Fig. 5: DOT1L regulates XY gene expression via H3K79me2.
From: Chromatin environment-dependent effects of DOT1L on gene expression in male germ cells

a Chromosome localization of deregulated genes in SCII and RS. Blue: downregulated genes (DR), red: upregulated genes (UR), the green dot indicates the centromere, and the gray dot, indicates the telomere. b Comparison of gene expression levels between Dot1l-KO and CTL male germ cells. Boxplots showing gene expression log2-fold change of Dot1l-KO relative to CTL (all genes with a p-value < 0.05). Box: 25th/75th percentiles. Bar in the box: median. Whiskers: 1.5 times the interquartile range from the 25th/75th percentiles. Dashed lines: 1.5-fold change. Stars indicate p-values calculated using the Wilcoxon test adjusted with Benjamini–Hochberg correction (*p < 0.05, **p < 0.005, ****p < 0.00005, ns: not significant). c X-chromosome localization of deregulated genes in RS (upregulated are shown in red and downregulated, in blue). Different genomic features are displayed: A/B compartments, H3K79me2 peaks, cohesin peaks (REC8 in yellow and RAD21L in green), and transcription start sites (TSS). d Number of H3K79me2 peaks, normalized to the chromosome length, per chromosome in GSC, SCI, and RS. Bars representing the results for sex chromosomes are colored in red. e Chromosome location of downregulated genes in Dot1l-KO vs. CTL RS indicated in % (circle). The squares indicate the values obtained for downregulated genes, which are marked by H3K79me2 at their gene body, at the TSS, or at the closest distal regulatory region. f Quantification of H3K79me2 level at the gene body of downregulated XY genes by ChIP-qPCR in RS (n = 3 replicates for CTL and Dot1l-KO samples). Mb and H19 are two not deregulated autosomal genes used as controls. Results are presented as % enrichment values (IP/input recovery %), with the mean indicated by a dash. An asterisk indicates a significant difference as determined by multiple t-tests corrected using Holm-Sidak method (p < 0.05).