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
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: Plumage colour
Molecular basis:
Zhou et al. (2018) discovered "selection signatures using genome-wide comparisons among 40 mallards, 36 indigenous-breed ducks, and 30 Pekin ducks. ... [The authors] identified an ~6.6-kb insertion between exon 1 and exon 2 ... by comparing the genomes of the Pekin duck and its related species, the goose ... . [The authors] analyzed the resequencing data of the 106 ducks and found that this insertion is fixed in Pekin ducks and does not exist in indigenous breeds or mallards ... . This insertion also showed a perfect association with plumage color in the F2 population, as the color of homozygous individuals was completely white and that of heterozygous individuals or individuals without the insertion was colored ... .
Zhang et al. (2023) summarised previous studies: "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. ... [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."
Wang et al. (2024) identified the detailed location and sequence of the large intronic MITF insertion reported previously by Zhou et al. (2018) and Zhang et al. (2023) as a 6634 bp retrotransposon insertion "which triggers a novel transcript of MITF, thereby contributing to the development of white plumage."
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 |
Variants
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1727 | White Pekin (Duck (domestic)) | Feather colour, white, MITF-related | MITF | insertion, gross (>20) | Naturally occurring variant | 13 | intronic insertion of a 6634bp retrotransposon | 2018 | 30018292 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002679-8839: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Wang, K., Hua, G., Li, J., Yang, Y., Zhang, C., Yang, L., Hu, X., Scheben, A., Wu, Y., Gong, P., Zhang, S., Fan, Y., Zeng, T., Lu, L., Gong, Y., Jiang, R., Sun, G., Tian, Y., Kang, X., Hu, H., Li, W. : |
| Duck pan-genome reveals two transposon insertions caused bodyweight enlarging and white plumage phenotype formation during evolution. Imeta 3:e154, 2024. Pubmed reference: 38868520. DOI: 10.1002/imt2.154. | |
| 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:giy027, 2018. Pubmed reference: 29635409. DOI: 10.1093/gigascience/giy027. | |
| Zhou, Z., Li, M., Cheng, H., Fan, W., Yuan, Z., Gao, Q., Xu, Y., Guo, Z., Zhang, Y., Hu, J., Liu, H., Liu, D., Chen, W., Zheng, Z., Jiang, Y., Wen, Z., Liu, Y., Chen, H., Xie, M., Zhang, Q., Huang, W., Wang, W., Hou, S., Jiang, Y. : | |
| An intercross population study reveals genes associated with body size and plumage color in ducks. Nat Commun 9:2648, 2018. Pubmed reference: 30018292. DOI: 10.1038/s41467-018-04868-4. | |
| Zhou, Z., Li, M., Cheng, H., Fan, W., Yuan, Z., Gao, Q., Xu, Y., Guo, Z., Zhang, Y., Hu, J., Liu, H., Liu, D., Chen, W., Zheng, Z., Jiang, Y., Wen, Z., Liu, Y., Chen, H., Xie, M., Zhang, Q., Huang, W., Wang, W., Hou, S., Jiang, Y. : | |
| Author Correction: An intercross population study reveals genes associated with body size and plumage color in ducks. Nat Commun 9:3974, 2018. Pubmed reference: 30254288. DOI: 10.1038/s41467-018-06521-6. | |
| 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
- Changed by Imke Tammen2 on 25 Aug 2024