Evidence map›Paper›PMID 23775717›Full record

ArticleBlood2013

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms.

Bartlomiej Przychodzen, Andres Jerez, Kathryn Guinta, Mikkael A Sekeres, Richard Padgett, Jaroslaw P Maciejewski, Hideki Makishima

Abstract read
In one paragraph

Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers.

0numbers the graph read from it
0cells of the map it votes in
106citing papers in PubMed
–field-weighted citation impact
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

106 citing papers in PubMed.

  1. Trial
  2. Article
  3. U2af1Leukemia · 2026
    Article
  4. Article
  5. Article
  6. bioRxiv : the preprint server for biology · 2024
    Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Review
  18. Review
  19. Review
  20. Article

46 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

7 authors.

Bartlomiej PrzychodzenDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Andres Jerez
Kathryn Guinta
Mikkael A Sekeres
Richard Padgett
Jaroslaw P Maciejewski
Hideki Makishima

Funding

Investigations of Consequences of U2AF1 Mutations in MDSR01HL118281 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI MACIEJEWSKI, JAROSLAW P., PADGETT, RICHARD A · 2013 to 2017
$1.9M
Mechanistic consequences of mutations in spliceosomal snRNAsR01GM104059 · NIGMS · CLEVELAND CLINIC LERNER COM-CWRU · PI PADGETT, RICHARD A · 2013 to 2016
$1.5M
Predisposition to chromosomal alterations in MDSR01HL082983 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI MACIEJEWSKI, JAROSLAW P. · 2005 to 2008
$1.5M
Training/Research Center-Bone Marrow Failure SyndromesK24HL077522 · NHLBI · CLEVELAND CLINIC LERNER COM-CWRU · PI MACIEJEWSKI, JAROSLAW P. · 2005 to 2014
$1.2M
LASER SCANNING CONFOCAL MICROSCOPE: NEUROSCIENCES10RR019391 · NCRR · UNIVERSITY OF LOUISVILLE · PI EPSTEIN, PAUL N. · 2004 to 2004
$315k
NCRR NIH HHS S10 RR019391NCRR NIH HHS U54 RR019391NHLBI NIH HHS K24 HL-077522NHLBI NIH HHS K24 HL077522NHLBI NIH HHS R01 HL082983NHLBI NIH HHS R01HL-082983NHLBI NIH HHS R01 HL118281NIGMS NIH HHS R01 GM104059NIGMS NIH HHS R01-GM104059
6 · The paper itself

Abstract

Recently, recurrent mutations of spliceosomal genes were frequently identified in myeloid malignancies, as well as other types of cancers. One of these spliceosomal genes, U2AF1, was affected by canonical somatic mutations in aggressive type of myeloid malignancies. We hypothesized that U2AF1 mutations causes defects of splicing (missplicing) in specific genes and that such misspliced genes might be important in leukemogenesis. We analyzed RNA deep sequencing to compare splicing patterns of 201 837 exons between the cases with U2AF1 mutations (n = 6) and wild type (n = 14). We identified different alternative splicing patterns in 35 genes comparing cells with mutant and wild-type U2AF1. U2AF1 mutations are associated with abnormal splicing of genes involved in functionally important pathways, such as cell cycle progression and RNA processing. In addition, many of these genes are somatically mutated or deleted in various cancers. Of note is that the alternative splicing patterns associated with U2AF1 mutations were associated with specific sequence signals at the affected splice sites. These novel observations support the hypothesis that U2AF1 mutations play a significant role in myeloid leukemogenesis due to selective missplicing of tumor-associated genes.

Indexed as

Alternative SplicingCohort StudiesDNA Mutational AnalysisExonsFemaleGene Expression ProfilingGenotypeHematologic NeoplasmsHumansLeukemia, Myeloid, AcuteMaleMutation, MissenseMyelodysplastic SyndromesMyeloproliferative DisordersNuclear ProteinsRibonucleoproteinsNuclear ProteinsRibonucleoproteinsSplicing Factor U2AFU2AF1 protein, human

Identifiers

PMID23775717
PMCPMC3739042

What OpenQuestion holds

Textmetadata
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.