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Understanding Gene Expression Mechanisms

Apr 29, 2025

Lecture Notes: Gene Expression (D2.2)

Introduction to Gene Expression

  • Gene Expression: The process through which genetic information leads to the production of proteins.
    • Genotype: Inherited alleles from parents.
    • Phenotype: Physical expression of traits.
  • Gene: Segment of DNA that codes for a protein.

Stages of Gene Expression

  • Transcription: DNA used as a template to make mRNA.
    • Promoters: Base sequences at the beginning of a gene where RNA polymerase begins transcription.
    • Transcription Factors: Proteins that bind to promoters; can act as enhancers or silencers.
      • Enhancers: Promote transcription.
      • Silencers: Inhibit transcription.
  • Translation: mRNA translated into an amino acid sequence.
  • Protein Function: Resulting proteins perform functions in the cell.

Regulation of Gene Expression

  • Transcription Factors and DNA Regions:
    • Silencers and enhancers are regions upstream of a gene where transcription factors bind.
    • Binding to enhancers increases transcription; binding to silencers decreases transcription.
  • Mature mRNA: Result of post-transcriptional modification includes splicing of exons, 5' cap, and poly-A tail.
    • Poly-A Tail: Length affects mRNA stability and translation frequency.

Cell Differentiation and Epigenesis

  • Cell Specialization: Stem cells differentiate into various cell types through gene expression regulation.
    • Epigenesis: Process of differentiation resulting in different tissues.
    • Epigenetic Tags: Chemical modifications that affect gene expression without altering DNA sequence.

Genomic Terminology

  • Genome: Complete genetic information in a cell.
  • Transcriptome: All mRNA sequences produced by a cell.
  • Proteome: All proteins produced by a cell.

Epigenetic Mechanisms

  • Methylation: Addition of methyl groups to DNA or histone proteins; silences genes.
    • Histone Modification: Methylation affects DNA availability for transcription.
  • Epigenome: Inherited epigenetic tags along with the genome during cell division.

Environmental and Inherited Influences

  • Environmental Factors: Can alter gene expression (e.g., air pollution affecting DNA methylation).
  • Genomic Imprinting: Silencing of specific alleles can affect inheritance patterns.

Case Studies and Examples

  • Imprinting in Lions: Different patterns in males and females affect litter sizes and offspring size.
  • Twin Studies: Monozygotic twins offer insights into nature vs. nurture.
  • Lactose Metabolism: Lactase gene expression regulated by lactose levels.

Hormonal Regulation

  • Hormones: Regulate gene expression by promoting or silencing it.
    • Estrogen: Binds to target genes, altering expression and making tissues responsive to other hormones (e.g., progesterone in the endometrium).

Conclusion

  • Gene expression is a complex process influenced by genetic, environmental, and epigenetic factors. Understanding these mechanisms is crucial for insights into development, differentiation, and disease.