OMIA:000369-9135 : Feather colour, albinism in Serinus canaria (common canary) |
In other species: northern bobwhite , chicken , budgerigar
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606933 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Acromelanism; pearl
Molecular basis: Guimarães-Moreira et al. (2024) "compared the genomes of pearl and non-pearl canaries and searched for potentially causative genetic mutations. [The authors] results suggest that the pearl phenotype is caused by a mutation in the TYR gene encoding a TYR-P45H missense substitution."
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TYR | tyrosinase | Serinus canaria | 1 | NC_066313.1 (34568274..34610092) | TYR | Homologene, Ensembl , NCBI gene |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1748 | Feather colour, pearl | TYR | missense | Naturally occurring variant | serCan2020 | 1 | NC_066313.1:g.34568603C>A | XM_009102738.4:c.134C>A | XP_009100986.1:p.(P45H) | 2024 | 39377483 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000369-9135: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Guimarães-Moreira, M., Marques, C.I., Afonso, S., Lacerda, B., Carneiro, M., Araújo, P.M. : |
A missense mutation in the tyrosinase gene explains acromelanism in domesticated canaries. Anim Genet 55:838-842, 2024. Pubmed reference: 39377483. DOI: 10.1111/age.13481. |
Edit History
- Created by Imke Tammen2 on 11 Oct 2024
- Changed by Imke Tammen2 on 11 Oct 2024