OMIA:000375-8932 : Feather colour, white spotting, EDNRB2-related in Columba livia (rock pigeon)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Renamed from 'Feather colour, panda/dotted white' [12/08/2023], also called piebald
Species-specific name: Piebalding, piebald
Mapping: Maclary et al. (2021) used quantitative trait locus mapping to investigate eye colour in pigeons and identified two loci that contribute to piebalding.
Maclary et al. (2023): "Using a combination of quantitative trait locus mapping in F2 laboratory crosses and genome-wide association analysis, we identify a locus [on linkage group 15] associated with piebalding across many pigeon breeds. This shared locus harbors a candidate gene, EDNRB2 ... . "
Molecular basis: Maclary et al. (2023) "discover multiple distinct haplotypes at the EDNRB2 locus in piebald pigeons, which include a mix of protein-coding, noncoding, and structural variants that are associated with depigmentation in specific plumage regions." The authors "identified four haplotype groups ... with distinct patterns of shared SNP genotypes that correlate with piebalding in specific body regions." Likely causal variants are reported for each group:
Group3: regulatory variants in conserved non-coding elements (nor further specified)
Group4: tandem duplication of a 37-kb region spanning from intron 1 of VAMP7 to just 5’ of EDNRB2, one of the copies is considered nonfunctional
An additional variant in the EDNRB2 was identified as the likely causal variant for recessive white (white plumage and “bull” (dark brown to black) eye colour): scaffold 507:11167700C>T; p.(E256K).
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|
|EDNRB2||Columba livia||-||no genomic information (-..-)||EDNRB2||Ensembl|
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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|
|1632||Piebald||EDNRB2||Group 4||duplication||Naturally occurring variant||tandem duplication of a 37-kb region spanning from intron 1 of VAMP7 to just 5’ of EDNRB2||2023||37546953|
|1631||Piebald||EDNRB2||Group2||missense||Naturally occurring variant||p.(A42E)||2023||37546953|
|1630||Piebald||EDNRB2||Group1||missense||Naturally occurring variant||p.(R290C)||2023||37546953|
|1633||Recessive white and bull eye||EDNRB2||missense||Naturally occurring variant||scaffold 507||g.11167700C>T||p.(E256K)||2023||37546953|
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||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.|
|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.|
|2021||Maclary, E.T., Phillips, B., Wauer, R., Boer, E.F., Bruders, R., Gilvarry, T., Holt, C., Yandell, M., Shapiro, M.D. :|
|Two genomic loci control three eye colors in the domestic pigeon (Columba livia). Mol Biol Evol 38:5376-5390, 2021. Pubmed reference: 34459920. DOI: 10.1093/molbev/msab260.|
- Created by Imke Tammen2 on 12 Aug 2023
- Changed by Imke Tammen2 on 23 Oct 2023