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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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

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

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
1046 Feater colour, blue LOC101880715 missense Naturally occurring variant 1 p.(R644W) 2017 28985565
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:001701-13146: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

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.

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  • Created by Frank Nicholas on 21 Mar 2019