Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 156845 (gene)

Single-gene trait/disorder: yes

Disease-related: no

Key variant known: no

Cross-species summary: See also OMIA:002572: Beak colour, generic

Markers: Pan et al. (2023) analysed "genomic selection signatures to identify a candidate site associated with beak color. [The authors] ... used black-billed (Yiyang I meat duck synthetic line H1, H2, H3&HF) and yellow-billed ducks (Cherry Valley ducks and white feather Putian black duck). Quantitative real-time PCR and genotyping approaches were used to verify the function of the candidate site." MITF was selected as a candidate gene for further analysis and "expression of MITF in the black duck beak tissue was significantly higher (p < 0.01) than that in the yellow beak group ... ." The authors concluded that the intronic MITF variant "ASM874695v1:10:g.17814522T > A could be selected as a marker site for the duck beak color phenotype."
Hua et al. (2025) identified a "1 bp insertion (InDel-4, at the position of 17829988 on chromosome 10 of ASM874695v1) in intron regions of MITF" to be highly associated with yellow beak colour.

Associated gene: