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. 2014 Mar 6;10(3):e1004158. doi: 10.1371/journal.pgen.1004158

Figure 12. A putative epigenetic switch in endometriosis.

Figure 12

In EIUM the GATA2 gene is characterized by a lack of DNA methylation. In contrast, OSIS cells have hypermethyated CpGs throughout a CGI and its proximal shores in the GATA2 promoter, as well as in shore regions throughout the body of the gene. Multiple regions of GATA6 are fully methylated in EIUM, while OSIS cells show a lack of methylation at CpGs across a set of three CGIs and their shores, all located within the body of the gene. We propose this pattern permits GATA2 expression in healthy cells, which coordinates the upregulation of many genes during IVD, and may also maintain the expression of ALDH1A2, a key enzyme in retinoid metabolism. The altered methylation in diseased cells allows GATA6 to be expressed, possibly at the expense of GATA2. GATA6 regulates the expression of multiple gene sets, including those involved in steroid metabolism, the nuclear steroid hormone receptors, and the other GATA family members. Importantly, GATA6 drives EIUM away from the normal endometrial phenotype that is capable of spontaneous decidualization, and into a pattern of gene expression similar to endometriosis.