Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 310600 (trait) , 305390 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Inheritance: Vickrey et al. (2018): "major wing shield pigmentation phenotypes are determined by an allelic series at a single locus (C, for ‘checker’ pattern) that produces four phenotypes: T-check (CT allele, also called T-pattern), checker (C), bar (+), and barless (c), in decreasing order of dominance and melanism"

Mapping: Vickrey et al. (2018) mapped the wing-pattern locus to "a single ~103 kb significantly differentiated region on Scaffold 68 that was shared by all checker and T-check birds (position 1,702,691–1,805,600 of the Cliv_1.0 pigeon genome assembly".

Molecular basis: Vickrey et al. (2018) "resequenced genomes of 9 barless pigeons and found that all were homozygous for a nonsynonymous protein-coding change at the start codon of NDP that was perfectly associated with the barless wing pattern phenotype . . . We genotyped an additional 14 barless birds and found that all were homozygous for the same start-codon mutation. The barless mutation is predicted to truncate the amino terminus of the NDP protein by 11 amino acids, thereby disrupting the 24-amino acid signal peptide sequence"

Associated gene: