Evidence map›Paper›PMID 31988292›Full record

ArticleNature communications2020

Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations.

David S M Lee, Louis R Ghanem, Yoseph Barash

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed
5.3field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

70 citing papers in PubMed, 95 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Review
  10. Investigating Potential 5' UTR G-Quadruplexes Within NRF2 mRNA.Current issues in molecular biology · 2026
    Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

10 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

David S M LeeDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID http://orcid.org/0000-0002-8821-9028
Louis R GhanemDivision of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA. GHANEML@email.chop.edu.ORCID http://orcid.org/0000-0002-7723-5241
Yoseph BarashDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. yosephb@upenn.edu.ORCID http://orcid.org/0000-0003-3005-5048
University of Pennsylvania · USChildren's Hospital of Philadelphia · US

Funding

Training Program in Computational GenomicsT32HG000046 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI JUNHYONG KIM, Mingyao Li · 1999 to 2026
$9.5M
Methods for RNA splicing variations detection, quantification, visualization, and association from large heterogeneous datasetsR01GM128096 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI BARASH, YOSEPH · 2018 to 2021
$1.8M
NHGRI NIH HHS T32 HG000046NIGMS NIH HHS R01 GM128096U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) 5T32HG000046-20U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) GM128096
6 · The paper itself

Abstract

G-quadruplex (G4) sequences are abundant in untranslated regions (UTRs) of human messenger RNAs, but their functional importance remains unclear. By integrating multiple sources of genetic and genomic data, we show that putative G-quadruplex forming sequences (pG4) in 5' and 3' UTRs are selectively constrained, and enriched for cis-eQTLs and RNA-binding protein (RBP) interactions. Using over 15,000 whole-genome sequences, we find that negative selection acting on central guanines of UTR pG4s is comparable to that of missense variation in protein-coding sequences. At multiple GWAS-implicated SNPs within pG4 UTR sequences, we find robust allelic imbalance in gene expression across diverse tissue contexts in GTEx, suggesting that variants affecting G-quadruplex formation within UTRs may also contribute to phenotypic variation. Our results establish UTR G4s as important cis-regulatory elements and point to a link between disruption of UTR pG4 and disease.

Indexed as

G-QuadruplexesUntranslated RegionsGenetic Association StudiesGenetic VariationHumansNucleotide MotifsRNA-Binding ProteinsRNA FoldingRNA-Binding ProteinsUntranslated Regions

Identifiers

PMID31988292
PMCPMC6985247
OpenAlexW3002859220

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.