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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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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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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
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Inheritance of Chromatin Structures03:17

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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...
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The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
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The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
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Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Losing DNA methylation at repetitive elements and breaking bad.

Xena Giada Pappalardo1,2, Viviana Barra3

  • 1Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, 95125, Catania, Italy.

Epigenetics & Chromatin
|June 4, 2021
PubMed
Summary

DNA methylation is crucial for genome stability, especially for repetitive elements. Aberrant DNA methylation, particularly hypomethylation of repetitive sequences, is linked to various human diseases, suggesting therapeutic potential.

Keywords:
Alzheimer’s diseaseAutism spectrum disorderCancerDNA hypomethylationHereditary diseasesICF syndromeLINE-1Neuropsychiatric disordersRepetitive DNASatellites

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Area of Science:

  • Epigenetics
  • Genomics
  • Molecular Biology

Background:

  • DNA methylation is a key epigenetic mark regulating gene expression and chromatin structure.
  • It plays a vital role in maintaining genome stability, including chromosome stability.
  • Dysregulation of DNA methylation patterns can be detrimental to cellular health.

Purpose of the Study:

  • To investigate the role of DNA methylation in repetitive elements.
  • To explore the association between repetitive element hypomethylation and human pathologies.
  • To assess the potential of targeting DNA methylation for therapeutic interventions.

Main Methods:

  • Analysis of DNA methylation patterns in repetitive sequences.
  • Correlation studies between methylation status and gene expression.
  • Investigation of repetitive element involvement in disease etiology.

Main Results:

  • Repetitive elements, constituting a third of the human genome, are typically methylated to ensure a repressed state.
  • Hypomethylation of repetitive elements (e.g., satellites, LINEs, Alus) is frequently observed in human diseases like cancer and psychiatric disorders.
  • Repetitive sequence hypomethylation correlates with relaxed chromatin and aberrant transcription.

Conclusions:

  • The methylation status of repetitive elements is implicated in maintaining human health.
  • Aberrant hypomethylation of repetitive sequences is recurrent across diverse human diseases.
  • Targeting DNA methylation of repetitive elements presents a promising therapeutic avenue.