Hypomethylation and activation of syncytin-1 gene in endometriotic tissue

Curr Pharm Des. 2014;20(11):1786-95. doi: 10.2174/13816128113199990540.

Abstract

Syncytin-1 plays a critical role in the maintenance of normal pregnancy by mediating the formation of syncytiotrophoblasts through a fosugenic action. Encoded by the human endogenous retrovirus envelope gene HERV-W, syncytin-1 trophoblast-specific expression is controlled by epigenetic mechanisms. In non-placental tissues, the syncytin-1 gene is suppressed by hypermethylation in the LTR promoter region. Hypomethylated and activated syncytin-1 gene is found in placental trophoblast lineages and malignant cells. We here demonstrate that while syncytin-1 gene remains silenced in the eutopic endometrium from endometriotic patients, syncytin-1 mRNA and protein are detected in ectopic, endometriotic lesions; particularly the endometrioid glandular endothelial cells. LINE-1 COBRA assay and immunohistochemistry using the 5-MC-specific antibody did not detect any changes in global DNA methylation in the endometriotic tissues. However, results from COBRA and bisulfite sequencing indicated that the LTR region of the syncytin-1 promoter is hypomethylated in endometriotic tissues, highlighting the significance of DNA demethylation in syncytin-1 gene activation. Analysis of DNA methyltransferase 3B (DNMT3B) mRNA levels revealed that DNMT3B3, an isoform carrying methyltransferase activity, is downregulated; whereas DNMT3B7, the isoform without enzymatic activity, is upregulated in the endometriotic tissues, pointing to positive and negative regulatory functions, respectively, of these isoforms on syncytin-1 methylation. These results have provided the first evidence supporting the involvement of epigenetic mechanisms for syncytin-1 upregulation in endometriotic tissues. Considering recent findings on the nonfusogenic activity of syncytin-1, its expression in endometriotic tissues suggests that this multifunctional protein may be implicated in the pathogenesis and/or progression of endometriosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methylation*
  • DNA Methyltransferase 3B
  • Down-Regulation
  • Endometriosis / genetics*
  • Endometriosis / pathology
  • Endometrium / pathology*
  • Endothelial Cells / metabolism
  • Epigenesis, Genetic
  • Female
  • Gene Products, env / genetics*
  • Gene Silencing
  • Humans
  • Pregnancy Proteins / genetics*
  • Promoter Regions, Genetic
  • RNA, Messenger / metabolism
  • Up-Regulation
  • Young Adult

Substances

  • Gene Products, env
  • Pregnancy Proteins
  • RNA, Messenger
  • syncytin
  • DNA (Cytosine-5-)-Methyltransferases