OMIA:001701-13146 : Feather colour, blue in Melopsittacus undulatus (budgerigar)
In other species: chicken
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2017
Molecular basis: Cooke et al. (2017): "We find that the blue trait maps to a single amino acid substitution (R644W) in an uncharacterized polyketide synthase (MuPKS) [=LOC101880715]. When we expressed MuPKS heterologously in yeast, yellow pigments accumulated. Mass spectrometry confirmed that these yellow pigments match those found in feathers. The R644W substitution abolished MuPKS activity."
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC101880715||highly reducing polyketide synthase alnA-like||Melopsittacus undulatus||1||NC_047527.1 (114286276..114265615)||LOC101880715||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|
|1046||Feater colour, blue||LOC101880715||missense||Naturally occurring variant||1||p.(R644W)||2017||28985565|
Cite this entry
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.
|2018||Mundy, N.I. :|
|Colouration Genetics: Pretty Polymorphic Parrots. Curr Biol 28:R113-R114, 2018. Pubmed reference: 29408256. DOI: 10.1016/j.cub.2017.12.045.|
|2017||Cloney, R. :|
|Genetic variation: Birds of a feather - genetic mapping of yellow pigmentation. Nat Rev Genet 18:702-703, 2017. Pubmed reference: 29033455. DOI: 10.1038/nrg.2017.87.|
|Cooke, T.F., Fischer, C.R., Wu, P., Jiang, T.X., Xie, K.T., Kuo, J., Doctorov, E., Zehnder, A., Khosla, C., Chuong, C.M., Bustamante, C.D. :|
|Genetic Mapping and Biochemical Basis of Yellow Feather Pigmentation in Budgerigars. Cell 171:427-439.e21, 2017. Pubmed reference: 28985565. DOI: 10.1016/j.cell.2017.08.016.|
- Created by Frank Nicholas on 21 Mar 2019