DNA methylation and cancer development: molecular mechanism
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Updated: May 13, 2026

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
Haleh Akhavan-Niaki1, Ali Akbar Samadani
1Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
Abstract:
DNA methylation is a significant regulator of gene expression, and its role in carcinogenesis recently has been a subject of remarkable interest. The aim of this review is to analyze the mechanism and cell regulatory effects of both hypo- and hyper-DNA methylation on cancer. In this review, we report new developments and their implications regarding the effects of DNA methylation on cancer development. Indeed, alteration of the pattern of DNA methylation has been a constant finding in cancer cells of the same type and differences in the pattern of DNA methylation not only occur in a variety of tumor types, but also in developmental processes Furthermore, the pattern of histone modification appears to be a predicator of the risk of recurrence of human cancers. It is well known that hypermethylation represses transcription of the promoter sections of tumor-suppressor genes leading to gene silencing. However, hypomethylation also has been identified as a cause of oncogenesis. Furthermore, experiments concerning the mechanism of methylation and its control have led to the discovery of many regulatory enzymes and proteins. This review reports on methods developed for the detection of 5-hydroxymethylcytosine methylation at the 5-methylcytosine of protein domains in the CpG context compared to non-methylated DNA, histone modification, and microRNA change.
Insights
DNA methylation, a key regulator of gene expression, plays a dual role in cancer development. Both hypomethylation and hypermethylation significantly impact oncogenesis and tumor progression.
Area of Science:
- Epigenetics and Molecular Oncology
- Cancer Biology
- Gene Regulation
Background:
- DNA methylation is a critical epigenetic mechanism controlling gene expression.
- Alterations in DNA methylation patterns are hallmarks of cancer cells.
- Epigenetic modifications, including DNA methylation and histone modification, are increasingly recognized for their role in cancer development and recurrence.
Purpose of the Study:
- To review the mechanisms and cellular regulatory effects of DNA hypomethylation and hypermethylation in cancer.
- To highlight new developments and implications of DNA methylation alterations in cancer.
- To discuss the interplay between DNA methylation, histone modification, and microRNA in cancer.
Main Methods:
- Review of current literature on DNA methylation in carcinogenesis.
- Analysis of mechanisms underlying hypo- and hypermethylation.
- Examination of methods for detecting DNA methylation and related epigenetic changes.
Main Results:
- Hypermethylation of tumor-suppressor genes leads to transcriptional repression and gene silencing.
- Hypomethylation is also implicated as a driver of oncogenesis.
- Changes in DNA methylation patterns are observed across various tumor types and developmental stages.
- Histone modification patterns can predict cancer recurrence risk.
Conclusions:
- DNA methylation is a significant, multifaceted factor in cancer development.
- Understanding DNA methylation dynamics is crucial for cancer research and therapeutic strategies.
- Further research into detection methods for DNA methylation and associated epigenetic markers is warranted.
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