OMIA:001494-9103 : Feather colour, bronze in Meleagris gallopavo
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155555 (gene) , 266300 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2010
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Meleagris gallopavo||13||NC_015023.2 (17644786..17648112)||MC1R||Homologene, Ensembl , NCBI gene|
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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|
|18||Feather colour, dominant black||MC1R||missense||Naturally occurring variant||c.364A>T||p.(I122F)||2010||20634512|
|19||Feather colour, black-wing bronze||MC1R||missense||Naturally occurring variant||c.887C>T||p.(A296V)||2010||20634512|
|328||Bronze feathers||MC1R||nonsense (stop-gain)||Naturally occurring variant||c.96G>A||2010||20634512|
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.
|2010||Vidal, O., Vinas, J., Pla, C. :|
|Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus in turkey (Meleagris gallopavo). Poult Sci 89:1599-602, 2010. Pubmed reference: 20634512 . DOI: 10.3382/ps.2010-00726.|
|1972||Olsen, MW., Buss, EG. :|
|Segregation of two alleles for color of down in parthenogenetic and normal turkey embryos and poults. Genetics 72:69-75, 1972. Pubmed reference: 5512366 .|
- Created by Frank Nicholas on 21 Jul 2010
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011