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Related Concept Videos

Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Translation01:31

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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What is Gene Expression?01:36

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Related Experiment Video

Updated: Oct 19, 2025

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.

Eleonora Porcu1,2,3, Marie C Sadler4,5, Kaido Lepik6,7

  • 1Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. eleonora.porcu@unil.ch.

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Comparing gene expression in healthy versus diseased individuals often reveals disease-induced changes. Our method shows gene expression changes are typically consequences, not causes, of disease.

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Area of Science:

  • Genomics
  • Systems Biology
  • Statistical Genetics

Background:

  • Differential gene expression analysis compares transcript levels between healthy and diseased individuals.
  • Identifying causal relationships between gene expression and disease is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To develop a method to disentangle observational correlations between gene expression and phenotypes into components driven by confounders, forward causal effects, and reverse causal effects.
  • To investigate the directionality of causal effects between gene expression and complex traits.

Main Methods:

  • Utilized Mendelian Randomization (MR) integrating summary-level data from Genome-Wide Association Studies (GWAS) and whole-blood expression Quantitative Trait Loci (eQTLs).
  • Applied the bi-directional MR approach to estimate causal effects between gene expression and complex traits.

Main Results:

  • Forward causal effects (trait influencing gene expression) showed negligible contribution to the observed correlations.
  • Correlation coefficients between Body Mass Index (BMI) and triglycerides (TG) with gene expression robustly correlated with trait-to-expression causal effects (rBMI=0.11, PTG=1.1×10⁻⁶⁸).
  • Expression-to-trait causal effects were not detectably significant.

Conclusions:

  • Observational studies comparing transcriptomes of diseased and healthy subjects are more likely to identify disease-induced gene expression changes.
  • Gene expression changes are predominantly consequences rather than causes of complex traits and diseases.