OMIA:000374-120794 : Feather colour, extended black in Falco rusticolus
In other species: chicken , red-footed booby , black swan , Coscoroba swan , Bananaquit , helmeted guineafowl , Lesser snow goose , Arctic skua , Chestnut-bellied monarch , brown booby , zebra finch , ruff , 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 co-dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2012
Molecular basis: Zhan et al. (2012): "A single nucleotide polymorphism (MC1R: c.376A>G) in the MC1R gene was found to be highly correlated with pigment phenotype in the Gyrfalcon. Homozygous genotypes c.376GG and c.376AA were found to dominate the extreme white and dark plumage types respectively, and heterozygotes occurred mainly in intermediate phenotypes. However, some heterozygotes were associated with extreme phenotypes, indicating that melanism/albinism might also involve other loci."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Falco rusticolus||-||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|
|1329||Feather colour, extended black||MC1R||missense||Naturally occurring variant||c.376A>G||p.(I126V)||2012||22497627|
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||Johnson, J.A., Ambers, A.D., Burnham, K.K. :|
|Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 receptor gene. J Hered 103:315-21, 2012. Pubmed reference: 22504110 . DOI: 10.1093/jhered/ess023.|
|Zhan, X.J., Dixon, A., Fox, N.C., Bruford, M.W. :|
|Missense SNP of the MC1R gene is associated with plumage variation in the Gyrfalcon (Falco rusticolus). Anim Genet 43:460-2, 2012. Pubmed reference: 22497627 . DOI: 10.1111/j.1365-2052.2011.02263.x.|
- Created by Frank Nicholas on 06 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Mar 2012
- Changed by Imke Tammen2 on 10 Aug 2021