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Related Concept Videos

RNA Polymerase II Accessory Proteins02:36

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Proteins that regulate transcription can do so either via direct contact with RNA Polymerase or through indirect interactions facilitated by adaptors, mediators, histone-modifying proteins, and nucleosome remodelers. Direct interactions to activate transcription is seen in bacteria as well as in some eukaryotic genes. In these cases, upstream activation sequences are adjacent to the promoters, and the activator proteins interact directly with the transcriptional machinery. For example, in...
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RNA Polymerase (RNAP) is conserved in all animals, with bacterial, archaeal, and eukaryotic RNAPs sharing significant sequence, structural, and functional similarities. Among the three eukaryotic RNAPs, RNA Polymerase II is most similar to bacterial RNAP in terms of both structural organization and folding topologies of the enzyme subunits. However, these similarities are not reflected in their mechanism of action.
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Unlike eukaryotes, bacteria use a single RNA Polymerase (RNAP) to transcribe all genes. The different subunits of bacterial RNAPhave distinct functions. The multisubunit structure of the bacterial RNAP helps the enzyme to maintain catalytic function, facilitate assembly, interact with DNA and RNA, and self-regulate its activity.
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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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Gene expression is the complex process where a cell uses its genetic information to make functional products. This process is regulated at multiple stages, and any misregulation could lead to diseases such as cancer. This video highlights important historical discoveries relating to gene expression, including the understanding of how distinct combinations of DNA bases encode the amino acids that make up proteins. Key questions in the field of gene expression research are explored, followed by a...
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Related Experiment Video

Updated: Jan 19, 2026

RNA Polymerase II Accessory Proteins
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cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.

Jason A Watts1, Joshua Burdick2, Jillian Daigneault3

  • 1Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA.

American Journal of Human Genetics
|September 10, 2019
PubMed
Summary
This summary is machine-generated.

Precise RNA polymerase II (Pol II) pausing at specific DNA sites regulates gene expression. This consistent pausing mechanism across human cells offers new insights into disease-related gene dysregulation.

Keywords:
RNA polymeraseRNA polymerase pausinggene expressiontranscription

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Area of Science:

  • Molecular Biology
  • Genetics
  • Genomics

Background:

  • Aberrant gene expression is implicated in numerous human diseases.
  • RNA polymerase II (Pol II) pausing is a critical regulatory checkpoint in gene transcription.

Purpose of the Study:

  • To map the precise locations of RNA Pol II pausing in normal human cells.
  • To characterize the sequence features of these pause sites and their impact on gene expression.

Main Methods:

  • Genome-wide mapping of RNA Pol II locations in human cells.
  • Sequence analysis of identified RNA Pol II pause sites.
  • Differential allelic gene expression analysis using sample and GTEx data.
  • Mutagenesis studies to assess the functional impact of pause sites.

Main Results:

  • RNA Pol II exhibits consistent pausing at precise nucleotide locations across individuals and cell types, affecting over 1,000 genes.
  • Pause sites are characterized by GC-rich regions with a specific sequence motif, frequently containing cytosines (65%).
  • Increased RNA Pol II pausing correlates with decreased gene expression levels, and mutagenesis of pause sites enhances promoter activity.

Conclusions:

  • RNA Pol II pausing occurs at specific sequence-defined sites, acting as a precise regulatory mechanism for gene expression.
  • Understanding these precise pausing events provides a novel perspective on gene regulation and its role in human diseases.