Evidence map›Paper›PMID 38850535›Full record

ArticleCell reports2024

Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.

Siavash Fazel Darbandi, Joon-Yong An, Kenneth Lim, Nicholas F Page, Lindsay Liang, David M Young, Athena R Ypsilanti, Matthew W State, Alex S Nord, Stephan J Sanders and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2024. 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
–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

19 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025
    Article
  7. Article
  8. Article
  9. Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Annual review of genomics and human genetics · 2025
    Review
  10. Review
  11. Review
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
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  18. Article
  19. Review
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.

Siavash Fazel DarbandiNina Ireland Laboratory of Developmental Neurobiology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Joon-Yong AnSchool of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, South Korea; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, South Korea.
Kenneth LimNina Ireland Laboratory of Developmental Neurobiology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Nicholas F PageDepartment of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Lindsay LiangDepartment of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
David M YoungDepartment of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Athena R YpsilantiNina Ireland Laboratory of Developmental Neurobiology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Matthew W StateDepartment of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA.
Alex S NordDepartment of Neurobiology, Physiology, and Behavior and Department of Psychiatry and Behavioral Sciences, Center for Neuroscience, University of California, Davis, Davis, CA 95618, USA.
Stephan J SandersDepartment of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA; Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA; Institute for Developmental and Regenerative Medicine, Old Road Campus, Roosevelt Dr., Headington, Oxford OX3 7TY, UK. Electronic address: stephan.sanders@paediatrics.ox.ac.uk.
John L R RubensteinNina Ireland Laboratory of Developmental Neurobiology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Psychiatry and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: john.rubenstein@ucsf.edu.

Funding

The Psychiatric Cell Map Initiative: Connecting Genomics, Subcellular Networks, and Higher Order PhenotypesU01MH115747 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAMPMANN, MARTIN, KROGAN, NEVAN J · 2018 to 2022
$19.6M
Genetic Studies of Cortex Structure and DevelopmentR01NS099099 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 2016 to 2025
$6.4M
Functional Elucidation of the Sequence-Encoded Regulatory Activity of Enhancers in Vivo in the BrainR35GM119831 · NIGMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Alexander Nord · 2016 to 2026
$3.9M
Assessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum DisorderR01MH125516 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ARNOLD KRIEGSTEIN, Tomasz Nowakowski · 2021 to 2026
$3.8M
2/2 - Cell Type and Region-Specific Regulatory Networks in Human Brain Development and DisordersU01MH116487 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2018 to 2022
$2.3M
Causal biology of Chd8 haploinsufficiency in complex brain disordersR01MH120513 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI NORD, ALEXANDER · 2019 to 2023
$2.3M
4/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129751 · NIMH · UNIVERSITY OF OXFORD · PI Stephan Sanders · 2022 to 2026
$1.4M
2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentR01MH122681 · NIMH · UNIVERSITY OF OXFORD · PI SANDERS, STEPHAN · 2023 to 2025
$1.3M
2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentU01MH122681 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN · 2021 to 2022
$1.2M
NIGMS NIH HHS R35 GM119831NIMH NIH HHS R01 MH120513NIMH NIH HHS R01 MH122681NIMH NIH HHS R01 MH125516NIMH NIH HHS R01 MH129751NIMH NIH HHS U01 MH115747NIMH NIH HHS U01 MH116487NIMH NIH HHS U01 MH122681NINDS NIH HHS R01 NS099099
6 · The paper itself

Abstract

Many autism spectrum disorder (ASD)-associated genes act as transcriptional regulators (TRs). Chromatin immunoprecipitation sequencing (ChIP-seq) was used to identify the regulatory targets of ARID1B, BCL11A, FOXP1, TBR1, and TCF7L2, ASD-associated TRs in the developing human and mouse cortex. These TRs shared substantial overlap in the binding sites, especially within open chromatin. The overlap within a promoter region, 1-2,000 bp upstream of the transcription start site, was highly predictive of brain-expressed genes. This signature was observed in 96 out of 102 ASD-associated genes. In vitro CRISPRi against ARID1B and TBR1 delineated downstream convergent biology in mouse cortical cultures. After 8 days, NeuN+ and CALB+ cells were decreased, GFAP+ cells were increased, and transcriptomic signatures correlated with the postmortem brain samples from individuals with ASD. We suggest that functional convergence across five ASD-associated TRs leads to shared neurodevelopmental outcomes of haploinsufficient disruption.

Indexed as

BrainAnimalsAutism Spectrum DisorderAutistic DisorderGene Expression RegulationGenetic LociHumansMiceTranscription FactorsTranscription Factorsautism spectrum disorderchromatinconvergenceCP: GenomicsCP: NeuroscienceCRISPRigenomicshaploinsufficient disordershuman fetal developmentmouse brain developmenttranscriptional regulators

Identifiers

PMID38850535
PMCPMC11235582

What OpenQuestion holds

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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.