ESR1 expression was tissue-specific, being high in the endometrium and mammary gland and low/nil in the placenta and skin.A long-standing question was how this tissue-specific expression of ESR1 was regulated. In other genes, DNA methylation of a region called the T-DMR (tissue-dependent and differentially methylated region) has been associated with tissue-specific gene expression.We recently found that human ESR1 has a T-DMR and DNA methylation of the T-DMR, but not the promoter region, regulates its tissue-specific expression. Furthermore, we revealed that EGR1 is a possible transcription factor to bind the T-DMR and upregulate ESR1 expression under DNA hypomethylation of the T-DMR.
estrogen receptor 1 (ESR1)
tissue-specific expression
DNA methylation
tissue-dependent and differentially methylated region
breast cancer