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OMIA 001701-13146 : Feather colour, blue in Melopsittacus undulatus

In other species: chicken

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LOC101880715 polyketide synthase-nonribosomal peptide synthetase-like Melopsittacus undulatus - no genomic information (-..-) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Feater colour, blue LOC101880715 missense 1 p.R644W 2017 28985565
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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