OMIA 000369-9031 : Feather colour, albinism in Gallus gallus

In other species: northern bobwhite , budgerigar

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Gallus gallus 1 NC_006088.5 (189202973..189153120) TYR 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, recessive white TYR C*C insertion, gross (>20) a retroviral insertion in the tyrosinase gene 2006 16457736
Feather colour, albinism TYR C*A deletion, small (<=20) c.817_822del6 p.237-238delDW 2000 10685888

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.
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 Journal of Heredity 93:73-76, 2002. Pubmed reference: 12011184.
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 Poultry Science 79:46-50, 2000. Pubmed reference: 10685888.
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.
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.
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.
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.
1949 Warren, DC. :
Linkage Relations of Autosomal Factors in the Fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319.
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
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  • Changed by Frank Nicholas on 19 Jun 2013
  • Changed by Frank Nicholas on 10 Dec 2017