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Epigenetic Regulation

Epigenetic Regulation

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.
X-chromosome...

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Related Experiment Video

Updated: Sep 16, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Published on: May 6, 2022

Scalable screening of ternary-code DNA methylation dynamics associated with human traits.

David C Goldberg¹, Cameron Cloud¹, Sol Moe Lee¹

¹Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

|July 4, 2025

Summary

Epigenome-wide association studies (EWASs) now include DNA modifications like 5-hydroxymethylcytosine (5hmC) using the new methylation screening array (MSA). This reveals 5hmC’s role in human traits, epigenetic clocks, and aging dynamics.

Keywords:

5-hydroxymethylation DNA methylation Infinium array epigenetic clock epigenetics epigenome-wide association study

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Last Updated: Sep 16, 2025

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Area of Science:

Epigenetics and Genomics
Human Trait Association
Biomarker Discovery

Background:

Epigenome-wide association studies (EWASs) are crucial for understanding epigenetics in complex human traits.
Current methods may not fully capture the complexity of DNA modifications.
Integrating diverse methylation signatures is needed for comprehensive analysis.

Purpose of the Study:

To introduce a novel tool, the methylation screening array (MSA), for scalable screening of DNA cytosine modifications.
To investigate the role of 5-hydroxymethylcytosine (5hmC) alongside 5-methylcytosine (5mC) in human traits and epigenetic clocks.
To explore cell-type-specific epigenetic regulation and aging dynamics.

Main Methods:

Development and application of the methylation screening array (MSA) for profiling DNA methylations (5mC, 5hmC, unmodified cytosine).
Integration of EWASs with cell-type-linked methylation signatures.
Comparative analysis of EWAS and genome-wide association study (GWAS) hits within specific cell-type contexts.

Main Results:

The MSA enables quantitative screening of trait-associated DNA modifications in large populations.
5hmC plays a significant role in mediating human trait associations and epigenetic clocks, complementing 5mC.
Identified shared and tissue-specific 5hmC aging dynamics and methylation changes.

Conclusions:

The MSA is a powerful tool for advancing EWAS research and understanding epigenetic regulation.
5hmC is a critical epigenetic mark with previously unappreciated roles in human health and disease.
Findings provide a comprehensive landscape of cytosine modifications in human tissues, impacting aging and disease research.