A SNP variant located in the cis-regulatory region of the ABCG2 gene is associated with mallard egg color.

Avian egg coloration is shaped by natural selection, but its genetic basis remains unclear. Here, we used genome-wide association (GWA) analysis and identity by descent (IBD) to finely map green egg color to a 179 kb region of Chr4 based on the resequencing of 352 ducks (Anas platyrhynchos) from a segregating population resulting from the mating of Pekin ducks (white-shelled eggs) and mallards (green-shelled eggs). We further narrowed the candidate region to a 30 kb interval by comparing genome divergence in seven indigenous duck populations. Among the genes located in the finely mapped region, only one transcript of the ABCG2 gene (XM_013093252.2) exhibited higher uterine expression in green-shelled individuals than in white-shelled individuals, as supported by transcriptome data from four populations. ABCG2 has been reported to encode a protein that functions as a membrane transporter for biliverdin. Sanger sequencing of the whole 30 kb candidate region (Chr4:47.41-47.44 Mb) and a plasmid reporter assay helped to identify a single-nucleotide polymorphism (Chr4: 47,418,074 G>A) located in a conserved predicted promoter region whose variation may alter ABCG2 transcription activity. We provide a useful molecular marker for duck breeding and contribute data to the research on ecological evolution based on egg color patterns among birds.
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