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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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Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
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Human gene expression variability and its dependence on methylation and aging.

Nasser Bashkeel1, Theodore J Perkins2, Mads Kærn3

  • 1Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario, K1H 8M5, Canada.

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|December 8, 2019
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Human gene expression variability is influenced by age and methylation, impacting tissue development and aging. Understanding these factors is key to identifying genes regulating development and disease.

Keywords:
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Area of Science:

  • Genomics
  • Human Population Genetics
  • Molecular Biology

Background:

  • Human phenotypic variability arises from gene polymorphism and differential gene expression.
  • Understanding gene expression variance and control mechanisms is crucial for explaining human diversity.
  • The influence of gene methylation, age, sex, and tissue-specific factors on expression variability remains unclear.

Purpose of the Study:

  • To classify human genes based on expression variability using a novel method accounting for sampling error.
  • To investigate the relationship between gene expression variability and factors like tissue type, age, sex, and methylation.

Main Methods:

  • Utilized a novel method incorporating sampling error correction.
  • Analyzed gene expression variability in normal human breast and brain tissues.
  • Examined age-dependency, sex-dependency, and methylation status in relation to expression variability.

Main Results:

  • High expression variability is predominantly unimodal, not indicative of distinct expression states.
  • Genes with high expression variability show significant differences between tissues.
  • High population expression variability correlates with age but not sex.
  • Low expression variability is associated with non-methylated genes, suggesting methylation's role in control.

Conclusions:

  • Gene expression variability is significant for human tissue development, identity, methylation, and aging.
  • Classifying genes by Hyper-Variability or Hypo-Variability aids in identifying key regulators of development and disease.