OMIA:000368-8869 : Feather colour, generic in Cygnus olor (mute swan)

In other species: birds , ducks , Mallard , domestic goose , swan goose , Muscovy duck , rock pigeon , guineafowls , chicken , Indian peafowl , Ring-necked pheasant , turkey , common canary , Great Tit , emperor penguin , carrion crow , Eurasian bullfinch , white wagtail , common cuckoo , barn owl , Japanese quail , tawny owl , red-backed fairy wren , hooded crow , white-winged fairy-wren , yellow-fronted tinkerbird , superb starling , golden-collared manakin , South polar skua , White-collared manakin , red-fronted tinkerbird

Categories: Pigmentation phene

Mendelian trait/disorder: unknown

Considered a defect: no

Molecular basis: Pointer and Mundy (2008) reported polymorphisms in the MC1R gene but could not discern a clear association between these polymorphisms and feather colour (including black versus white) in swans. By comparing feather-colour candidate genes in genome assemblies of the black swan (Cygnus atratus) and the (white) mute swan (Cygnus olor), Karawite et al. (2023) "observed that SLC45A2 in the mute swan had a nucleotide deletion in the open reading frame instigating a frame-shift mutation and an in-frame early stop codon . . . [which] . . . "suggest that this deletion in SLC45A2 is a candidate genetic change that could be responsible for the white plumage in white swans in the genus Cygnus". While this evidence is not sufficient to conclude that the deletion is a likely causal variant, it did enable the authors to draw the intriguing conclusion that "should a mutation of SLC45A2 have resulted in the differential plumage of the black and mute swan, it would suggest that the last common ancestor of these birds was, in fact, black. This is direct contrast to the metaphor of “black swan events” that are so defined because of their unprecedented and unexpected nature. Instead, it would appear that at one point in history black plumage for the swan was the norm rather than the exception." Chong et al. (2023) also "present two high-quality genomes for C. olor and C. atratus ... . A comparative analysis unveiled three genes (TYR, SLC45A2, and SLC7A11) with structural variants in the melanogenic pathway. Notably, [the authors] also identified a novel gene, PWWP domain containing 2A (PWWP2A), that is related to plumage color, for the first time. Using targeted gene modification analysis, [the authors] demonstrated the potential genetic effect of the PWWP2A variant on pigment gene expression and melanin production."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000368-8869: 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 Chong, Y., Tu, X., Lu, Y., Gao, Z., He, X., Hong, J., Wu, J., Wu, D., Xi, D., Deng, W. :
Two high-quality Cygnus genome assemblies reveal genomic variations associated with plumage color. Int J Mol Sci 24:16953, 2023. Pubmed reference: 38069278. DOI: 10.3390/ijms242316953.
Karawita, A.C., Cheng, Y., Chew, K.Y., Challagulla, A., Kraus, R., Mueller, R.C., Tong, M.Z.W., Hulme, K.D., Bielefeldt-Ohmann, H., Steele, L.E., Wu, M., Sng, J., Noye, E., Bruxner, T.J., Au, G.G., Lowther, S., Blommaert, J., Suh, A., McCauley, A.J., Kaur, P., Dudchenko, O., Aiden, E., Fedrigo, O., Formenti, G., Mountcastle, J., Chow, W., Martin, F.J., Ogeh, D.N., Thiaud-Nissen, F., Howe, K., Tracey, A., Smith, J., Kuo, R.I., Renfree, M.B., Kimura, T., Sakoda, Y., McDougall, M., Spencer, H.G., Pyne, M., Tolf, C., Waldenström, J., Jarvis, E.D., Baker, M.L., Burt, D.W., Short, K.R. :
The swan genome and transcriptome, it is not all black and white. Genome Biol 24:13, 2023. Pubmed reference: 36683094. DOI: 10.1186/s13059-022-02838-0.
2008 Pointer, MA., Mundy, NI. :
Testing whether macroevolution follows microevolution: are colour differences among swans (Cygnus) attributable to variation at the MCIR locus? BMC Evol Biol 8:249, 2008. Pubmed reference: 18789136. DOI: 10.1186/1471-2148-8-249.

Edit History

  • Created by Imke Tammen2 on 08 Jan 2024
  • Changed by Imke Tammen2 on 08 Jan 2024