OMIA:000374-198806 : Feather colour, extended black in Philomachus pugnax

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

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

Mode of inheritance: Autosomal dominant

Considered a defect: 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


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

  • Changed by Frank Nicholas on 13 Sep 2019
  • Created by Frank Nicholas on 13 Sep 2019
  • Changed by Frank Nicholas on 15 May 2020