OMIA:001252-9135 : Feather colour, recessive white in Serinus canaria (common canary)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2017
Species-specific description: Toomey et al. (2017) "carried out detailed genomic and biochemical analyses comparing the white recessive with yellow and red breeds of canaries. Biochemical analysis revealed that carotenoids are absent or at very low concentrations in feathers and several tissues of white recessive canaries, consistent with a genetic defect in carotenoid uptake. Using a combination of genetic mapping approaches, we show that the white recessive allele is due to a splice donor site mutation in the scavenger receptor B1 (SCARB1; also known as SR-B1) gene."
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|
|SCARB1||scavenger receptor class B, member 1||Serinus canaria||15||NC_066329.1 (12348959..12329269)||SCARB1||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|
|1558||Feather colour, recessive white||SCARB1||splicing||Naturally occurring variant||NW_022042652.1||g.27474120A>C||Variant in located in the splice-donor site immediately downstream of exon 4 and results in transcript isoforms. Genomic coordinates as listed by Bovo et al., 2023, PMID:37194440.||2017||28465440|
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.
|2023||Bovo, S., Ribani, A., Utzeri, V.J., Taurisano, V., Bertarini, G., Fontanesi, L. :|
|Whole genome sequencing identifies candidate genes and mutations that can explain diluted and other colour varieties of domestic canaries (Serinus canaria). Anim Genet 54:510-525, 2023. Pubmed reference: 37194440. DOI: 10.1111/age.13331.|
|2017||Toomey, M.B., Lopes, R.J., Araújo, P.M., Johnson, J.D., Gazda, M.A., Afonso, S., Mota, P.G., Koch, R.E., Hill, G.E., Corbo, J.C., Carneiro, M. :|
|High-density lipoprotein receptor SCARB1 is required for carotenoid coloration in birds. Proc Natl Acad Sci U S A 114:5219-5224, 2017. Pubmed reference: 28465440. DOI: 10.1073/pnas.1700751114.|
|2008||Perez-Beato, O. :|
|Fundamentals of color genetics in canaries. RoseDog Books. Pittsburgh, Pennsylvania, USA: , 2008.|
- Created by Imke Tammen2 on 18 May 2023
- Changed by Imke Tammen2 on 18 May 2023