Evidence map›Paper›PMID 24675841›Full record

ArticlePLoS genetics2014

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.

Pavan Kumar P, Sarah Franklin, Uchenna Emechebe, Hao Hu, Barry Moore, Chris Lehman, Mark Yandell, Anne M Moon

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

19 citing papers in PubMed, 39 citations in OpenAlex.

  1. Article
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  5. Ulnar-Mammary syndrome withZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022
    Review
  6. Genes · 2022
    Article
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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

8 authors at 2 institutions in 1 country.

Pavan Kumar PDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.
Sarah FranklinDepartment of Internal Medicine and the Nora Eccles Harrison Cardiovascular Research & Training Institute, University of Utah, Salt Lake City, Utah, United States of America; Department of Anesthesiology, University of California Los Angeles, Los Angeles, California, United States of America.
Uchenna EmechebeDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, Utah, United States of America.
Hao HuDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Barry MooreDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Chris LehmanDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America.
Mark YandellDepartment of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
Anne M MoonDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, Utah, United States of America; Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America; Molecular Medicine Program, University of Utah, Salt Lake City, Utah, United States of America; Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania, United States of America.
University of Utah · USGeisinger Medical Center · US

Funding

Mutagenesis of Tbx3: a model of ulnar-mammary syndromeR01HD046767 · NICHD · UNIVERSITY OF UTAH · PI MOON, ANNE M · 2005 to 2010
$1.7M
NICHD NIH HHS R01 HD046767NICHD NIH HHS R01HD046767
6 · The paper itself

Abstract

TBX3 is a member of the T-box family of transcription factors with critical roles in development, oncogenesis, cell fate, and tissue homeostasis. TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome. Previous investigations into TBX3 function focused on its activity as a transcriptional repressor. We used an unbiased proteomic approach to identify TBX3 interacting proteins in vivo and discovered that TBX3 interacts with multiple mRNA splicing factors and RNA metabolic proteins. We discovered that TBX3 regulates alternative splicing in vivo and can promote or inhibit splicing depending on context and transcript. TBX3 associates with alternatively spliced mRNAs and binds RNA directly. TBX3 binds RNAs containing TBX binding motifs, and these motifs are required for regulation of splicing. Our study reveals that TBX3 mutations seen in humans with UMS disrupt its splicing regulatory function. The pleiotropic effects of TBX3 mutations in humans and mice likely result from disrupting at least two molecular functions of this protein: transcriptional regulation and pre-mRNA splicing.

Indexed as

Abnormalities, MultipleAlternative SplicingAnimalsBreast DiseasesGene Expression Regulation, DevelopmentalHumansMiceMutationNervous System MalformationsProtein Interaction MapsProteomicsRNA, MessengerRNA PrecursorsT-Box Domain ProteinsUlnaRNA, MessengerRNA PrecursorsT-Box Domain ProteinsTBX3 protein, human

Identifiers

PMID24675841
PMCPMC3967948
OpenAlexW2010501288

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.