OMIA:000240-8932 : Crest in Columba livia (rock pigeon) |
In other species: Mallard , domestic goose , chicken , budgerigar , ringneck dove
Categories: Integument (skin) phene
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Also called feather-crested head.
Species-specific description: As summarised by Vickrey et al. (2015), "the head crest of domestic pigeons is a recessive phenotype characterized by reversed polarity of the neck and occipital feathers, causing the feathers to grow in a cranial rather than caudal direction".
Mapping: Zhang et al. (2024) investigated the crest trait of the Taihu Dianzi pigeon and identified six SNPs significantly associated with the crest trait through GWAS and proposed SMYD and STOX2 as candidate genes for further experimental verification.
Molecular basis: Shapiro et al. (2013) reported that "All 8 crested birds were homozygous for a T nucleotide at scaffold 612, position 596613 (hereafter, “cr” allele), while uncrested birds were heterozygous (n=3) or homozygous (n=30, including the uncrested outgroup C. rupestris) for the putatively ancestral C nucleotide (“+” allele). These results were consistent with the known simple recessive architecture of the trait. . . . we genotyped an additional 61 crested birds from 22 breeds, and 69 uncrested birds from 57 breeds, and found a perfect association between cr/cr genotype and the crest phenotype". As reported by Vickrey et al. (2016), the SNP results in "a single amino acid substitution (Arg758Cys) in the active site of the kinase domain of Ephrin receptor B2".
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
EPHB2 | EPH receptor B2 | Columba livia | 21 | NC_088622.1 (7011629..7156138) | EPHB2 | Homologene, Ensembl , NCBI gene |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Crest | EPHB2 | cr | missense | Naturally occurring variant | c.???C>T | p.(R758C) | 2013 | 23371554 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000240-8932: 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 | Zhang, R., Mu, C., Chang, L., Shen, X., Bu, Z., Yang, M., Fu, S., Tang, Q., Liu, P., Yang, X. : |
Whole-genome sequencing for identifying candidate genes related to the special phenotypes of the Taihu Dianzi pigeon. Animals (Basel) 14:1047, 2024. Pubmed reference: 38612286. DOI: 10.3390/ani14071047. | |
2015 | Caspermeyer, J. : |
Birds of a Feather: Pigeon Head Crest Findings Extend to Domesticated Doves. Mol Biol Evol 32:2801, 2015. Pubmed reference: 26285654. DOI: 10.1093/molbev/msv162. | |
Vickrey, A.I., Domyan, E.T., Horvath, M.P., Shapiro, M.D. : | |
Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Missense Mutations in EphB2. Mol Biol Evol 32:2657-64, 2015. Pubmed reference: 26104009. DOI: 10.1093/molbev/msv140. | |
2013 | Shapiro, M.D., Kronenberg, Z., Li, C., Domyan, E.T., Pan, H., Campbell, M., Tan, H., Huff, C.D., Hu, H., Vickrey, A.I., Nielsen, S.C., Stringham, S.A., Hu, H., Willerslev, E., Gilbert, M.T., Yandell, M., Zhang, G., Wang, J. : |
Genomic diversity and evolution of the head crest in the rock pigeon. Science 339:1063-7, 2013. Pubmed reference: 23371554. DOI: 10.1126/science.1230422. |
Edit History
- Created by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 05 Aug 2016
- Changed by Frank Nicholas on 02 Apr 2020
- Changed by Imke Tammen2 on 25 Aug 2024