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 , , brown booby , zebra finch , ruff , rock pigeon , Eleonora's falcon , pomarine skua , king penguin

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene)

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Falco rusticolus - no genomic information (-..-) MC1R Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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

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.
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.

Edit History


  • 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