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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...

Epigenetic Regulation

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

Epigenetic Regulation

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

Inheritance of Chromatin Structures

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Chromatin Position Affects Gene Expression

Chromatin Position Affects Gene Expression

Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...

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Related Experiment Video

Updated: Jun 16, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Epigenetic changes and non-coding expanded repeats.

Masayuki Nakamori¹, Charles Thornton

¹Department of Neurology, University of Rochester Medical Center, Rochester, New York 14642, USA.

Neurobiology of Disease

|February 23, 2010

Summary

Unstable repeat expansions in non-coding DNA cause neurogenetic disorders through epigenetic changes or toxic RNA. These mechanisms lead to neurodevelopmental and neurodegenerative conditions, with potential for therapeutic intervention.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Neurogenetic disorders frequently arise from unstable tandem repeat expansions.
Causal mutations are often situated in non-protein-coding gene regions.
Pathological repeat expansions can induce epigenetic alterations, leading to gene silencing.

Purpose of the Study:

To review mechanisms of gene dysregulation caused by non-coding repeat expansions.
To explore the role of epigenetic changes and RNA toxicity in neurogenetic disorders.
To discuss potential therapeutic interventions for these conditions.

Main Methods:

Review of existing literature on non-coding repeat expansions and associated disorders.
Analysis of molecular mechanisms including epigenetic repression and RNA gain-of-function.
Synthesis of evidence regarding therapeutic strategies.

Main Results:

Expanded repeats in non-coding regions can cause heterochromatin-mediated gene repression.
Alternatively, expanded repeats can lead to toxic gain-of-function via mutant RNA.
These mechanisms underlie diverse neurodevelopmental and neurodegenerative abnormalities.

Conclusions:

Non-coding repeat expansions are a significant cause of neurogenetic disorders.
Gene silencing and RNA toxicity are key pathogenic mechanisms.
Emerging evidence suggests these disorders may be treatable.