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OMIA:001252-9135 : Feather colour, recessive white in Serinus canaria (common canary)

In other species: domestic goose , chicken

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."

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
SCARB1 scavenger receptor class B, member 1 Serinus canaria 15 NC_066329.1 (12348959..12329269) SCARB1 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
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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001252-9135: 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.

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.

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  • Created by Imke Tammen2 on 18 May 2023
  • Changed by Imke Tammen2 on 18 May 2023