OMIA:000240-8932 : Crest in Columba livia (rock pigeon)

In other species: Mallard , domestic goose , chicken , budgerigar , ringneck dove

Categories: Integument (skin) phene

Mendelian 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

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 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