Evidence map›Paper›PMID 27260404›Full record

ArticleHuman molecular genetics2016

ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.

Stefano Berto, Noriyoshi Usui, Genevieve Konopka, Brent L Fogel

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 10% 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

52 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.

  1. Pooled it
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  16. Impact of interaction between individual genomes and preeclampsia on the severity of autism spectrum disorder symptoms.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024
    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

4 authors at 2 institutions in 1 country.

Stefano BertoDepartment of Neuroscience, University of Texas Southwestern Medical School, 5323 Harry Hines Blvd, ND4.300, Dallas, TX 75390-9111, USA.
Noriyoshi UsuiDepartment of Neuroscience, University of Texas Southwestern Medical School, 5323 Harry Hines Blvd, ND4.300, Dallas, TX 75390-9111, USA.
Genevieve KonopkaDepartment of Neuroscience, University of Texas Southwestern Medical School, 5323 Harry Hines Blvd, ND4.300, Dallas, TX 75390-9111, USA Genevieve.Konopka@utsouthwestern.edu bfogel@ucla.edu.
Brent L FogelProgram in Neurogenetics and Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Gonda Room 1206, Los Angeles, CA 90095, USA Genevieve.Konopka@utsouthwestern.edu bfogel@ucla.edu.
The University of Texas Southwestern Medical Center · USUniversity of California, Los Angeles · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
The role of Foxp1-regulated signaling pathways in brain development and behaviorR01MH102603 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2015 to 2019
$2.2M
Rare and Novel Genetic Variation in the Pathogenesis of Cerebellar AtaxiaR01NS082094 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FOGEL, BRENT LINDEN · 2013 to 2017
$1.7M
FOXP2-Regulated Signaling Pathways Critical for Higher Cognitive FunctionsR00MH090238 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2011 to 2013
$856k
The Role of Fox-1 in Neurodevelopment and Autistic Spectrum DisorderK08MH086297 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FOGEL, BRENT LINDEN · 2009 to 2013
$719k
Identification of human-relevant CLOCK molecular signaling pathwaysR21MH107672 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2015 to 2016
$445k
NCATS NIH HHS UL1 TR000124NIMH NIH HHS K08 MH086297NIMH NIH HHS R00 MH090238NIMH NIH HHS R01 MH102603NIMH NIH HHS R21 MH107672NINDS NIH HHS R01 NS082094
6 · The paper itself

Abstract

The role of post-transcriptional gene regulation in human brain development and neurodevelopmental disorders remains mostly uncharacterized. ELAV-like RNA-binding proteins (RNAbps) are a family of proteins that regulate several aspects of neuronal function including neuronal excitability and synaptic transmission, both critical to the normal function of the brain in cognition and behavior. Here, we identify the downstream neuronal transcriptional and splicing networks of ELAVL2, an RNAbp with previously unknown function in the brain. Expression of ELAVL2 was reduced in human neurons and RNA-sequencing was utilized to identify networks of differentially expressed and alternatively spliced genes resulting from haploinsufficient levels of ELAVL2. These networks contain a number of autism-relevant genes as well as previously identified targets of other important RNAbps implicated in autism spectrum disorder (ASD) including RBFOX1 and FMRP. ELAVL2-regulated co-expression networks are also enriched for neurodevelopmental and synaptic genes, and include genes with human-specific patterns of expression in the frontal pole. Together, these data suggest that ELAVL2 regulation of transcript expression is critical for neuronal function and clinically relevant to ASD.

Indexed as

Autism Spectrum DisorderBrainCell LineELAV-Like Protein 2Fragile X Messenger Ribonucleoprotein 1Gene Expression Regulation, DevelopmentalGene Regulatory NetworksHigh-Throughput Nucleotide SequencingHumansNeuronsRNA SplicingRNA Splicing FactorsELAVL2 protein, humanELAV-Like Protein 2FMR1 protein, humanFragile X Messenger Ribonucleoprotein 1RBFOX1 protein, humanRNA Splicing Factors

Identifiers

PMID27260404
PMCPMC6086562
OpenAlexW2411092329

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.