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Related Concept Videos

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...
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 Regulation01:46

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 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...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
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: May 9, 2026

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

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

Published on: September 7, 2017

DNA methylation contributes to natural human variation.

Holger Heyn1, Sebastian Moran, Irene Hernando-Herraez

  • 1Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.

Genome Research
|August 3, 2013
PubMed
Summary

DNA methylation influences human variation and traits. Epigenetic changes, alongside genetic factors, contribute to population-specific differences, impacting disease susceptibility and drug responses.

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Area of Science:

  • Human Genetics
  • Epigenetics
  • Population Variation

Background:

  • DNA methylation patterns are crucial for cellular and organismal phenotypes.
  • Their role in natural human variation remains largely unexplored.
  • Understanding these patterns can illuminate population-specific differences.

Purpose of the Study:

  • To investigate the contribution of DNA methylation to natural human variation.
  • To identify differentially methylated CpG sites across diverse human populations.
  • To explore the interplay between genetic variation and epigenetic modifications.

Main Methods:

  • Genome-scale DNA methylation profiling was performed.
  • Three human populations were analyzed: Caucasian-American, African-American, and Han Chinese-American.
  • Differentially methylated CpG sites were identified and examined.

Main Results:

  • Distinctly methylated genes suggest DNA methylation influences phenotypes like disease susceptibility and drug response.
  • A portion of DNA methylation differences is linked to genetic variation, acting as mediators.
  • One-third of methylation differences were independent of genetic variation, indicating epigenetic contributions.

Conclusions:

  • DNA methylation plays a significant role in natural human variation.
  • Both genetic and epigenetic factors contribute to population-specific methylation differences.
  • Epigenetic modifications are key drivers of phenotypic diversity in human populations.