Evidence map›Paper›PMID 35325113›Full record

ArticleG3 (Bethesda, Md.)2022

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.

Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont, Jillian S Parboosingh, A Micheil Innes, François P Bernier, Sarah J Childs

Open access · goldAbstract read
In one paragraph

Article in G3 (Bethesda, Md.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 34% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. The Novel Role of hnRNP UL1 in Human Cell Nucleoli.International journal of biological sciences · 2022
    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

10 authors at 3 institutions in 2 countries.

Danielle L BlackwellDepartment of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID 0000-0002-0529-1199
Sherri D FraserDepartment of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Claudia VivoriCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona 08003, Spain.ORCID 0000-0001-7008-0593
Amanda V TyndallAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Ryan E LamontAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID 0000-0002-7720-068X
Jillian S ParboosinghAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
A Micheil InnesAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID 0000-0001-9881-5467
François P BernierAlberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID 0000-0001-7063-4269
Sarah J ChildsDepartment of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID 0000-0003-2261-580X
University of Calgary · CAUniversitat Pompeu Fabra · ESUniversity of Alberta · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in RNA-binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, limb, and neurological symptoms. Heterogeneous nuclear ribonucleoproteins (hnRNPs) are involved in nucleic acid binding, transcription, and splicing through direct binding to DNA and RNA, or through interaction with other proteins in the spliceosome. We show a developmental role for Hnrnpul1 in zebrafish, resulting in reduced body and fin growth and missing bones. Defects in craniofacial tendon growth and adult-onset caudal scoliosis are also seen. We demonstrate a role for Hnrnpul1 in alternative splicing and transcriptional regulation using RNA-sequencing, particularly of genes involved in translation, ubiquitination, and DNA damage. Given its cross-species conservation and role in splicing, it would not be surprising if it had a role in human development. Whole-exome sequencing detected a homozygous frameshift variant in HNRNPUL1 in 2 siblings with congenital limb malformations, which is a candidate gene for their limb malformations. Zebrafish Hnrnpul1 mutants suggest an important developmental role of hnRNPUL1 and provide motivation for exploring the potential conservation of ancient regulatory circuits involving hnRNPUL1 in human development.

Indexed as

RNA SplicingZebrafishAlternative SplicingAnimalsHeterogeneous-Nuclear RibonucleoproteinsRNAHeterogeneous-Nuclear RibonucleoproteinsRNAalternative splicingcraniofacialHnrnpul1limbscoliosiszebrafish

Identifiers

PMID35325113
PMCPMC9073674
OpenAlexW4221074155

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.