OMIA:000374-56313 : Feather colour, extended black in Tyto alba (barn owl) |
In other species: Mallard , Coscoroba swan , black swan , rock pigeon , helmeted guineafowl , chicken , king penguin , Arctic skua , pomarine skua , brown booby , red-footed booby , zebra finch , Lesser snow goose , Bananaquit , gyrfalcon , ruff , 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
Disease-related: no
Key variant known: yes
Year key variant first reported: 2015
Species-specific name: rufous versus white plumage
Species-specific description: San Jose et al. (2015) investigated "how MC1R is related to within-species sexual dimorphism, and thereby to sex-specific selection ... in the barn owl (Tyto alba), a species showing pronounced variation in the degree of reddish pheomelanin-based coloration and in the number and size of black feather spots. [The authors] found that a valine (V)-to-isoleucine (I) substitution at position 126 explains up to 30% of the variation in the three melanin-based colour traits and in feather melanin content. Interestingly, MC1R genotypes also differed in the degree of sexual colour dimorphism, with individuals homozygous for the II MC1R variant being 2 times redder and 2.5 times less sexually dimorphic than homozygous individuals for the VV MC1R variant."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MC1R | melanocortin 1 receptor | Tyto alba | NW_022658193.1 (848..1900) | MC1R | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1741 | Feather colour, rufous | MC1R | R | missense | Naturally occurring variant | T.alba_DEE_v4.0 | Super-scaffold 26 | NW_024881300.1:g.22522039G>A | c.376G>A | p.(V126I) | valine allele is associated with whiter plumage colorations, whereas the isoleucine allele is associated to redder plumage (rufous) coloration | 2015 | 25857339 | Genomic coordinates as reported by Cumer et al. 2024 (PMID:38196365) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000374-56313: 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 | Cumer, T., Machado, A.P., San-Jose, L.M., Ducrest, A.L., Simon, C., Roulin, A., Goudet, J. : |
| The genomic architecture of continuous plumage colour variation in the European barn owl (Tyto alba). Proc Biol Sci 291:20231995, 2024. Pubmed reference: 38196365. DOI: 10.1098/rspb.2023.1995. | |
| 2022 | Kvalnes, T., Sæther, B.E., Engen, S., Roulin, A. : |
| Density-dependent selection and the maintenance of colour polymorphism in barn owls. Proc Biol Sci 289:20220296, 2022. Pubmed reference: 35642371. DOI: 10.1098/rspb.2022.0296. | |
| 2017 | San-Jose, L.M., Ducrest, A.L., Ducret, V., Simon, C., Richter, H., Wakamatsu, K., Roulin, A. : |
| MC1R variants affect the expression of melanocortin and melanogenic genes and the association between melanocortin genes and coloration. Mol Ecol 26:259-276, 2017. Pubmed reference: 27664794. DOI: 10.1111/mec.13861. | |
| San-Jose, L.M., Ducret, V., Ducrest, A.L., Simon, C., Roulin, A. : | |
| Beyond mean allelic effects: A locus at the major color gene MC1R associates also with differing levels of phenotypic and genetic (co)variance for coloration in barn owls. Evolution 71:2469-2483, 2017. Pubmed reference: 28861897. DOI: 10.1111/evo.13343. | |
| 2015 | Roulin, A., Jensen, H. : |
| Sex-linked inheritance, genetic correlations and sexual dimorphism in three melanin-based colour traits in the barn owl. J Evol Biol 28:655-66, 2015. Pubmed reference: 25656218. DOI: 10.1111/jeb.12596. | |
| San-Jose, L.M., Ducrest, A.L., Ducret, V., Béziers, P., Simon, C., Wakamatsu, K., Roulin, A. : | |
| Effect of the MC1R gene on sexual dimorphism in melanin-based colorations. Mol Ecol 24:2794-808, 2015. Pubmed reference: 25857339. DOI: 10.1111/mec.13193. |
Edit History
- Created by Imke Tammen2 on 07 Sep 2024
- Changed by Imke Tammen2 on 07 Sep 2024