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OMIA:001252-8932 : Feather colour, recessive white in Columba livia (rock pigeon)

In other species: domestic goose , chicken , common canary

Categories: Pigmentation phene

Single-gene trait/disorder: yes

Disease-related: no

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Maclary et al. (2023) investigated piebald pattern in pigeons (see OMIA:000375-8932 : Feather colour, white spotting, EDNRB2-related in Columba livia) and identified as part of this research a variant in EDNRB2 as the likely causal variant for recessive white (white plumage and “bull” (dark brown to black) eye colour): scaffold 507:11167700C>T; p.(E256K). 

Nannan et al. (2024) identified the same missense mutation p.E256K in the EDNRB2 and confirmed that the variant was completely associated with white plumage color in pigeons.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDNRB2 Columba livia - no genomic information (-..-) EDNRB2 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
1633 Recessive white and bull eye EDNRB2 missense Naturally occurring variant 4A g.11167700C>T c.766G>A p.(E256K) 2023 37546953
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001252-8932: 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.

2024 Nannan, M., Wenjun, W., Ran, Z., Yongsheng, S., Rongyan, Z., Hui, C., Sumin, Z., Hui, X. :
Population genomics reveals that a missense mutation in EDNRB2 contributes to white plumage color in pigeons. Poult Sci 103:103225, 2024. Pubmed reference: 38035860. DOI: 10.1016/j.psj.2023.103225.
2023 Maclary, E.T., Wauer, R., Phillips, B., Brown, A., Boer, E.F., Samani, A.M., Shapiro, M.D. :
An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon. PLoS Genet 19:e1010880, 2023. Pubmed reference: 37862332. DOI: 10.1371/journal.pgen.1010880.
Maclary, E.T., Wauer, R., Phillips, B., Brown, A., Boer, E.F., Samani, A.M., Shapiro, M.D. :
An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon. bioRxiv , 2023. Pubmed reference: 37546953. DOI: 10.1101/2023.07.26.550625.

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  • Created by Imke Tammen2 on 07 Sep 2024
  • Changed by Imke Tammen2 on 07 Sep 2024