OMIA:000374-8839 : Feather colour, extended black in Anas platyrhynchos (Mallard)

In other species: Coscoroba swan , black swan , rock pigeon , helmeted guineafowl , chicken , king penguin , Arctic skua , pomarine skua , brown booby , red-footed booby , zebra finch , Lesser snow goose , Bananaquit , gyrfalcon , ruff , Chestnut-bellied monarch , Eleonora's falcon

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Mapping: Liu et al. (2023) "conducted a genome-wide association study (GWAS) on an intercross F2 population of Pekin ducks and mallards (n=722) and identified a 1.57 Mb genetic region (Chr11: 20,176,480-21,750,101 bp) related to duck melanism. Fine mapping by linkage disequilibrium (LD) and Fst analysis narrowed the final candidate region to a region of 22,500 bp (Chr11: 20,677,500-20,700,000 bp) including three coding genes, TCF25, MC1R, and TUBB3. Combined with transcriptome and qRT-PCR analysis, MC1R was identified as the unique genetic locus responsible for black plumage in ducks, and it was significantly more highly expressed in the feather bulbs of black ducks. ... We also identified 52 G>A (Chr11: 20,696,354 G>A) and 376 G>A (Chr11: 20,696,678 G>A) mutations in the MC1R coding region that have been widely studied in ducks. In addition, structural variations (SVs) were screened by nanopore sequencing, and no significant SV was found to be associated with the duck black plumage trait. However, we identified 4 novel SNPs in the MC1R regulator region (Chr11: 20,678,412 G>A, Chr11: 20,679,236 G>A, Chr11: 20,692,496 A>G, and Chr11: 20,692,791 A>G) that had a strong association with the black plumage phenotype of ducks and combined with potential changes in transcription binding affinities. The luciferase reporter gene assay demonstrated that Chr11: 20,678,412 G>A and Chr11: 20,679,236 G>A led to significant promoter activity changes."

Markers: Yu et al. (2013) "performed a sequence characterization of the duck melanocortin 1 receptor (alpha-melanocyte stimulating hormone receptor) (MC1R) gene to analyze the relationship between MC1R polymorphism and the extended black variant in domestic ducks based on the extended black (E) and non-extended black (e+) allele hypothesis of the duck MC1R gene. Both c.52G>A and c.376G>A substitutions are highly associated with the duck extended black variant (P < 0.01), but the novel c.52G>A substitution is more of a fit for the allele hypothesis of the duck MC1R gene." Sultana et al. (2017) investigated "the effect of the MC1R gene on plumage coloration in duck breeds ... . ...Four non-synonymous SNPs, c.52A>G (p.Lys18Glu), and c.376 A>G (p.Ile126Val), c.409G>A (p.Ala137Thr) and c.649C>T (p.Arg217Cys), were associated with the two deduced genotypes (i.e., E/E and e+ /e+) based on plumage color phenotypes." Zhang et al. (2023) identified the same MC1R variants and reported an epistatic effect between MC1R and MITF: "Two non-synonymous SNPs in MC1R (c.52G>A and c.376G>A) were significantly related to duck black plumage, and three SNPs in MITF (chr13:15411658A>G, chr13:15412570T>C and chr13:15412592C>G) were associated with white plumage. Additionally, we 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."

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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Anas platyrhynchos 12 NC_051783.1 (1344482..1343350) MC1R Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000374-8839: 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 Liu, H., Xi, Y., Tang, Q., Qi, J., Zhou, Z., Guo, Z., Fan, W., Hu, J., Xu, Y., Liang, S., Xie, M., Tang, J., Zhang, Y., Hou, S. :
Genetic fine-mapping reveals SNP mutations in the MC1R regulatory region associated with duck melanism. Mol Ecol , 2023. Pubmed reference: 36929535. DOI: 10.1111/mec.16924.
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.
2017 Sultana, H., Seo, D.W., Park, H.B., Choi, N.R., Hoque, R., Bhuiyan, S.A., Heo, K.N., Lee, S.H., Lee, J.H. :
Identification of <i>MC1R</i> SNPs and their Association with Plumage Colors in Asian Duck. J Poult Sci 54:111-120, 2017. Pubmed reference: 32908416. DOI: 10.2141/jpsa.0160047.
2013 Yu, W., Wang, C., Xin, Q., Li, S., Feng, Y., Peng, X., Gong, Y. :
Non-synonymous SNPs in MC1R gene are associated with the extended black variant in domestic ducks (Anas platyrhynchos). Anim Genet 44:214-6, 2013. Pubmed reference: 22591010. DOI: 10.1111/j.1365-2052.2012.02377.x.

Edit History

  • Created by Imke Tammen2 on 19 Mar 2023
  • Changed by Imke Tammen2 on 19 Mar 2023
  • Changed by Imke Tammen2 on 29 Apr 2023