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OMIA 002189-8932 : Wing pattern pigmentation in Columba livia

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 310600 (trait) , 305390 (trait)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Inheritance: Vickrey et al. (2018): "major wing shield pigmentation phenotypes are determined by an allelic series at a single locus (C, for ‘checker’ pattern) that produces four phenotypes: T-check (CT allele, also called T-pattern), checker (C), bar (+), and barless (c), in decreasing order of dominance and melanism"

Mapping: Vickrey et al. (2018) mapped the wing-pattern locus to "a single ~103 kb significantly differentiated region on Scaffold 68 that was shared by all checker and T-check birds (position 1,702,691–1,805,600 of the Cliv_1.0 pigeon genome assembly".

Molecular basis: Vickrey et al. (2018) "resequenced genomes of 9 barless pigeons and found that all were homozygous for a nonsynonymous protein-coding change at the start codon of NDP that was perfectly associated with the barless wing pattern phenotype . . . We genotyped an additional 14 barless birds and found that all were homozygous for the same start-codon mutation. The barless mutation is predicted to truncate the amino terminus of the NDP protein by 11 amino acids, thereby disrupting the 24-amino acid signal peptide sequence"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NDP Norrie disease (pseudoglioma) Columba livia - no genomic information (-..-) NDP 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1064 Barless NDP c start-lost Naturally occurring variant Cliv_1.0 Vickrey et al. (2018): "a nonsynonymous protein-coding change at the start codon of NDP". 2018 30014848
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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.
2018 Vickrey, A.I., Bruders, R., Kronenberg, Z., Mackey, E., Bohlender, R.J., Maclary, E.T., Maynez, R., Osborne, E.J., Johnson, K.P., Huff, C.D., Yandell, M., Shapiro, M.D. :
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon. Elife 7:e34803, 2018. Pubmed reference: 30014848. DOI: 10.7554/eLife.34803.
1922 Van Hoosen Jones, S. :
Studies on inheritance in pigeons. IV. Checks and bars and other modifications of black. Genetics 7:466-507, 1922. Pubmed reference: 17245989.

Edit History


  • Created by Frank Nicholas on 01 Apr 2019
  • Changed by Frank Nicholas on 01 Apr 2019
  • Changed by Frank Nicholas on 27 Mar 2020