Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613266 (trait) , 611584 (trait) , 609136 (trait) , 602229 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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: