OMIA:001701-60466 : Feather colour, blue in Agapornis personatus (yellow-collared lovebird) |
In other species: chicken , budgerigar , Fischer's lovebird
Categories: Pigmentation phene
Single-gene trait/disorder: yes
Mode of inheritance: Recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
Molecular basis: Ke et al. (2024) "investigated the genetic basis of the blue phenotypes in two species of Agapornis parrots, Fischer's lovebird (A. fischeri) and Yellow-collared lovebird (A. personatus). Using whole-genome data, we identified a single genomic region with size <2 Mb to be strongly associated with the color difference between blue and wild-type (WT) birds in both species. Surprisingly, we discovered that the mutation associated with the blue Agapornis phenotype [omia.variant:1671, c.1930C>T, p.(R644W)] was identical to the previously described substitution causing the functional change of MuPKS in budgerigars."
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MuPKS | Agapornis personatus | - | no genomic information (-..-) | MuPKS | Ensembl |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1671 | Feather colour, blue | MuPKS | missense | Naturally occurring variant | c.1930C>T | p.(R644W) | 2024 | 38528953 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001701-60466: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Ke, F., van der Zwan, H., Poon, E.S.K., Cloutier, A., Van den Abeele, D., van der Sluis, R., Sin, S.Y.W. : |
Convergent evolution of parrot plumage coloration. PNAS Nexus 3:pgae107, 2024. Pubmed reference: 38528953. DOI: 10.1093/pnasnexus/pgae107. |
Edit History
- Created by Imke Tammen2 on 05 Apr 2024
- Changed by Imke Tammen2 on 05 Apr 2024
- Changed by Imke Tammen2 on 06 Sep 2024