Epigenetic Modifications

Epigenetic modifications are chemical or structural changes that regulate gene activity without altering the underlying DNA sequence, making them essential to development, cellular identity, and disease biology. Mechanisms include DNA methylation, histone modification, chromatin remodeling, and regulation by noncoding RNAs, which can increase or decrease access to genes and influence transcription. These changes help cells with identical genomes adopt distinct functions and can respond to environmental or cellular signals. Studying epigenetic modifications supports research into development, cancer, inherited disorders, and aging, while informing biomarker discovery and strategies for modifying abnormal gene regulation.

Epigenetic Modifications - Related Videos

Education

JoVE Science Education - Advanced Biology

An Overview of Epigenetics

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2023

Since the early days of genetics research, scientists have noted certain heritable phenotypic differences that are not due to differences in the nucleotide sequence of DNA. Current evidence suggests that these “epigenetic” phenomena might be controlled by a number of mechanisms, including the modification of DNA cytosine bases with methyl groups, the addition of various chemical groups to histone proteins, and the recruitment of protein factors to specific DNA sites via interactions with...

Epigenetic Regulation

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2019

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer. In most mammals, females have two X chromosomes (XX) while males have an X and a Y chromosome (XY). The X chromosome contains significantly more genes than the Y chromosome. Therefore, to prevent an excess of X chromosome-linked gene expression in females, one of the two X chromosomes is randomly silenced during early development.

Research

JoVE Journal - Biology
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DNA Methylation: Bisulphite Modification and Analysis

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Cited by 75 •

2011

The gold standard for DNA methylation analysis is genomic sequencing of bisulphite converted DNA. This method takes advantage of the increased sensitivity of cytosine compared with 5-methylcytosine (5-MeC) to bisulphite deamination under acidic conditions. Unmethylated cytosines can be distinguished from methylated cytosines after PCR amplification of the target genomic DNA.

Extraction of Histones from Clinical Specimens for Epigenetic Profiling by Mass Spectrometry

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2025

This protocol enables efficient histone extraction from various clinical samples for subsequent post-translational modification analysis by LC-MS/MS. By facilitating robust detection of key histone modifications, it serves as a valuable tool for comprehensive epigenetic profiling in large clinical cohorts.

A Two-Step Strategy that Combines Epigenetic Modification and Biomechanical Cues to Generate Mammalian Pluripotent Cells

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Cited by 6 •

2020

We here present a method that combines the use of chemical epigenetic erasing with mechanosensing-related cues to efficiently generate mammalian pluripotent cells, without the need of gene transfection or retroviral vectors. This strategy is, therefore, promising for translational medicine and represents a notable advancement in stem cell organoid technology.

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