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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

3.0K
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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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Histone Modification02:32

Histone Modification

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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.
Acetylation
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Spreading of Chromatin Modifications02:25

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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.
Writers
The writer...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Updated: Jun 18, 2025

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Epigenome-wide DNA Methylation Association Study of CHIP Provides Insight into Perturbed Gene Regulation.

Daniel Levy1, Sara Kirmani2, Tianxiao Huan3

  • 1Framingham Heart Study, Framingham, MA, 01702, USA; Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health.

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|July 29, 2024
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Summary

Clonal hematopoiesis (CHIP) involves age-related mutations in stem cells. This study reveals epigenetic changes linked to CHIP, influencing cardiovascular disease and mortality risk.

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Area of Science:

  • Genetics
  • Epigenetics
  • Hematology

Background:

  • Aging hematopoietic stem cells (HSCs) can acquire mutations leading to clonal hematopoiesis of indeterminate potential (CHIP).
  • The mechanisms by which CHIP mutations confer a proliferative advantage and increase the risk of age-related diseases are not fully understood.
  • Understanding the epigenetic landscape of CHIP is crucial for elucidating its impact on health outcomes.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying CHIP by performing a large-scale epigenome-wide association study (EWAS).
  • To identify specific epigenetic alterations associated with CHIP and its subtypes (DNMT3A, TET2, ASXL1).
  • To explore the relationship between CHIP-associated epigenetic changes and cardiovascular disease risk and all-cause mortality.

Main Methods:

  • Conducted a multiracial meta-analysis of EWAS across four cohorts (N=8196) for CHIP and its subtypes.
  • Functionally validated EWAS findings using human HSC models of CHIP.
  • Utilized expression quantitative trait methylation and causal inference analyses to link epigenetic changes to transcriptomic alterations and clinical outcomes.

Main Results:

  • Identified thousands of CpG sites associated with CHIP and its subtypes, with distinct methylation patterns for DNMT3A and TET2 CHIP.
  • Demonstrated high concordance between meta-EWAS findings and experimentally edited CHIP HSCs.
  • Revealed 261 CHIP-associated CpGs linked to cardiovascular traits and all-cause mortality.

Conclusions:

  • This study elucidates the epigenetic modifications associated with CHIP, providing insights into its pathogenesis.
  • Identified novel genes and pathways implicated in CHIP-related epigenetic alterations.
  • The findings suggest potential therapeutic targets for mitigating CHIP-mediated age-related diseases and improving cardiovascular health.