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. Author manuscript; available in PMC: 2009 Nov 1.
Published in final edited form as: Nat Genet. 2009 Apr 6;41(5):625–629. doi: 10.1038/ng.346

Figure 3.

Figure 3

Active and suppressed haplotypes at hot-spot S2. (a) Location of SNPs in the region analysed for sperm crossovers. (b) Minimum-recombination phylogeny of haplotypes in the LD block spanning hot-spot S2, with numbers of base substitutions accumulated on each branch shown at left. Upstream markers spanning hot-spot S1 showed substantially free association with each of the common haplotypes and were excluded. Each SNP is shown as an empty box (ancestral state) or filled box (derived state). Haplotype names are in red for those active for crossover initiation, and in blue for suppressed haplotypes as established by sperm analysis. The numbers of haplotypes seen in the panel of 94 semen donors are given at right. The only SNP showing homoplasy within the phylogeny is marked with an asterisk. The hot-spot–activating substitution S9.1A->G is shown in red, with an additional SNP acquired on the S9.1G lineage marked in pink. The time to the most recent common ancestor of all haplotypes was estimated at 1.2 Myr (95% CI 0.7–2.0 Myr). (c) Inferred recombinant haplotypes. Crossover intervals are marked by lines and the likely parental haplotypes indicated at left. The active haplotype L has exchanged haplotypes distal to the hot spot, excluding a possible cis-determinant of hot-spot activity in absolute LD with S9.1G but mapping distal to the genotyped region. Haplotype M is derived from the active haplotype K but has eliminated the S9.1G mutation; this haplotype could not be tested for crossover activity due to lack of heterozygous markers in the carrier man, but will presumably be inactive.