OMIA 001449-9031 : Skin/shank colour, yellow in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611740

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2008

Species-specific name: Yellow skin; Yellow shanks

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 Dominant White (OMIA 000373-9031).

Inheritance: As early as 1935, it was established that yellow skin (most visible as yellow shanks) in chickens is due to homozygosity for a recessive autosomal allele (Knox, 1935). The other allele identifed at the locus, the dominant white allele, gives rise to white skin.

Molecular basis: By some excellent biological detective work, Eriksson et al. (2008) have shown the yellow-skin gene to be the gene encoding beta-carotene dioxygenase 2 (BCDO2). Interestingly, the yellow allele that is so common in domestic chickens throughout the world actually orginates not from the red jungle fowl but from the grey jungle fowl, thereby indicating a hybrid origin of the domestic chicken. Because there are so many difference in the sequence between the two alleles, the actual causal difference has not yet been identified but it must be regulatory, since the authors show that the yellow skin allele is expressed in liver but not in skin.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BCO2 beta-carotene oxygenase 2 Gallus gallus 24 NC_006111.5 (6160770..6140066) BCO2 Homologene, Ensembl, NCBI gene


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.
2013 Siwek, M., Wragg, D., Sławińska, A., Malek, M., Hanotte, O., Mwacharo, J.M. :
Insights into the genetic history of Green-legged Partridgelike fowl: mtDNA and genome-wide SNP analysis. Anim Genet :, 2013. Pubmed reference: 23611337. DOI: 10.1111/age.12046.
2012 Wragg, D., Mwacharo, J.M., Alcalde, J.A., Hocking, P.M., Hanotte, O. :
Analysis of genome-wide structure, diversity and fine mapping of Mendelian traits in traditional and village chickens. Heredity (Edinb) 109:6-18, 2012. Pubmed reference: 22395157. DOI: 10.1038/hdy.2012.9.
2010 Sirri, F., Petracci, M., Bianchi, M., Meluzzi, A. :
Survey of skin pigmentation of yellow-skinned broiler chickens. Poult Sci 89:1556-61, 2010. Pubmed reference: 20548087. DOI: 10.3382/ps.2009-00623.
2008 Eriksson, J., Larson, G., Gunnarsson, U., Bed'hom, B., Tixier-Boichard, M., Stromstedt, L., Wright, D., Jungerius, A., Vereijken, A., Randi, E., Jensen, P, Andersson, L. :
Identification of the Yellow Skin Gene Reveals a Hybrid Origin of the Domestic Chicken PLoS Genetics 4:(2):e1000010, 2008. Pubmed reference: 18454198. DOI: 10.1371/journal.pgen.1000010.
Pointer, MA., Mundy, NI. :
Carotenoid genetics: Chicken skin sheds light on carotenoid genetics. Heredity 101:393–394, 2008. Pubmed reference: 18665184. DOI: 10.1038/hdy.2008.82.
2000 Schmid, M., Nanda, I., Guttenbach, M., Steinlein, C., Hoehn, M., Schartl, M., Haaf, T., Weigend, S., Fries, R., Buerstedde, J.M., Wimmers, K., Burt, D.W., Smith, J., A'Hara, S., Law, A., Griffin, D.K., Bumstead, N., Kaufman, J., Thomson, P.A., Burke, T., Groenen, M.A., Crooijmans, R.P., Vignal, A., Fillon, V., Morisson, M., Pitel, F., Tixier-Boichard, M., Ladjali-Mohammedi, K., Hillel, J., Mäki-Tanila, A., Cheng, H.H., Delany, M.E., Burnside, J., Mizuno, S. :
First report on chicken genes and chromosomes 2000. Cytogenet Cell Genet 90:169-218, 2000. Pubmed reference: 11124517.
1935 Knox, CW. :
The Inheritance of Shank Color in Chickens. Genetics 20:529-44, 1935. Pubmed reference: 17246775.
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.
Bateson, W., Saunders, E.R. :
The facts of heredity in the light of Mendel's discovery Reports to the Evolution Committee of the Royal Society 1:125-160, 1902.

Edit History

  • Created by Frank Nicholas on 05 Mar 2008
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 02 Jul 2012
  • Changed by Frank Nicholas on 05 Jul 2012
  • Changed by Frank Nicholas on 05 Dec 2012
  • Changed by Frank Nicholas on 03 Jul 2013
  • Changed by Frank Nicholas on 02 Sep 2013