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

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611740 (gene)

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 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 Dominant White (OMIA 000373-9031).

Inheritance: Know (1935) confirmed that yellow skin (most visible as yellow shanks) in chickens is due to homozygosity for a recessive autosomal allele.

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 oxygenase 2 (BCO2). Interestingly, the yellow allele that is so common in domestic chickens throughout the world actually originates 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. Wang et al. (2023): "Scanning for the presence of skin color related SNPs (G>A chr24: 6,264,085 bp, A>G chr24: 6,273,428 bp and G>A chr24: 6,287,900 bp, WUGSC 2.1/galGal3) between yellow-skin and white-skin chicken did not lead to the identification of previously reported SNPs [Eriksson et al. 2008]. An explanation for this discrepancy may be related to differences in the chicken breeds used in the two studies. Instead, we found a new SNP in the BCO2 gene, which, when tested in other Chinese indigenous chicken breeds, may be used as a genetic marker associated with skin color. The G/A mutation found in exon 6 of BCO2 (c.890A>G, GenBank accession No. XM_417929.6) was a same-sense mutation and did not directly change the amino acids of protein, but they were not entirely negligible either, as they affected BCO2 gene expression."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BCO2 beta-carotene oxygenase 2 Gallus gallus 24 NC_052555.1 (6186951..6166113) BCO2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001449-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Zhao, X., Wen, J., Zhang, X., Zhang, J., Zhu, T., Wang, H., Yang, W., Cao, G., Xiong, W., Liu, Y., Qu, C., Ning, Z., Qu, L. :
Significant genomic introgression from grey junglefowl (Gallus sonneratii) to domestic chickens (Gallus gallus domesticus). J Anim Sci Biotechnol 15:45, 2024. Pubmed reference: 38556896. DOI: 10.1186/s40104-024-01006-7.
2023 He, S., Ren, T., Lin, W., Yang, X., Hao, T., Zhao, G., Luo, W., Nie, Q., Zhang, X. :
Identification of candidate genes associated with skin yellowness in yellow chickens. Poult Sci 102:102469, 2023. Pubmed reference: 36709583. DOI: 10.1016/j.psj.2022.102469.
Wang, Y., Gan, S., Luo, C., Liu, S., Ma, J., Luo, W., Lin, C., Shu, D., Qu, H. :
Variations in BCO2 coding sequence causing a difference in carotenoid concentration in the skin of Chinese indigenous chicken. Genes (Basel) 14:671, 2023. Pubmed reference: 36980942. DOI: 10.3390/genes14030671.
Zhao, C., Hu, B., Zhang, Z., Luo, Q., Nie, Q., Zhang, X., Li, H. :
Detection of CD36 gene polymorphism associated with chicken carcass traits and skin yellowness. Poult Sci 102:102691, 2023. Pubmed reference: 37120870. DOI: 10.1016/j.psj.2023.102691.
2021 Wu, J., Lin, Z., Chen, G., Luo, Q., Nie, Q., Zhang, X., Luo, W. :
Characterization of chicken skin yellowness and exploration of genes involved in skin yellowness deposition in chicken. Front Physiol 12:585089, 2021. Pubmed reference: 33867996. DOI: 10.3389/fphys.2021.585089.
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.
2017 Xu, J., Lin, S., Gao, X., Nie, Q., Luo, Q., Zhang, X. :
Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed. J Genet 96:977-983, 2017. Pubmed reference: 29321357. DOI: 10.1007/s12041-017-0862-z.
2016 Jin, S., Lee, J.H., Seo, D.W., Cahyadi, M., Choi, N.R., Heo, K.N., Jo, C., Park, H.B. :
A major locus for quantitatively measured shank skin color traits in Korean native chicken. Asian-Australas J Anim Sci 29:1555-1561, 2016. Pubmed reference: 27383802. DOI: 10.5713/ajas.16.0183.
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 44:522-532, 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., Saunders, E.R. :
Experimental studies in the physiology of heredity. Part III. The facts of heredity in the light of Mendel's discovery Reports to the Evolution Committee of the Royal Society 1:125-160, 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 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
  • Changed by Frank Nicholas on 28 Apr 2020
  • Changed by Imke Tammen2 on 23 Apr 2021
  • Changed by Frank Nicholas on 23 Feb 2022
  • Changed by Frank Nicholas on 07 Mar 2022
  • Changed by Imke Tammen2 on 02 Feb 2023
  • Changed by Imke Tammen2 on 30 Mar 2023