OMIA:000374-198806 : Feather colour, extended black in Philomachus pugnax (ruff) |
In other species: Mallard , Coscoroba swan , black swan , rock pigeon , helmeted guineafowl , chicken , king penguin , Arctic skua , pomarine skua , barn owl , brown booby , red-footed booby , zebra finch , Lesser snow goose , Bananaquit , gyrfalcon , Oriental honey-buzzard , Chestnut-bellied monarch , Eleonora's falcon
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 266300 (trait) , 155555 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: no
Key variant known: yes
Year key variant first reported: 2016
Species-specific description: Lamichhaney et al. (2016): "The ruff is a Palearctic wader with a spectacular lekking behavior where highly ornamented males compete for females . . . . This bird has one of the most remarkable mating systems in the animal kingdom, comprising three different male morphs (independents, satellites and faeders) that differ in behavior, plumage color and body size."
Molecular basis: Lamichhaney et al. (2016) "confirmed complete association between the Satellite allele and . . . four missense mutations, whereas the faeder was heterozygous for the variant encoding p.His207Arg and three other missense mutations . . . . The p.His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby [see OMIA 000374-57662] . . . . We propose that the MC1R allele on Satellite chromosomes, possibly together with altered metabolism of sex hormones, underlies the white color of ornamental feathers in satellites. To be causal, this allele must have a dominant effect, as satellites are always heterozygous."
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | Philomachus pugnax | NW_015090842.1 (10201411..10202590) | MC1R | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000374-198806: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2016 | Lamichhaney, S., Fan, G., Widemo, F., Gunnarsson, U., Thalmann, D.S., Hoeppner, M.P., Kerje, S., Gustafson, U., Shi, C., Zhang, H., Chen, W., Liang, X., Huang, L., Wang, J., Liang, E., Wu, Q., Lee, S.M., Xu, X., Höglund, J., Liu, X., Andersson, L. : |
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax). Nat Genet 48:84-8, 2016. Pubmed reference: 26569123. DOI: 10.1038/ng.3430. |
Edit History
- Created by Frank Nicholas on 13 Sep 2019
- Changed by Frank Nicholas on 13 Sep 2019
- Changed by Frank Nicholas on 15 May 2020