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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.
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...
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...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Extensive sequence-influenced DNA methylation polymorphism in the human genome.

Asaf Hellman1, Andrew Chess

  • 1Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, The Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel. asafh@ekmd.huji.ac.il.

Epigenetics & Chromatin
|May 26, 2010
PubMed
Summary

Epigenetic and genetic variations intertwine to shape human diversity. Around 10% of common genetic variations, specifically single nucleotide polymorphisms (SNPs), show differing DNA methylation patterns between alleles, influencing gene regulation.

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Area of Science:

  • Genomics
  • Epigenetics
  • Human Diversity

Background:

  • Epigenetic polymorphisms contribute to human diversity, but their prevalence and relation to genetic polymorphisms remain unclear.
  • DNA methylation, a key epigenetic regulator of gene expression, is crucial in mammalian cells.
  • Research has primarily focused on CpG island methylation, overlooking patterns outside these regions.

Purpose of the Study:

  • To investigate the frequency and relationship of epigenetic polymorphisms with genetic polymorphisms.
  • To explore DNA methylation patterns on both alleles in related and unrelated individuals.
  • To understand the influence of single nucleotide polymorphisms (SNPs) on local DNA methylation.

Main Methods:

  • Comparative analysis of DNA methylation patterns across alleles in multiple individuals.
  • Utilized direct observation and simulation experiments to analyze methylation propensities.
  • Examined the effect of CpG dinucleotide polymorphisms on cis-DNA methylation.

Main Results:

  • Approximately 10% of common single nucleotide polymorphisms (SNPs) were found in regions with allele-specific DNA methylation differences.
  • Polymorphisms at CpG dinucleotides positively influenced local DNA methylation in cis.
  • Demonstrated allele-specific DNA methylation patterns associated with genetic variations.

Conclusions:

  • The study reveals an interdependence between genetic and epigenetic factors in shaping human genome diversity.
  • DNA methylation's influence on mutation rates, combined with observed methylation patterns, highlights this genetic-epigenetic interplay.
  • Findings suggest a novel mechanism contributing to human genetic and epigenetic variation.