OMIA:002190-8932 : Feather colour, recessive red in Columba livia (rock pigeon)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2014
Species-specific description: This traits is the result of recessive alleles at the classic E colour locus of pigeons.
Molecular basis: Domyan et al. (2014) reported two large deletions as likely causal variants for recessive red in pigeons, a 7.5kb deletion (allele e^1) and a 2.5kb deletion (allele e^2) that each "span a conserved enhancer element that drives Sox10 expression in melanocytes".
Prevalence: Domyan et al. (2014): "To test for broader association between the pigeon Sox10 enhancer deletion and recessive red, we genotyped 41 recessive red pigeons from 19 breeds and 103 wild-type pigeons from 45 breeds, and found that 21 recessive red birds (but no wild-type birds) were homozygous for the deletion harbored by the reference genome (e^1 allele, . . .). An additional 17 recessive red birds (but no wild-type birds) were homozygous for a second, 2.5-kb deletion (e^2) that partially overlaps e^1, and the remaining 3 birds were heterozygous e^1e^2".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SOX10||SRY (sex determining region Y)-box 10||Columba livia||NW_004974151.1 (560765..550089)||SOX10||Homologene, Ensembl , NCBI gene|
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
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|
|1065||Recessive red||SOX10||e^1||deletion, gross (>20)||Naturally occurring variant||Domyan et al. (2014) reported a 7.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes"||2014||24508169|
|1066||Recessive red||SOX10||e^2||deletion, gross (>20)||Naturally occurring variant||Domyan et al. (2014) reported a 2.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes"||2014||24508169|
Cite this entry
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.
|2019||Domyan, E.T., Hardy, J., Wright, T., Frazer, C., Daniels, J., Kirkpatrick, J., Kirkpatrick, J., Wakamatsu, K., Hill, J.T. :|
|SOX10 regulates multiple genes to direct eumelanin versus pheomelanin production in domestic rock pigeon. Pigment Cell Melanoma Res :, 2019. Pubmed reference: 30838786 . DOI: 10.1111/pcmr.12778.|
|2014||Domyan, E.T., Guernsey, M.W., Kronenberg, Z., Krishnan, S., Boissy, R.E., Vickrey, A.I., Rodgers, C., Cassidy, P., Leachman, S.A., Fondon, J.W., Yandell, M., Shapiro, M.D. :|
|Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. Curr Biol 24:459-64, 2014. Pubmed reference: 24508169 . DOI: 10.1016/j.cub.2014.01.020.|
|1992||Haase, E., Ito, S., Sell, A., Wakamatsu, K. :|
|Melanin concentrations in feathers from wild and domestic pigeons Journal of Heredity 83:64-67, 1992.|
|1930||Horlacher, W.R. :|
|Studies on Inheritance in Pigeons. VII. Inheritance of Red and Black Color Patterns in Pigeons. Genetics 15:312-46, 1930. Pubmed reference: 17246602 .|
- Created by Frank Nicholas on 06 Apr 2019
- Changed by Frank Nicholas on 06 Apr 2019