Figure 1.
Identification of recombination events.
Genotypes at 10 consecutive SNPs for two parents and their four children in this pedigree are provided. Informative makers are marked in red and blue for the mother and father, respectively. Recombination events are shown by color switches (for example from dark to light red), or, if regions are large, they are shown in gray.
Figure 2.
Distribution of recombination phenotypes.
Histograms showing the distributions of maternal (red) and paternal (blue) recombinations in the AGRE (A) and FHS (B) samples.
Figure 3.
Recombination jungles across the human genome.
The curves in each graph represent the intensity of recombination activity across the chromosome. Regions with the most recombination activity (2 standard deviations above the mean) are shaded in gray and are considered “recombination jungles.” Recombination events for females (top) and males (bottom) are shown for the AGRE (pink and light blue) and FHS (red and dark blue) samples. Chromosome ideograms show centromeres in red and patterns of Giemsa staining in different shades of grey.
Figure 4.
Results of genome-wide association studies of female and male recombination phenotypes.
Results of analysis of the AGRE samples for females (A) and males (C) are shown. Combined P-values for the significant loci are plotted in green. Quantile–Quantile plots with observed P-values plotted as a function of expected P-values for female (B) and male (D) recombination phenotypes are shown.
Table 1.
Most significant results from genome-wide association analysis of recombination phenotypes.
Figure 5.
Genomic regions that include the 6 most significant loci associated with recombination phenotypes.
(A–C) Maternal association results for SNPs from analysis of the AGRE samples (red) and combined AGRE and FHS samples (green) plotted for loci on chromosomes 10p.11.23 (A), 17q21.31 (B), and 1q21.1 (C). (D–F) Paternal association results for SNPs from analysis of the AGRE samples (blue) and combined AGRE and FHS samples (green) plotted for loci on chromosomes 4p16.3 (D), 9q31.3 (E), and 7q36.1 (F). The top panel of each figure highlights the most significant SNPs in the region. The center panel of each figure shows genes in each region, and direction of transcription. The bottom panel of each figure shows LD patterns at each locus, where black corresponds to stronger LD and light gray corresponds to weaker LD as shown in (C).
Figure 6.
Expression analysis of genes associated with male recombination phenotypes.
(A) Mouse male meiotic cells were purified by FACS from testes. A typical profile is shown with the purified cell fractions circled in red. All meiotic cells were also purified and used as reference sample (circled in blue). (B) Expression patterns for genes associated with male recombination phenotypes. All genes display a strong induction from the onset of meiosis. Relative expression (ΔΔCt) was calculated using mouse β-actin as the endogenous control and the entire meiotic cells as the reference. Error bars indicate ± s.e.m. Sp: Spermatogonia, L/Z: Leptotene/Zygotene, Pa: Pachytene, Di: Diplotene, SS/RS: Secondary spermatocytes and round spermatids.