, 2000. Pubmed reference: 10685888. DOI: 10.1093/ps/79.1.46. | |
1999 | Su, H., Silversides, F.G., Villeneuve, P. : |
Ovarian follicular growth and maturity and follicular production of progesterone and oestradiol in response to porcine luteinising hormone and porcine follicle stimulating hormone in albino (S*AS) hens in vivo and in vitro British Poultry Science 40:545-551, 1999. Pubmed reference: 10579416. DOI: 10.1080/00071669987340. | |
1994 | Jeffery, G., Williams, A. : |
Is abnormal retinal development in albinism only a mammalian problem? Normality of a hypopigmented avian retina Experimental Brain Research 100:47-57, 1994. | |
Merat, P., Decuypere, E., Buyse, J. : | |
Plasma Hormone Levels of Albino (S(Al-C)) and Non-Albino Hens Genetics Selection Evolution 26:291-296, 1994. | |
1991 | Bitgood, J.J., Smyth, J.R. : |
Albinism in White Leghorn Chickens Poultry Science 70:1861-1863, 1991. Pubmed reference: 1780254. | |
1990 | Pardue, S.L., Ring, N.M., Smyth, J.R. : |
Autosomal Albinism Affects Immunocompetence in the Chicken Developmental and Comparative Immunology 14:105-112, 1990. Pubmed reference: 2338150. | |
1988 | Bitgood, J.J. : |
Linear relationship of the loci for barring, dermal melanin inhibitor, and recessive white skin on the chicken Z chromosome. Poult Sci 67:530-3, 1988. Pubmed reference: 3165529. DOI: 10.3382/ps.0670530. | |
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 | Pardue, S.L., Smyth, J.R. : |
Influence of C locus alleles on neonatal development in the domestic fowl. Poult Sci 65:426-32, 1986. Pubmed reference: 3703789. DOI: 10.3382/ps.0650426. | |
1985 | Oetting, W.S., Churilla, A.M., Yamamoto, H., Brumbaugh, J.A. : |
C pigment locus mutants of the fowl produce enzymatically inactive tyrosinase-like molecules. J Exp Zool 235:237-45, 1985. Pubmed reference: 3932585. DOI: 10.1002/jez.1402350210. | |
1984 | Bitgood, JJ., Dochnahl, J., Schlafly, P., Briles, RW., Briles, WE. : |
A study of linkage relationships of blood group P with naked neck, silkie feathering, and recessive white in chicken. Poult Sci 63:592-4, 1984. Pubmed reference: 6718311. DOI: 10.3382/ps.0630592. | |
1979 | Wilkins, L.M., Brumbaugh, J.A. : |
Complementation and noncomplementation in heterokaryons of three unlinked pigment mutants of the fowl. Somatic Cell Genet 5:427-40, 1979. Pubmed reference: 494058. DOI: 10.1007/BF01538878. | |
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. | |
1934 | Hutt, F.B. : |
Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 16 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Sep 2012
- Changed by Frank Nicholas on 19 Jun 2013
- Changed by Frank Nicholas on 10 Dec 2017
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 31 Aug 2021
- Changed by Imke Tammen2 on 23 Oct 2023