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An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
Published on: April 5, 2018
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The complexity of epigenetic diseases.
Ailbhe Jane Brazel1, Douglas Vernimmen1
1The Roslin Institute, Developmental Biology Division, University of Edinburgh, Easter Bush, Midlothian, UK.
The Journal of Pathology
|October 1, 2015
Summary
Pathogenic mutations in enhancer regions and epigenetic regulators are linked to disease. These epigenetic mechanisms are key biomarkers for disease development and potential therapeutic targets, especially in cancer.
Area of Science:
- Genetics
- Epigenetics
- Molecular Biology
Background:
- Over 30 years, numerous pathogenic mutations in enhancer regions and epigenetic regulators identified.
- Genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) highlight regulatory mutations' role in disease.
Purpose of the Study:
- Discuss disease-causing mutations in enhancers and epigenetic regulators.
- Focus on the role of these mutations in cancer development.
Main Methods:
- Review of identified pathogenic mutations.
- Analysis of GWAS and EWAS data.
- Literature review focusing on cancer epigenetics.
Main Results:
- Pathogenic mutations in enhancers and epigenetic regulators are diverse.
- These mutations are implicated in various disease pathologies.
- Epigenetic mechanisms are crucial in disease development.
Conclusions:
- Epigenetic mechanisms serve as vital biomarkers for disease.
- Epigenetic alterations represent potential therapeutic targets.
- Understanding these mutations is critical for cancer research and treatment.
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