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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.
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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.
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Enhancer, epigenetics, and human disease.

Zhuojuan Luo1, Chengqi Lin2

  • 1Transcriptional Control in Development and Disease Laboratory, A*STAR Institute of Molecular and Cell Biology, 61 Biopolis Drive Proteos, Singapore 138673, Singapore.

Current Opinion in Genetics & Development
|April 25, 2016
PubMed
Summary

Enhancers are crucial for gene expression in development and disease. New genomic technologies enable their study, promising advances in linking genetic variants to phenotypes and advancing precision medicine.

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Area of Science:

  • Genomics
  • Developmental Biology
  • Molecular Biology

Background:

  • Enhancers are regulatory DNA elements critical for precise tissue-specific gene expression during development.
  • Enhancers are increasingly recognized for their role in disease pathogenesis by directing aberrant transcriptional programs.
  • Understanding enhancer function is vital for deciphering gene regulation in health and disease.

Purpose of the Study:

  • To highlight the significance of enhancers in normal development and disease.
  • To discuss the impact of new genomic technologies on enhancer research.
  • To underscore the potential of enhancer studies in advancing precision medicine.

Main Methods:

  • Identification of enhancers using high-throughput genomic technologies.
  • Functional characterization of enhancer activity in relevant biological contexts.
  • Manipulation of enhancers to study their role in gene expression and disease.

Main Results:

  • Enhancers contain extensive information dictating tissue-specific gene expression patterns.
  • Enhancers are implicated as key drivers of disease-associated transcriptional changes.
  • Genomic technologies facilitate comprehensive enhancer analysis.

Conclusions:

  • Advances in enhancer research offer powerful tools for understanding gene regulation.
  • The study of enhancers holds significant promise for linking genetic variations to developmental and disease phenotypes.
  • Targeting enhancers represents a potential avenue for developing novel precision medicine strategies.