OMIA 002190-8932 : Feather colour, recessive red in Columba livia

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613266 , 611584 , 609136

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".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SOX10 SRY (sex determining region Y)-box 10 Columba livia - no genomic information (-..-) SOX10 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
Recessive red SOX10 e^1 deletion, gross (>20) Domyan et al. (2014) reported a 7.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
Recessive red SOX10 e^2 deletion, gross (>20) Domyan et al. (2014) reported a 2.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169

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.
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.

Edit History


  • Created by Frank Nicholas on 06 Apr 2019
  • Changed by Frank Nicholas on 06 Apr 2019