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Epigenetic Regulation01:37

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Related Experiment Video

Updated: Apr 19, 2026

Immunohistochemical Detection of 5-Methylcytosine and 5-Hydroxymethylcytosine in Developing and Postmitotic Mouse Retina
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5-Hydroxymethylcytosine and disease.

Jingyu Wang1, Jinlong Tang2, Maode Lai3

  • 1Department of Pathology, School of Medicine, Zhejiang University, Zhejiang, PR China; Department of Pathology, The First Hospital of Jiaxing, Zhejiang, PR China.

Mutation Research. Reviews in Mutation Research
|December 6, 2014
PubMed
Summary

5-hydroxymethylcytosine (5hmC) is an epigenetic marker involved in gene regulation. This review explores 5hmC

Keywords:
5hmCDemethylationDiseaseTDGTETs

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Area of Science:

  • Epigenetics and molecular biology.
  • Genomics and DNA modification.
  • Human disease mechanisms.

Background:

  • Epigenetics involves heritable changes in gene expression without altering DNA sequence.
  • 5-hydroxymethylcytosine (5hmC) is a recently identified epigenetic marker, also known as the sixth DNA base.
  • 5hmC is generated from 5-methylcytosine (5mC) by ten-eleven translocation (TET) enzymes in mammals.

Purpose of the Study:

  • To review recent advancements in understanding 5-hydroxymethylcytosine (5hmC).
  • To explore the role of 5hmC in gene expression regulation.
  • To discuss the implications of 5hmC in human diseases, including cancer and Rett syndrome.

Main Methods:

  • Literature review of recent studies on 5hmC.
  • Analysis of data on 5hmC generation, distribution, and demethylation.
  • Examination of the functional roles and disease associations of 5hmC.

Main Results:

  • 5hmC functions as both an intermediate in DNA demethylation and an independent epigenetic regulator.
  • Accumulated data highlight 5hmC's significant role in gene expression.
  • Emerging evidence links 5hmC alterations to human diseases.

Conclusions:

  • 5hmC is a crucial epigenetic marker with diverse biological functions.
  • Further research into 5hmC is essential for understanding and treating diseases like cancer and Rett syndrome.
  • 5hmC represents a promising area for epigenetic research and therapeutic development.