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Related Concept Videos

Histone Modification02:32

Histone Modification

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
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Epigenetic Regulation01:37

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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
Inheritance of Chromatin Structures03:17

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 SNPs02:26

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%...

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Related Experiment Video

Updated: Jun 5, 2026

DNA Methylation: Bisulphite Modification and Analysis
12:34

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines.

Jordana T Bell1, Athma A Pai, Joseph K Pickrell

  • 1Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA. jordana@well.ox.ac.uk

Genome Biology
|January 22, 2011
PubMed
Summary

Genetic factors significantly influence DNA methylation (a key epigenetic mechanism) variation between individuals. Shared genetic mechanisms link DNA methylation and gene expression, impacting gene regulation and disease.

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Last Updated: Jun 5, 2026

DNA Methylation: Bisulphite Modification and Analysis
12:34

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
09:42

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LINE-1 Methylation Analysis in Mesenchymal Stem Cells Treated with Osteosarcoma-Derived Extracellular Vesicles
12:18

LINE-1 Methylation Analysis in Mesenchymal Stem Cells Treated with Osteosarcoma-Derived Extracellular Vesicles

Published on: February 1, 2020

Area of Science:

  • Epigenetics
  • Genomics
  • Molecular Biology

Background:

  • DNA methylation is a crucial epigenetic mechanism for gene regulation and disease.
  • Mechanisms driving inter-individual differences in DNA methylation profiles are not well understood.
  • This study investigated genetic influences on DNA methylation variation.

Purpose of the Study:

  • To identify genetic variants associated with DNA methylation levels.
  • To explore the relationship between DNA methylation and gene expression.
  • To understand shared genetic underpinnings of epigenetic regulation.

Main Methods:

  • Measured DNA methylation at 22,290 CpG sites in Yoruba individuals' lymphoblastoid cell lines.
  • Performed genome-wide association studies (GWAS) of methylation levels against millions of single nucleotide polymorphisms (SNPs).
  • Analyzed genome-wide gene expression data using RNA-sequencing.

Main Results:

  • Identified 180 CpG sites in 173 genes associated with nearby SNPs (cis-acting associations).
  • Observed a genome-wide significant trans-acting association for SNP rs10876043 with methylation patterns.
  • Found significant negative correlations between promoter methylation and gene expression, with overlapping SNPs affecting both.

Conclusions:

  • Inter-individual variation in DNA methylation profiles is strongly influenced by genetics.
  • Enrichment of SNPs affecting both methylation and gene expression suggests shared regulatory mechanisms.
  • These findings provide insights into the genetic control of epigenetic variation and gene expression.