Figure 6.

Generation of haplotype C11. Recombination between chromosomes containing C10 (white) and C3 (shaded) is indicated by X. The crossover product represented by the solid line is the precursor to C11; the reciprocal recombinant represented by the dotted line is not recovered. Ancestral alleles are represented by open symbols, and derived alleles are solid black, where rs12441154, rs1834640 (c1), rs2675345 (c2), rs57108441, and rs1426654 (c11) are represented by the triangle, square, triangle, circle, and star, respectively. The B6 haplotype (here defined by 6 SNPs), just to the left of the C region, is that most commonly found in phase with the C3 allele, as indicated; B2 and B3 are most commonly in phase with C10. Subsequent mutation at rs1426654, represented by the black star, produced the predominant SLC24A5^A111T-containing haplotype, C11, which is globally associated with B6. 1000 Genomes Project data localize the crossover to the 0.9-kb interval between rs57108441 and rs78729596. Flanking regions are not shown. Note that the final product is identical under an alternate model in which mutation precedes recombination.