OMIA:000373-9031 : Feather colour, dominant white in Gallus gallus (chicken)

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2004

Species-specific description: Kerje et al. (2004) showed that three alleles at the Dominant White locus in chickens (namely Dominant white, Dun, and Smoky) are all caused by mutations in the gene for the melanocyte-specific protein PMEL17, which is chickens is called PMEL.

History: This trait was one of the five first animal traits (all in chickens) whose Mendelian inheritance was documented (by Bateson and Saunders, 1902; pages 87-124) after the rediscovery of Mendel's result. The other four traits are Rose-comb (OMIA 000884-9031), Pea-comb (OMIA 000782-9031), Polydactyly (OMIA 000810-9031) and Yellow skin (OMIA 001449-9031).

Molecular basis: Adopting a comparative positional cloning approach (by noting that the chromosomal region to which this trait maps in chickens is orthologous with the region of mouse chromosome MMU 10 that includes the PMEL17 gene which when mutated causes the silver mutation in mice), Kerje et al. (2004) were able to identfy the causal mutation: "The Dominant white allele [is] exclusively associated with a 9-bp insertion in exon 10 [of the PMEL17 gene], leading to an insertion of three amino acids in the PMEL17 transmembrane region. Similarly, a deletion of five amino acids in the transmembrane region occurs in the protein encoded by Dun. The Smoky allele shared the 9-bp insertion in exon 10 with Dominant white, as expected from its origin, but also had a deletion of 12 nucleotides in exon 6, eliminating four amino acids from the mature protein." (Kerje et al., 2004). In chickens, the gene encoding PMEL17 is called PMEL.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: White Leghorn (Chicken) (VBO_0000646).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PMEL premelanosome protein Gallus gallus 34 NC_052565.1 (1343416..1339431) PMEL 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.

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
600 White Leghorn (Chicken) Feather colour, dominant white PMEL I insertion, small (<=20) Naturally occurring variant GRCg6a 33 g.7095476_7095477insCTGGGCACC c.2021_2022insCTGGGCACC p.(L674_L675insWAP) ENSGALT00000077972.2; ENSGALP00000051268.2; published as a 9-bp (3aa) insertion (WAP) in exon 10; AY636127 2004 15579702
601 Feather colour, Dun PMEL D delins, small (<=20) Naturally occurring variant GRCg6a 33 g.7095492_7095507delinsC c.2037_2052delinsC p.(L680_A684del) ENSGALT00000077972.2; ENSGALP00000051268.2; published as "a deletion of five amino acids [LGTAA] in the transmembrane region"; AY636129 2004 15579702
602 White Leghorn (Chicken) Feather colour, Smoky PMEL S deletion, small (<=20) Naturally occurring variant GRCg6a 33 g.[7093782_7093793del;7095476_7095477insCTGGGCACC] c.[839_850del;2021_2022insCTGGGCACC] p.[(P280_T283del;L674_L675insWAP)] ENSGALT00000077972.2; ENSGALP00000051268.2; published as a 9-bp insertion in exon 10 shared with Dominant white and a deletion of 12 nucleotides in exon 6, eliminating four amino acids (PTVT); AY636128 2004 15579702

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000373-9031: 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 Ballantyne, M., Woodcock, M., Doddamani, D., Hu, T., Taylor, L., Hawken, R.J., McGrew, M.J. :
Direct allele introgression into pure chicken breeds using Sire Dam Surrogate (SDS) mating. Nat Commun 12:659, 2021. Pubmed reference: 33510156. DOI: 10.1038/s41467-020-20812-x.
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.
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.
Weng, Z., Xu, Y., Li, W., Chen, J., Zhong, M., Zhong, F., Du, B., Zhang, B., Huang, X. :
Genomic variations and signatures of selection in Wuhua yellow chicken. PLoS One 15:e0241137, 2020. Pubmed reference: 33095808. DOI: 10.1371/journal.pone.0241137.
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.
2011 Watt, B., Tenza, D., Lemmon, M.A., Kerje, S., Raposo, G., Andersson, L., Marks, M.S. :
Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic. PLoS Genet 7:e1002286, 2011. Pubmed reference: 21949659. DOI: 10.1371/journal.pgen.1002286.
2010 Karlsson, A.C., Kerje, S., Andersson, L., Jensen, P. :
Genotype at the PMEL17 locus affects social and explorative behaviour in chickens. Br Poult Sci 51:170-7, 2010. Pubmed reference: 20461577. DOI: 10.1080/00071661003745802.
Liu, WB., Chen, SR., Zheng, JX., Xu, GY., Li, JY., Qu, LJ., Yang, N. :
[Detection of chicken dominant white gene PMEL17 mutation site by a pooling method] Yi Chuan 32:148-52, 2010. Pubmed reference: 20176559.
2009 Karlsson, A.C., Kerje, S., Hallböök, F., Jensen, P. :
The dominant white mutation in the PMEL17 gene does not cause visual impairment in chickens. Vet Ophthalmol 12:292-8, 2009. Pubmed reference: 19751488. DOI: 10.1111/j.1463-5224.2009.00714.x.
Kuliawat, R., Santambrogio, L. :
A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions. Eur J Cell Biol 88:653-67, 2009. Pubmed reference: 19679373. DOI: 10.1016/j.ejcb.2009.07.001.
2007 Choi, J.W., Lee, E.Y., Shin, J.H., Zheng, Y., Cho, B.W., Kim, J.K., Kim, H., Han, J.Y. :
Identification of breed-specific DNA polymorphisms for a simple and unambiguous screening system in germline chimeric chickens. J Exp Zool A Ecol Genet Physiol 307:241-8, 2007. Pubmed reference: 17436332. DOI: 10.1002/jez.373.
Nätt, D., Kerje, S., Andersson, L., Jensen, P. :
Plumage color and feather pecking--behavioral differences associated with PMEL17 genotypes in chicken (Gallus gallus). Behav Genet 37:399-407, 2007. Pubmed reference: 17106652. DOI: 10.1007/s10519-006-9125-0.
2004 Kerje, S., Sharma, P., Gunnarsson, U., Kim, H., Bagchi, S., Fredriksson, R., Schütz, K., Jensen, P., von Heijne, G., Okimoto, R., Andersson, L. :
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene. Genetics 168:1507-18, 2004. Pubmed reference: 15579702. DOI: 10.1534/genetics.104.027995.
1997 Ruyterspira, C.P., Gu, Z.L., Vanderpoel, J.J., Groenen, M.A.M. :
Bulked segregant analysis using microsatellites - mapping of the dominant white locus in the chicken Poultry Science 76:386-391, 1997. Pubmed reference: 9057223.
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.
1987 Ziehl, M.A., Hollander, W.F. :
DUN, a new plumage-color mutant at the I-locus in the fowl (Gallus gallus). Iowa State J. Res. 62:337–342, 1987.
1962 Blackwood, C.A., Bohren, B.B., McKean, H.E. :
A mutation at the I locus in an inbred line of White Leghorns and its effect on growth rate Poultry Science 41:487-493, 1962. DOI: 10.3382/ps.0410488.
1949 Warren, DC. :
Linkage relations of autosomal factors in the fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319.
1938 Fisher, R.A. :
Dominance in poultry - Feathered feet, rose comb, internal pigment and pile. Proceedings of the Royal Society, Series B: Biological Sciences 125:25-48, 1938.
Warren, D.C. :
Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938. DOI: 10.1093/genetics/23.1.139.
1936 Warren, D.C., Hutt, F.B. :
Linkage relations of Crest, Dominant White and Frizzling in the fowl American Naturalist 70:379-394, 1936. DOI: 10.1086/280676.
1933 Hutt, F.B. :
Genetics of the fowl. II. a four-gene autosomal linkage group. Genetics 18:82-94, 1933. Pubmed reference: 17246679.
Warren, D.C. :
Nine independently inherited autosomal factors in the domestic fowl. Genetics 18:68-81, 1933. Pubmed reference: 17246678.
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.
1905 Hurst, C.C. :
Experiments with poultry. Reports to the Evolution Committee of the Royal Society 2:131-154, 1905.
1902 Bateson, W., Saunders, E.R. :
Experimental studies in the physiology of heredity. Part II. Poultry Reports to the Evolution Committee of the Royal Society 1:87-124, 1902.

Edit History


  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 10 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 05 Jul 2012
  • Changed by Frank Nicholas on 17 Oct 2012
  • Changed by Imke Tammen2 on 18 Sep 2021
  • Changed by Frank Nicholas on 23 Feb 2022
  • Changed by Imke Tammen2 on 10 Nov 2023