GATA6 expression promoted by an active enhancer may become a molecular marker in endometriosis lesions

Masao Izawa, Fuminori Taniguchi, Tasuku Harada
American journal of reproductive immunology (New York, N.Y. : 1989) · 2018 · vol. 81(2) , pp. e13078 · doi:10.1111/aji.13078 · PMID:30589192 · W2907902643
article OA: closed CC0 ⤵ 13 in-corpus citations
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This study identified a hypomethylated GATA6 gene body enhancer in endometriotic cells, leading to GATA6 overexpression, suggesting GATA6 can serve as a molecular marker for endometriosis lesions.

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Abstract

PROBLEM: Genome-wide profiling of DNA methylation in endometriotic cells has shown a distinct facet of epigenetic backgrounds; however, specific DNA methylation sites responsible for aberrant gene expression in endometriosis were unknown. Are there specific endometriosis-associated DNA methylations that can be used as molecular markers in endometriosis lesions? METHOD OF STUDY: This study used endometriotic tissues from the chocolate cyst lining of the ovaries of patients with endometriosis, and endometrial tissues from disease-free patients. For analysis, stromal cells were collected from endometrial and endometriotic tissues. Using endometrial cells as control, differentially methylated cytosine-phosphate-guanine (CpG) characteristic in endometriotic cells was extracted. Among these CpGs, we focused on a stretch of hypomethylated CpGs within GATA6 gene and examined the potential role as enhancer in endometriotic cells and tissues. RESULT(S): We identified a stretch of hypomethylated CpGs within the GATA6 gene body in endometriotic cells. Because GATA6 mRNA was highly expressed in endometriotic cells but not in endometrial cells, we then hypothesized that the hypomethylated sequence may function as an enhancer in GATA6 gene expression. Chromatin immunoprecipitation analysis predicted the presence of active enhancer within the gene body sequence in endometriotic cells. Immunohistochemistry showed a positive staining of GATA6 in ovarian chocolate cysts, while in endometrial tissues and in some peritoneal tissues with endometriosis, GATA6 staining was at a marginal level. CONCLUSION: This is the first implication showing a link between an aberrant DNA methylation of cis element and gene expression in endometriosis. GATA6 expression may become a molecular marker to diagnose endometriosis lesions.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometrium GATA6 Transcription Factor Stromal Cells Adolescent Adult Child CpG Islands CpG Islands DNA Methylation Endometriosis Endometrium Enhancer Elements, Genetic Enhancer Elements, Genetic Epigenesis, Genetic Female GATA6 Transcription Factor GATA6 Transcription Factor Genetic Markers Humans

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