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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.
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...
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...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

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An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
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Epigenome mapping in normal and disease States.

Alika K Maunakea1, Iouri Chepelev, Keji Zhao

  • 1Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.

Circulation Research
|August 7, 2010
PubMed
Summary

Epigenomes, dynamic modifications like DNA methylation, influence cell identity and disease susceptibility. Mapping epigenomes offers new insights into development and disease, enabling novel diagnostic and treatment strategies.

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Area of Science:

  • Genomics and Epigenetics
  • Molecular Biology
  • Human Health and Disease

Background:

  • Epigenomes comprise genome-wide chromatin modifications (e.g., DNA methylation, histone modifications).
  • Epigenomes are dynamic, crucial for cell differentiation, gene expression, and adaptation to environmental cues.
  • Epigenomic variability contributes to phenotypic variability and disease susceptibility beyond DNA sequence variations.

Purpose of the Study:

  • To provide an overview of epigenetic processes and their relevance to human health.
  • To review technologies for epigenome mapping.
  • To explore applications of epigenome mapping, particularly epigenome-wide association studies (eGWAS).

Main Methods:

  • Review of existing literature on epigenetic processes.
  • Analysis of studies employing epigenome mapping technologies.
  • Discussion of epigenome-wide association studies (eGWAS) methodology.

Main Results:

  • Epigenetic modifications are dynamic and essential for cellular identity and function.
  • Epigenomic variability is linked to phenotypic differences and disease risk.
  • Epigenome mapping technologies are advancing the field.

Conclusions:

  • Capturing epigenomic information is vital for understanding development, differentiation, and disease.
  • Epigenome mapping, especially eGWAS, holds potential to revolutionize human disease studies.
  • This approach may lead to novel diagnostic, preventative, and therapeutic strategies for diseases.