ArticleAmerican journal of human genetics2019
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Discrepancies between ChIP-seq and CUT&Tag histone mark profiles are explained by GC content and chromatin accessibility.bioRxiv : the preprint server for biology · 2026Article
- A comparative analysis of promoter-proximal pausing reveals kinetic and distributional dimensions of variation.bioRxiv : the preprint server for biology · 2026Article
- Evolution of promoter-proximal pausing enabled a new layer of transcription control.Nature structural & molecular biology · 2026Article
- Guanine quadruplexes mediate mitochondrial RNA polymerase pausing.BMC biology · 2025Article
- Probabilistic and machine-learning methods for predicting local rates of transcription elongation from nascent RNA sequencing data.Nucleic acids research · 2025Article
- The RNA tether model for human chromosomal translocation fragile zones.Trends in biochemical sciences · 2024Review
- Distinct negative elongation factor conformations regulate RNA polymerase II promoter-proximal pausing.Molecular cell · 2024Article
- DNA-sequence and epigenomic determinants of local rates of transcription elongation.bioRxiv : the preprint server for biology · 2023Article
- Model-based characterization of the equilibrium dynamics of transcription initiation and promoter-proximal pausing in human cells.Nucleic acids research · 2023Article
- HSV-1 Infection Induces a Downstream Shift of Promoter-Proximal Pausing for Host Genes.Journal of virology · 2023Article
- Predictive model of transcriptional elongation control identifies trans regulatory factors from chromatin signatures.Nucleic acids research · 2023Article
- A common transcriptional mechanism involving R-loop and RNA abasic site regulates an enhancer RNA of APOE.Nucleic acids research · 2022Article
- Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.NPJ genomic medicine · 2022Article
- DSIF modulates RNA polymerase II occupancy according to template G + C content.NAR genomics and bioinformatics · 2022Article
- Article
- The mechanisms of human lymphoid chromosomal translocations and their medical relevance.Critical reviews in biochemistry and molecular biology · 2022Article
- Mechanistic basis for chromosomal translocations at the E2A gene and its broader relevance to human B cell malignancies.Cell reports · 2021Article
- Regulation of Promoter Proximal Pausing of RNA Polymerase II in Metazoans.Journal of molecular biology · 2021Review
- Conserved DNA sequence features underlie pervasive RNA polymerase pausing.Nucleic acids research · 2021Article
- Distinct properties and functions of CTCF revealed by a rapidly inducible degron system.Cell reports · 2021Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Aberrant gene expression underlies many human diseases. RNA polymerase II (Pol II) pausing is a key regulatory step in transcription. Here, we mapped the locations of RNA Pol II in normal human cells and found that RNA Pol II pauses in a consistent manner across individuals and cell types. At more than 1,000 genes including MYO1E and SESN2, RNA Pol II pauses at precise nucleotide locations. Characterization of these sites shows that RNA Pol II pauses at GC-rich regions that are marked by a sequence motif. Sixty-five percent of the pause sites are cytosines. By differential allelic gene expression analysis, we showed in our samples and a population dataset from the Genotype-Tissue Expression (GTEx) consortium that genes with more paused polymerase have lower expression levels. Furthermore, mutagenesis of the pause sites led to a significant increase in promoter activities. Thus, our data uncover that RNA Pol II pauses precisely at sites with distinct sequence features that in turn regulate gene expression.
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