OMIA 000357-8932 : Eye colour in Columba livia

In other species: domestic cat , water buffalo , dog , Nile tilapia

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: pearl-eye

Species-specific symbol: tr

Species-specific description: Andrade et al. (2021): "Eye color arises from the deposition of pigments in the pigmented epithelium of the iris. ... Pigeons typically have eyes exhibiting a range of yellow and red hues, which arise from the deposition of pterin pigments in the anterior surface of the iris combined with strong vascularization [Oliphant, 1987]. In addition to the wild-type eye color phenotype, mutant phenotypes such as the pearl-eye arose during domestication [Hollander and Owen, 1939]. Electron microscopy imaging shows that pigment cells in the iris of pearl-eye pigeons are structurally identical to pigment cells in wild-type birds, but lack yellow pterin pigments (the red coloration in both eye color types is due to blood vessels) [Oliphant, 1987]."

Inheritance: Andrade et al. (2021): "Classical genetic studies indicate an autosomal recessive mode of inheritance for pearl-eye [Hollander and Owen, 1939], as presumably birds carrying two copies of the mutant allele (tr/tr) are impaired in their capacity to synthesize or deposit pterins in the iris compared to wild-type birds (Tr/Tr or Tr/tr)."

Mapping: Andrade et al. (2021): "Using a combination of genome-wide association analysis and linkage information in pedigrees, we mapped variation in eye coloration in pigeons to a small genomic region of ~8.5kb. This interval contained a single gene, SLC2A11B, which has been previously implicated in skin pigmentation and chromatophore differentiation in fish."

Molecular basis: Andrade et al. (2021) "used a combination of genetic, genomic and gene expression analyses to reveal the molecular mechanism underlying eye color variation in the domestic pigeon. ... Loss of yellow pigmentation is likely caused by a point mutation [AKCR02000030.1:1,895,934G>A] that introduces a premature STOP codon and leads to lower expression of SLC2A11B through nonsense-mediated mRNA decay."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC2A11B Columba livia - no genomic information (-..-) SLC2A11B Ensembl

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
pearl-eye SLC2A11B tr nonsense (stop-gain) AKCR02000030.1 g.1895934G>A Andrade et al. (2021): "This mutation creates a premature STOP codon in exon 3 of the likely canonical SLC2A11B transcript." 2021 33621224

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.
2021 Andrade, P., Gazda, M.A., Ara├║jo, P.M., Afonso, S., Rasmussen, J.A., Marques, C.I., Lopes, R.J., Gilbert, M.T.P., Carneiro, M. :
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates. PLoS Genet 17:e1009404, 2021. Pubmed reference: 33621224. DOI: 10.1371/journal.pgen.1009404.
1987 Oliphant, L.W. :
Observations on the pigmentation of the pigeon iris. Pigment Cell Res 1:202-8, 1987. Pubmed reference: 3508278. DOI: 10.1111/j.1600-0749.1987.tb00414.x.
1939 Hollander, WF, Owen, RD :
Iris pigmentation in domestic pigeons Genetica 21:408-419, 1939.

Edit History


  • Created by Imke Tammen2 on 06 Apr 2021
  • Changed by Imke Tammen2 on 06 Apr 2021