OMIA 000374-57662 : Feather colour, extended black in Sula sula
In other species: chicken , black swan , Coscoroba swan , Bananaquit , helmeted guineafowl , gyrfalcon , Lesser snow goose , Arctic skua , Chestnut-bellied monarch , brown booby , zebra finch , ruff , rock pigeon , Eleonora's falcon , pomarine skua , king penguin
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2007
Species-specific description: Baião et al. (2007): "The red-footed booby (Sula sula) is considered one of the most polymorphic seabirds, with 3 recognized major adult plumage types: 1) white, 2) white-tailed brown, and 3) brown and several degrees of intermediates."
Molecular basis: Baião et al. (2007): "the white/melanic polymorphism observed in this species is perfectly associated with 2 point substitutions, Val85Met and His207Arg, at the melanocortin-1 receptor (MC1R) gene. . . . All the white morph red-footed boobies sampled (N = 47) were homozygous for the Val85 and the His207 alleles, whereas all the melanic birds (brown, white-tailed brown, and intermediates) sampled (N = 84) were homozygous or heterozygous for the Met85 and Arg207 alleles. . . . Furthermore, the Val85Met point substitution has been previously shown to be associated with melanic phenotypes in the lesser snow goose (Anser c. caerulescens), suggesting parallel evolution of the melanic allele, and hence, melanism, between these 2 distantly related species. We also compared the MC1R locus in red-footed boobies with a nonpolymorphic congener, the Nazca booby (Sula granti), in which all adults are white. We found that Nazca boobies present the same genotype at sites 85 and 207 [namely 85Val and 207His] as white morph red-footed boobies."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Sula sula||-||no genomic information (-..-)||MC1R||Ensembl|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1100||White plumage||MC1R||haplotype||Naturally occurring variant||p.(M85V) + p.(R207H)||2007||17602182|
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.
|2012||Baião, P.C., Parker, P.G. :|
|Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes). J Hered 103:322-9, 2012. Pubmed reference: 22351934. DOI: 10.1093/jhered/esr151.|
|2007||Baião, P.C., Schreiber, E., Parker, P.G. :|
|The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 receptor (MC1R) analysis. J Hered 98:287-92, 2007. Pubmed reference: 17602182. DOI: 10.1093/jhered/esm030.|
- Created by Frank Nicholas on 24 Jan 2008
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Mar 2012
- Changed by Frank Nicholas on 13 Sep 2019