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Транскриптомика и эпигеномика

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Learning objectives

  • Genetics vs epigenetics: What's the difference?
  • How cells with the same genome manage to express different genes?

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This lactose metabolism system was used by François Jacob and Jacques Monod to determine how a biological cell knows which enzyme to synthesize. Their work on the lac operon won them the Nobel Prize in Physiology in 1965

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lac-operon – example of a “classical” (NOT epigenetic) gene regulation

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Part 1. Biological background.�Epigenetics

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У каких организмов есть эпигенетическая регуляция и зачем она нужна?

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A new challenge for multicellular organisms

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Levels of regulation of gene expression

  • Transcription initiation
  • Transcription elongation
  • Transcription termination

  • RNA processing (splicing)
  • RNA transportation
  • RNA decay

  • Translation initiation
  • Translation elongation
  • Translation termination

  • Protein modification
  • Protein degradation

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DNA is not the only factor

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Genetics vs epigenetics

There are at least two forms of information in the cell:

Genetic information: provides the building block for the manufacture of all proteins needed for the cell functional activity;

Epigenetic information: provides additional instruction on how, when and where these information should be used.

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What is epigenetics?

  • Mechanism to regulate gene expression
  • Caused by internal or environmental factors
  • But not caused by changes in the DNA sequence

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Molecular basis of epigenetics

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Types of epigenetic regulation

  • DNA accessibility
    • heterochromatin vs euchromatin
    • topologically associated domains (TADs)
    • etc

  • DNA methylation

  • Histone modifications

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DNA accessibility (DNA packing)

Packing of DNA is required to fit into the nucleus

Molecular Biology of the Cell, 4th ed.

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DNA methylation

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Histone modifications

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Epigenetics kicks genetics

  • Cellular differentiation
  • Cell identity maintenance
  • Genomic imprinting
  • Transgenerational inheritance
  • Identical twins
  • Memory formation and learning
  • … and many others

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A bit of history

Waddington’s epigenetics landscape (1942):

When the term was invented the physical nature of genes and their role in heredity was not known; he used it as a conceptual model of how genes might interact with the environment to produce a phenotype.

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Multicellular organisms: one genome – different epigenomes

During morphogenesis a single fertilized egg cell – the zygote – divides and the resulting daughter cells change into all the different cell types in an organism by activating some genes and repressing others.

Chaudry, A. (2004). Stem Cell Bioengineering

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Example: X-chromosome inactivation

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Example: genetic imprinting

In mammals, some gene (imprinted genes) bypass epigenetic reprogramming keeping the epigenetic profile. As a result only one copy of an imprinted gene is active in normal individual.

http://learn.genetics.utah.edu/content/epigenetics/imprinting/

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Reversibility of epigenetic changes

Epimutations are more easily reversible than classical mutations: giving evolution more flexibility – selection for epigenetic variability and giving us a change to be not only what our genes are

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Part 2. Biological background.�Epigenetic mechanisms: DNA methylation

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Learning objectives

  • Get an idea about levels of epigenetic regulation

  • Get an idea about the role of DNA methylation in transcription regulation

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Function of DNA methylation: �CpG islands

- (C+G) >= 50%

- Obs CpG / Exp CpG >= 60%

- Length >= 200 bp

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DNA methylation and cancer

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Igf2 imprinting

Igf2 (Insulin-like growth factor 2) is a major fetal growth factor