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Fig. 4 | Clinical Epigenetics

Fig. 4

From: High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting

Fig. 4

Germ cells in cultures from Klinefelter (KS) men detected at protein and DNA methylation levels. a Representative plots of DNA methylation patterns for the three germ cell marker genes in a somatic-cell attached fraction from a KS patient without germ cells (AT-KS(−)), germ cell-containing supernatant fraction from a KS patient with germ cells (SN-KS(+)), and sperm as a germ cell control. Each column represents a CpG position while each line corresponds to an individual sequencing read. Methylated positions are denoted in red and unmethylated in blue. b Mean DNA methylation values of each germ cell marker gene in SN-KS+ (n = 3) were compared to a pure testicular somatic control with Sertoli cell-only phenotype (SCO, n = 3) and sperm as a pure germ cell control (n = 5). The presence of germ cells in the KS sample can be observed as a shift downwards in the DNA methylation levels compared to SCO. Statistically significant differences in average DNA methylation levels are denoted by letters: a—different from SCO, b—different from SN-KS. p values are denoted by the number of letters (e.g. a—p < 0.05, aa—p < 0.005, aaa—p < 0.001). c Histograms showing the read distribution of VASA/DDX4 DNA methylation in the three SN-KS+ samples. Based on the proportion of unmethylated reads, it is possible to estimate the amount of germ cells contained within the analysed sample (displayed in each individual panel). d–g Micrographs showing immunofluorescence staining for VASA/DDX4 (magenta), α-smooth muscle actin (αSMA, green), and DAPI (blue) of testicular cells in culture. As a comparison, a culture from a man with full spermatogenesis f is shown. The negative control g showed no immunological staining. Scale bar = 50 μm

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