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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.
X-chromosome...
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Epigenetic Regulation01:46

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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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Nucleosome Remodeling02:54

Nucleosome Remodeling

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Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
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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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Position-effect Variegation02:32

Position-effect Variegation

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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.
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Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
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Updated: Jan 5, 2026

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
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Enhancer Dysfunction in 3D Genome and Disease.

Ji-Han Xia1, Gong-Hong Wei2

  • 1Biocenter Oulu, Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland. jihan.xia@oulu.fi.

Cells
|October 23, 2019
PubMed
Summary
This summary is machine-generated.

Enhancer elements regulate gene expression critical for development and disease. Dysfunctional enhancers, identified through advanced genomics, contribute to cancer initiation and progression by altering gene activity and transcription factor binding.

Keywords:
GWASallele-specific chromatin bindingcancercancer risk variantschromatin looping and 3D genomeenhancer chromatinepigenetic marksgene transcription

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Area of Science:

  • Genomics
  • Molecular Biology
  • Cancer Research

Background:

  • Gene expression spatiotemporal patterns are crucial for development and disease.
  • High-throughput techniques have defined enhancer chromatin properties and 3D genome architecture.
  • Enhancers interact with gene promoters via 3D genome looping.

Purpose of the Study:

  • To review the role of genetic regulatory circuits in cancer predisposition.
  • To explore how genome-editing methods elucidate the impact of genomic variation on cancer.
  • To discuss improved cancer management and treatment strategies.

Main Methods:

  • Genome-wide association studies (GWAS).
  • Functional genomics analyses.
  • Genome-editing technologies.

Main Results:

  • Enhancer dysfunction is prevalent in cancer, misregulating gene expression.
  • Cancer risk variants in enhancers alter gene expression via 3D genomic interactions.
  • Enhancer variants affect transcription factor binding, leading to aberrant gene expression.

Conclusions:

  • Genetic regulatory circuits involving enhancers significantly impact cancer predisposition.
  • Genome editing aids in understanding genomic variation's effect on cancer phenotype.
  • Insights can lead to better cancer management and treatment responses.