OMIA:002189-8932 : Wing pattern pigmentation in Columba livia (rock pigeon) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310600 (trait) , 305390 (trait)
Single-gene trait/disorder: yes
Disease-related: 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 | 1 | NC_088602.1 (98331221..98354034) | 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 | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002189-8932: 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.
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. DOI: 10.1093/genetics/7.5.466. |
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