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Related Concept Videos

Regulation of Expression at Multiple Steps01:23

Regulation of Expression at Multiple Steps

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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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Regulation of Expression Occurs at Multiple Steps02:24

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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
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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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What is Gene Expression?01:42

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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
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Related Experiment Video

Updated: Dec 31, 2025

Describing a Transcription Factor Dependent Regulation of the MicroRNA Transcriptome
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Transcript specific regulation of expression influences susceptibility to multiple sclerosis.

Maria Ban1, Wenjia Liao2, Amie Baker2

  • 1Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Box 165, Hills Road, Cambridge, CB2 0QQ, UK. mb531@medschl.cam.ac.uk.

European Journal of Human Genetics : EJHG
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Summary

Multiple sclerosis (MS) risk variants may alter gene function by changing the balance of gene transcripts, not just overall expression levels. This finding offers new insights into MS pathogenesis and potential therapeutic targets.

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Area of Science:

  • Genetics
  • Immunology
  • Neuroscience

Background:

  • Genome-wide association studies (GWAS) have identified over 100 genetic loci associated with multiple sclerosis (MS) risk.
  • Most MS-associated loci are in non-coding regulatory regions, suggesting they influence risk by altering gene expression in immune cells.

Purpose of the Study:

  • To investigate whether MS-associated variants affect gene expression by modulating allele-specific expression (ASE) of coding variants.
  • To explore the mechanism by which genetic variants influence multiple sclerosis risk.

Main Methods:

  • Screened genes near MS-associated variants for allele-specific expression (ASE) using coding variants in linkage disequilibrium with MS-associated single nucleotide variants (SNVs).
  • Analyzed 200 coding variants in CD4+ and CD8+ T cells from MS patients and controls.
  • Replicated findings for the LIME1 gene using quantitative PCR (qPCR).

Main Results:

  • Identified 56 coding variants (in 43 genes) with significant ASE in T cells.
  • Demonstrated that the MS-associated variant rs2256814 in the LIME1 gene alters the balance of alternate LIME1 transcripts.
  • Replicated the effect of rs2256814 on LIME1 transcript balance in an independent cohort.

Conclusions:

  • MS-associated SNVs likely influence disease risk by altering the balance of gene transcripts, rather than solely changing overall gene expression levels.
  • These findings provide a new mechanistic understanding of how genetic risk factors contribute to multiple sclerosis.