Evidence map›Paper›PMID 34907472›Full record

ReviewHuman genetics2022

Differential fates of introns in gene expression due to global alternative splicing.

Anjani Kumari, Saam Sedehizadeh, John David Brook, Piotr Kozlowski, Marzena Wojciechowska

Open access · hybridAbstract readReview
In one paragraph

Review in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 9% 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

27 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. The "cutting edge" of non-canonical RNA splicing.Frontiers in molecular biosciences · 2026
    Review
  6. Article
  7. Review
  8. Review
  9. Review
  10. Article
  11. Article
  12. Genome-Wide Identification and Functional Analysis ofInternational journal of molecular sciences · 2025
    Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Formation of Circular RNAs.Advances in experimental medicine and biology · 2025
    Review
  18. Article
  19. Article
  20. Article
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

5 authors at 2 institutions in 2 countries.

Anjani KumariQueen's Medical Centre, School of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Saam SedehizadehQueen's Medical Centre, School of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
John David BrookQueen's Medical Centre, School of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
Piotr KozlowskiDepartment of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland.
Marzena WojciechowskaDepartment of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland. mwojska@ibch.poznan.pl.ORCID http://orcid.org/0000-0001-5025-2407
University of Nottingham · GBInstitute of Bioorganic Chemistry, Polish Academy of Sciences · PL

Funding

Medical Research Council G0802629Narodowe Centrum Nauki 2020/39/B/NZ3/01811Narodowe Centrum Nauki P2019/33/B/NZ5/02473
6 · The paper itself

Abstract

The discovery of introns over four decades ago revealed a new vision of genes and their interrupted arrangement. Throughout the years, it has appeared that introns play essential roles in the regulation of gene expression. Unique processing of excised introns through the formation of lariats suggests a widespread role for these molecules in the structure and function of cells. In addition to rapid destruction, these lariats may linger on in the nucleus or may even be exported to the cytoplasm, where they remain stable circular RNAs (circRNAs). Alternative splicing (AS) is a source of diversity in mature transcripts harboring retained introns (RI-mRNAs). Such RNAs may contain one or more entire retained intron(s) (RIs), but they may also have intron fragments resulting from sequential excision of smaller subfragments via recursive splicing (RS), which is characteristic of long introns. There are many potential fates of RI-mRNAs, including their downregulation via nuclear and cytoplasmic surveillance systems and the generation of new protein isoforms with potentially different functions. Various reports have linked the presence of such unprocessed transcripts in mammals to important roles in normal development and in disease-related conditions. In certain human neurological-neuromuscular disorders, including myotonic dystrophy type 2 (DM2), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS) and Duchenne muscular dystrophy (DMD), peculiar processing of long introns has been identified and is associated with their pathogenic effects. In this review, we discuss different mechanisms involved in the processing of introns during AS and the functions of these large sections of the genome in our biology.

Indexed as

Alternative SplicingGene ExpressionIntronsAmyotrophic Lateral SclerosisAnimalsCell NucleusDiseaseFrontotemporal DementiaHumansMammalsMuscular Dystrophy, DuchenneMyotonic DystrophyRNA, CircularRNA, MessengerRNA, CircularRNA, Messenger

Identifiers

PMID34907472
PMCPMC8758631
OpenAlexW4200245263

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.