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Related Concept Videos

Epigenetic Regulation01:37

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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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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...
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Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
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A symbiotic liaison between the genetic and epigenetic code.

Holger Heyn1

  • 1Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute Barcelona, Spain.

Frontiers in Genetics
|May 14, 2014
PubMed
Summary

Data integration, especially using DNA methylation, helps interpret genetic variations for a data-driven research era. This approach reveals functional genetic variability and mechanisms in health and disease.

Keywords:
DNA methylationDNA methylation quantitaive trait lociEWASGWASepigenetic regulation

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Area of Science:

  • Genomics
  • Epigenetics
  • Bioinformatics

Background:

  • Genomic research is shifting towards data-driven approaches.
  • Interpreting genetic variation, especially in non-coding regions, remains a challenge.
  • Genome-wide profiling provides insights but requires robust interpretation strategies.

Purpose of the Study:

  • To highlight the power of data integration in the genomic era.
  • To demonstrate how integrating genetic and epigenetic data aids in understanding functional variability.
  • To showcase DNA methylation quantitative trait loci as a key example.

Main Methods:

  • Functional linkage analysis integrating genotype and expression data.
  • Utilizing DNA methylation as a surrogate marker for genetic variation.
  • Integrative studies combining genetic and DNA methylation data.

Main Results:

  • Identification of regulatory quantitative trait loci and causal relationships.
  • DNA methylation serves as a valuable indicator of functional genetic variance.
  • Integrative analyses guide the interpretation of risk genotypes and physiological traits.

Conclusions:

  • Data integration is crucial for meaningful interpretation of genomic data.
  • DNA methylation quantitative trait loci exemplify the utility of integrating molecular data.
  • This integrative model is extendable to various molecular traits for understanding health and disease.