Association between methylation deserts and human-specific structural rearrangements.

<p>(A) Locations of human-specific structural rearrangements (black), 100 Kbp windows with methylation index value 0 (violet), 100 Kbp windows with lowest 1% sperm methylation at 15× coverage (green) and 2.5× coverage (red) for three representative chromosomes. (See <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002692#pgen.1002692.s018" target="_blank">Figure S18</a> for a whole genome view). (B) Cumulative sperm methylation distribution and the Kolmogorov-Smirnov statistics for 100 Kbp windows containing rearrangements (solid line) and the rest of the windows (dashed line) at 15× coverage (red) and at 2.5× coverage (red). (C) Simulation test of extent of hypomethylation in the regions flanking human-specific structural rearrangements. Distribution of methylation levels for 10 Kbp regions sampled at increasing distances (from 10 Kbp to 100 Kbp) from the 522 human specific structural rearrangements is compared to the distribution of methylation levels of randomly picked segments with matching sizes within the same chromosome (100 random samplings for each rearrangement). The same analysis is performed for methylomes at 15× coverage (green) and 2.5× coverage (red). <i>D_max</i> and significance <i>p</i>-value were determined using the Kolmogorov-Smirnov test.