OMIA:001308-8932 : Short beak in Columba livia
In other species: Japanese quail
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Sex-linked
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: Short bill
Species-specific symbol: Ku2
Inheritance: Boer et al. (2021) “results support the model that pigeon beak length is a polygenic trait controlled largely by one sex-linked factor.”
Mapping: Boer et al. (2021): “Classical genetic experiments suggest that pigeon beak length is regulated by a small number of genetic factors, one of which is sex linked (Ku2 locus) [Christie and Wriedt,1924; Hollander, 1983; Sell, 2012]. … Using geometric morphometrics and quantitative trait locus (QTL) mapping on an F2 intercross between a short-beaked Old German Owl (OGO) and a medium-beaked Racing Homer (RH), we identified a single Z chromosome locus that explains a majority of the variation in beak morphology in the F2 population.”
Molecular basis: Boer et al. (2021) “scanned for genomic variants associated with beak length across diverse pigeon breeds by comparing resequenced genomes of 56 short-beaked individuals from 31 breeds (7 owl and 24 non-owl) to 121 genomes from 58 medium- or long-beaked breeds and feral pigeons … . … the short-beak allele identified in our QTL mapping experiments is not specific to either the OGO cross founder breed or the owl family. Instead, the short-beak allele on the Z chromosome likely arose once and was repeatedly selected in different unrelated breeds. …The single most significantly differentiated SNP genome-wide (wcFST = 0.88, pFST = 0) is located at scaffold position ScoHet5_445.1:6568443. The non-reference allele causes a missense substitution in the seventh exon of ROR2 (ROR2C1087T, hereafter the Ku2 allele) in short-beaked pigeons.”
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ROR2||receptor tyrosine kinase-like orphan receptor 2||Columba livia||NW_004973269.1 (788655..660381)||ROR2||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|
|1349||Short beak||ROR2||Ku2||missense||Naturally occurring variant||Cliv_2.1||c.1087C>T||Genomic position on scaffold ScoHet5_445.1:6568443; non-reference allele causes an arginine-to-cysteine substitution in the seventh exon of ROR2 (Boer et al., 2021)||2021||34551284|
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.
|2021||Boer, E.F., Van Hollebeke, H.F., Maclary, E.T., Holt, C., Yandell, M., Shapiro, M.D. :|
|A ROR2 coding variant is associated with craniofacial variation in domestic pigeons. Curr Biol :, 2021. Pubmed reference: 34551284 . DOI: 10.1016/j.cub.2021.08.068.|
|2012||Sell, A. :|
|Pigeon Genetics: Applied Genetics in the Domestic Pigeon. Sell Publishing :, 2012.|
|1983||Hollander, W.F. :|
|Origins and excursions in pigeon genetics: A compilation. The Ink Spot :, 1983.|
|1924||Christie, W., Wriedt, C. :|
|Die Vererbung von Zeichnungen, Farben und anderen Charakteren bei Tauben. Z. Indukt. Abstamm. Vererbungsl. 32:233-98, 1924.|
- Changed by Imke Tammen2 on 26 Sep 2021
- Created by Imke Tammen2 on 26 Sep 2021