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Aberrant DNA methylation suppresses expression of estrogen receptor 1 (ESR1) in ovarian endometrioma
Ryo Maekawa1, Yumiko Mihara2, Shun Sato2
1Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine, Minamikogushi 1-1-1, Ube, 755-8505, Japan. rmaekawa@yamaguchi-u.ac.jp.
Background:
In ovarian endometriomas (OE), the expression statuses of various steroid hormone receptors are altered compared with their expression statuses in eutopic endometrium (EE). For example, in OE, the expressions of estrogen receptor 1 (ESR1), which encodes ERα, and progesterone receptor (PGR) are downregulated, while the expression of ESR2, which encodes ERβ, is upregulated. The causes of these changes are unclear. DNA methylation of a specific region of a gene can result in tissue-specific gene expression. Such regions are called tissue-dependent and differentially methylated regions (T-DMRs). We previously reported that the tissue-specific expression of ESR1 is regulated by DNA methylation of a T-DMR in normal tissues. In the present study, we examined whether aberrant DNA methylation of the T-DMR is associated with the altered expressions of ESR1, ESR2 and PGR in OE.
Results:
Gene expression levels of ESR1, ESR2 and PGR were measured by quantitative RT-PCR. The expression levels of ESR1 and PGR were significantly lower and the expression level of ESR2 was significantly higher in OE than in EE. DNA methylation statuses were examined with an Infinium HumanMethylation450K BeadChip and sodium bisulfite sequencing. DNA methylation at the T-DMRs of ESR1 were significantly higher in OE than in EE, but no significant differences were observed in the DNA methylation statuses of ESR2 and PGR.
Conclusions:
Aberrant DNA methylation of the T-DMR was associated with the impaired expression of ESR1, but not the altered expressions of ESR2 and PGR, in OE.
Insights
Aberrant DNA methylation of a specific region is linked to altered estrogen receptor 1 (ESR1) expression in ovarian endometriomas (OE). This DNA methylation pattern did not affect estrogen receptor 2 (ESR2) or progesterone receptor (PGR) expression in OE.
Area of Science:
- Reproductive biology
- Epigenetics
- Gynecology
Background:
- Ovarian endometriomas (OE) exhibit altered steroid hormone receptor expression compared to eutopic endometrium (EE).
- Estrogen receptor 1 (ESR1) and progesterone receptor (PGR) are downregulated, while estrogen receptor 2 (ESR2) is upregulated in OE.
- The underlying mechanisms for these expression changes remain unclear.
Purpose of the Study:
- To investigate the association between aberrant DNA methylation of tissue-dependent and differentially methylated regions (T-DMRs) and altered expression of ESR1, ESR2, and PGR in OE.
- To determine if DNA methylation at specific T-DMRs contributes to the observed changes in hormone receptor expression in OE.
Main Methods:
- Quantitative RT-PCR was used to measure gene expression levels of ESR1, ESR2, and PGR.
- DNA methylation statuses were analyzed using the Infinium HumanMethylation450K BeadChip and sodium bisulfite sequencing.
- Comparison of gene expression and DNA methylation between OE and EE tissues.
Main Results:
- OE showed significantly lower ESR1 and PGR expression and significantly higher ESR2 expression compared to EE.
- DNA methylation at the T-DMRs of ESR1 was significantly higher in OE than in EE.
- No significant differences in DNA methylation status were found for ESR2 and PGR T-DMRs between OE and EE.
Conclusions:
- Aberrant DNA methylation of the ESR1 T-DMR is associated with impaired ESR1 expression in OE.
- DNA methylation at the examined T-DMRs does not appear to be the cause of altered ESR2 and PGR expression in OE.
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