OMIA:001435-93934 : Feather colour, extended brown in Coturnix japonica
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 incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2006
Species-specific symbol: E
Molecular basis: Nadeau et al. (2006) showed that this feather colour is due to missense mutation in the MC1R gene: "a G-to-A substitution leading to a Glu92Lys mutation . . . is likely to be the causative mutation for the increased melanism in [the] Extended brown" feather-colour phenotype.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Coturnix japonica||-||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|
|256||Feather colour, extended brown||MC1R||missense||Naturally occurring variant||c.?G>A||p.(E92K)||2006||16734695|
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.
|2019||Li, Y.X., Zhang, X.H., Pang, Y.Z., Qi, Y.X., Zhao, S.J. :|
|Construction of MC1R and ASIP eukaryotic expression vector and its regulation of plumage color in Japanese quail (Coturnix japonica). J Poult Sci 56:84-90, 2019. Pubmed reference: 32055201 . DOI: 10.2141/jpsa.0180058.|
|2017||Gluckman, T.L., Mundy, N.I. :|
|The differential expression of MC1R regulators in dorsal and ventral quail plumages during embryogenesis: Implications for plumage pattern formation. PLoS One 12:e0174714, 2017. Pubmed reference: 28355309 . DOI: 10.1371/journal.pone.0174714.|
|2013||Zhang, X.H., Pang, Y.Z., Zhao, S.J., Xu, H.W., Li, Y.L., Xu, Y., Guo, Z., Wang, D.D. :|
|The relationship of plumage colours with MC1R (Melanocortin 1 Receptor) and ASIP (Agouti Signaling Protein) in Japanese quail (Coturnix coturnix japonica). Br Poult Sci 54:306-11, 2013. Pubmed reference: 23639082 . DOI: 10.1080/00071668.2013.780122.|
|2009||Minvielle, F., Cecchi, T., Passamonti, P., Gourichon, D., Renieri, C. :|
|Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40:971-4, 2009. Pubmed reference: 19496774 . DOI: 10.1111/j.1365-2052.2009.01929.x.|
|2006||Nadeau, NJ., Minvielle, F., Mundy, NI. :|
|Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japonica). Anim Genet 37:287-9, 2006. Pubmed reference: 16734695 . DOI: 10.1111/j.1365-2052.2006.01442.x.|
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