OMIA:002679-8839 : Feather colour, white, MITF-related in Anas platyrhynchos (Mallard)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 156845 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Cross-species summary: Plumage colour

Molecular basis: Zhang et al. (2023): "Li et al. [2012] found that two isoforms of MITF (B and M isoforms) were expressed in black feather bulbs while only an M isoform of MITF was expressed in white feather bulbs. Lin et al. [2019] found that g.39807T>G and g.40862G>A of MITF were associated with white plumage in Putian ducks while g.32813G>A of MITF was strongly correlated with white plumage in Liancheng white ducks. Zhang et al. [2018] found thirteen SNPs and two indels associated with white plumage in ducks. Yang et al. [2019] have found that six SNPs of MITF are associated with plumage color in Kaiya–Liancheng F2 offspring. Guo et al. [2022] found that MITF is closely related to white plumage color. In this study, we identified three SNPs in MITF (chr13:15411658A>G, chr13:15412570T>C, and chr13:15412592C>G) in white-feathered ducks, which are located in the intron region. The above findings showed that MITF was significantly associated with white plumage color. ... [The authors] detected the 6.6kb insertion in ducks and found this insertion was present in ducks with white plumage. This suggests that functional mutations in MITF are key factors in the white plumage phenotype of ducks. ... [The authors] also identified the epistatic interactions between causing loci. Some ducks with white plumage carry the c.52G>A and c.376G>A in MC1R, which also compensated for black and spotty plumage color phenotypes, suggesting that MC1R and MITF have an epistatic effect." Lin et al. (2023) "identified the MITF-M as a pivotal gene responsible for the regulation of melanism in ducks. The elevation in MITF-M mRNA levels, mediated by multiple SNPs within its promoter region, represents a critical regulatory mechanism driving the melanism phenotype in Putian black ducks."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Anas platyrhynchos 13 NC_051784.1 (5282692..5178923) MITF Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002679-8839: 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.

2023 Lin, R., Zhao, F., Xiong, T., Lai, L., Li, H., Lin, W., Xiao, T., Lin, W. :
Genetic mapping identifies SNP mutations in MITF-M promoter associated with melanin formation in Putian black duck. Poult Sci 103:103191, 2023. Pubmed reference: 37980740. DOI: 10.1016/j.psj.2023.103191.
Zhang, X., Zhu, T., Wang, L., Lv, X., Yang, W., Qu, C., Li, H., Wang, H., Ning, Z., Qu, L. :
Genome-wide association study reveals the genetic basis of duck plumage colors. Genes (Basel) 14:856, 2023. Pubmed reference: 37107611. DOI: 10.3390/genes14040856.
2022 Guo, Q., Jiang, Y., Wang, Z., Bi, Y., Chen, G., Bai, H., Chang, G. :
Genome-wide analysis identifies candidate genes encoding feather color in ducks. Genes (Basel) 13:1249, 2022. Pubmed reference: 35886032. DOI: 10.3390/genes13071249.
2019 Lin, R., Lin, W., Zhou, S., Chen, Q., Pan, J., Miao, Y., Zhang, M., Huang, Z., Xiao, T. :
Integrated analysis of mRNA expression, CpG island methylation, and polymorphisms in the MITF gene in ducks (Anas platyrhynchos). Biomed Res Int 2019:8512467, 2019. Pubmed reference: 31662999. DOI: 10.1155/2019/8512467.
Yang, L., Mo, C., Shen, W., Du, X., Akbar Bhuiyan, A., Li, L., Li, N., Gong, Y., Li, S. :
The recessive C locus in the MITF gene plays a key regulatory role in the plumage colour pattern of duck (Anas platyrhynchos). Br Poult Sci 60:105-108, 2019. Pubmed reference: 30595026. DOI: 10.1080/00071668.2018.1564237.
2018 Zhang, Z., Jia, Y., Almeida, P., Mank, J.E., van Tuinen, M., Wang, Q., Jiang, Z., Chen, Y., Zhan, K., Hou, S., Zhou, Z., Li, H., Yang, F., He, Y., Ning, Z., Yang, N., Qu, L. :
Whole-genome resequencing reveals signatures of selection and timing of duck domestication. Gigascience 7, 2018. Pubmed reference: 29635409. DOI: 10.1093/gigascience/giy027.
2015 Apopo, S., Liu, H., Jing, L., Du, X., Xie, S., Gong, Y., Xu, R., Li, S. :
Identification and profiling of microRNAs associated with white and black plumage pigmentation in the white and black feather bulbs of ducks by RNA sequencing. Anim Genet 46:627-35, 2015. Pubmed reference: 26369256. DOI: 10.1111/age.12343.
2012 Li, S., Wang, C., Yu, W., Zhao, S., Gong, Y. :
Identification of genes related to white and black plumage formation by RNA-Seq from white and black feather bulbs in ducks. PLoS One 7:e36592, 2012. Pubmed reference: 22615785. DOI: 10.1371/journal.pone.0036592.

Edit History

  • Created by Imke Tammen2 on 29 Apr 2023
  • Changed by Imke Tammen2 on 29 Apr 2023
  • Changed by Imke Tammen2 on 21 Nov 2023