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Our understanding of the genetic basis of pigmentary phenotypes — including skin, hair, and eye color — has grown tremendously, thanks to a recent wave of molecular studies. Researchers have made comparative analyses of skin color in model organisms and humans and performed association studies in specific loci and in the whole genome. Several genome-wide association studies have now identified single nucleotide polymorphism (SNP) markers in some genes with known pigmentation associations (TYR, TYRP1, OCA2, SLC45A2, SLC24A5, MC1R, ASIP, KITLG) and in some previously unknown candidates (SLC24A4, IRF4, TPCN2).
Researchers1 found that the influence of a few SNPs at TYR, SLC45A2, and SLC24A5 accounts for most differenc…