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

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, 1902) 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PMEL premelanosome protein Gallus gallus 33 NC_008465.4 (7091954..7095887) 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.

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, dominant white PMEL I insertion, small (<=20) a 9-bp (3aa) insertion (WAP) after amino acid 610 in exon 10 2004 15579702
Feather colour, Dun PMEL deletion, small (<=20) "a deletion of five amino acids in the transmembrane region" 2004 15579702
Feather colour, Smoky PMEL deletion, small (<=20) “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” 2004 15579702

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.
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.
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.
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.
1902 Bateson, W. :
Experimental studies in the physiology of heredity. Part II. Poultry Reports to the Evolutionary 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