Evidence map›Paper›PMID 25662218›Full record

ArticleNucleic acids research2015

FUBP1: a new protagonist in splicing regulation of the DMD gene.

Julie Miro, Abdelhamid Mahdi Laaref, Valérie Rofidal, Rosyne Lagrafeuille, Sonia Hem, Delphine Thorel, Déborah Méchin, Kamel Mamchaoui, Vincent Mouly, Mireille Claustres and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

23 citing papers in PubMed, 34 citations in OpenAlex.

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  15. Mechanistic studies of a small-molecule modulator of SMN2 splicing.Proceedings of the National Academy of Sciences of the United States of America · 2018
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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

11 authors at 4 institutions in 1 country.

Julie MiroUniversité Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France.
Abdelhamid Mahdi LaarefUniversité Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France.
Valérie RofidalUR1199 Laboratoire de Protéomique Fonctionnelle, INRA, 34060 Montpellier cedex, France.
Rosyne LagrafeuilleUniversité Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France.
Sonia HemUR1199 Laboratoire de Protéomique Fonctionnelle, INRA, 34060 Montpellier cedex, France.
Delphine ThorelCHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, F-34000 Montpellier, France.
Déborah MéchinCHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, F-34000 Montpellier, France.
Kamel MamchaouiInstitut de Myologie, UM76 Université Pierre et Marie Curie (UPMC), Paris, France INSERM U 974, Paris, France CNRS UMR 7215, Paris, France.
Vincent MoulyInstitut de Myologie, UM76 Université Pierre et Marie Curie (UPMC), Paris, France INSERM U 974, Paris, France CNRS UMR 7215, Paris, France.
Mireille ClaustresUniversité Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, F-34000 Montpellier, France.
Sylvie Tuffery-GiraudUniversité Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France sylvie.tuffery@inserm.fr.
Inserm · FRCentre National de la Recherche Scientifique · FRHôpital Arnaud de Villeneuve · FRInstitut de Génomique Fonctionnelle · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We investigated the molecular mechanisms for in-frame skipping of DMD exon 39 caused by the nonsense c.5480T>A mutation in a patient with Becker muscular dystrophy. RNase-assisted pull down assay coupled with mass spectrometry revealed that the mutant RNA probe specifically recruits hnRNPA1, hnRNPA2/B1 and DAZAP1. Functional studies in a human myoblast cell line transfected with DMD minigenes confirmed the splicing inhibitory activity of hnRNPA1 and hnRNPA2/B1, and showed that DAZAP1, also known to activate splicing, acts negatively in the context of the mutated exon 39. Furthermore, we uncovered that recognition of endogenous DMD exon 39 in muscle cells is promoted by FUSE binding protein 1 (FUBP1), a multifunctional DNA- and RNA-binding protein whose role in splicing is largely unknown. By serial deletion and mutagenesis studies in minigenes, we delineated a functional intronic splicing enhancer (ISE) in intron 38. FUBP1 recruitment to the RNA sequence containing the ISE was established by RNA pull down and RNA EMSA, and further confirmed by RNA-ChIP on endogenous DMD pre-mRNA. This study provides new insights about the splicing regulation of DMD exon 39, highlighting the emerging role of FUBP1 in splicing and describing the first ISE for constitutive exon inclusion in the mature DMD transcript.

Indexed as

Alternative SplicingCodon, NonsenseBinding SitesCell LineDNA-Binding ProteinsDNA HelicasesDystrophinExonsHumansIntronsRegulatory Sequences, Ribonucleic AcidRNA-Binding ProteinsCodon, NonsenseDMD protein, humanDNA-Binding ProteinsDNA HelicasesDystrophinFUBP1 protein, humanRegulatory Sequences, Ribonucleic AcidRNA-Binding Proteins

Identifiers

PMID25662218
PMCPMC4344520
OpenAlexW2121179927

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.