OMIA 000240-8932 : Crest in Columba livia

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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".

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 - no genomic information (-..-) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Crest EPHB2 cr missense c.???C>T p.R758C 2013 23371554

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.
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