Evidence map›Paper›PMID 32610082›Full record

ArticleCell2020

A Chromatin Accessibility Atlas of the Developing Human Telencephalon.

Eirene Markenscoff-Papadimitriou, Sean Whalen, Pawel Przytycki, Reuben Thomas, Fadya Binyameen, Tomasz J Nowakowski, Arnold R Kriegstein, Stephan J Sanders, Matthew W State, Katherine S Pollard and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed
6.0field-weighted citation impact, top 3% 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

65 citing papers in PubMed, 105 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025
    Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. A practical guide to sequencing in neuropsychiatric research.NPP - digital psychiatry and neuroscience · 2025
    Review
  14. Article
  15. Using Callus as an Ex Vivo System for Chromatin Analysis.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  16. Review
  17. Article
  18. Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  19. Article
  20. Article

5 more citing papers are in PubMed but not listed here.

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 3 institutions in 1 country.

Eirene Markenscoff-PapadimitriouDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Sean WhalenGladstone Institutes, San Francisco, CA, USA.
Pawel PrzytyckiGladstone Institutes, San Francisco, CA, USA.
Reuben ThomasGladstone Institutes, San Francisco, CA, USA.
Fadya BinyameenDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Tomasz J NowakowskiDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Chan-Zuckerberg Biohub, San Francisco, CA, USA; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.
Arnold R KriegsteinDepartment of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Stephan J SandersDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, CA, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Matthew W StateDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Katherine S PollardGladstone Institutes, San Francisco, CA, USA; Chan-Zuckerberg Biohub, San Francisco, CA, USA; Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, CA, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA; Quantitative Biology Institute, University of California, San Francisco, San Francisco, CA, USA. Electronic address: katherine.pollard@gladstone.ucsf.edu.
John L RubensteinDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. Electronic address: john.rubenstein@ucsf.edu.
University of California, San Francisco · USGladstone Institutes · USQB3 · US

Funding

Development and Expansion of the Human Cerebral CortexR35NS097305 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KRIEGSTEIN, ARNOLD · 2017 to 2024
$8.5M
A Cellular Resolution Census of the Developing Human BrainU01MH114825 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HUANG, ERIC J, KRIEGSTEIN, ARNOLD · 2017 to 2021
$6.7M
Genetic Studies of Cortex Structure and DevelopmentR01NS099099 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 2016 to 2025
$6.4M
STRUCTURE, EXPRESSION &FUNCTION OF THE DLX GENE FAMILYR01MH049428 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 1992 to 2022
$5.8M
Mapping the Developing Human Neocortex by Massively Parallel Single Cell AnalysisU01MH105989 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KRIEGSTEIN, ARNOLD · 2014 to 2016
$5.1M
Massively parallel dissection of psychiatric regulatory networksR01MH109907 · NIMH · J. DAVID GLADSTONE INSTITUTES · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2016 to 2020
$3.4M
Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell typesU01MH116438 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2018 to 2021
$2.7M
Resolving single-cell brain regulatory elements with bulk data supervised modelsR01MH123178 · NIMH · J. DAVID GLADSTONE INSTITUTES · PI POLLARD, KATHERINE S. · 2020 to 2023
$2.4M
Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell typesR01MH116438 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, POLLARD, KATHERINE S. · 2022 to 2022
$668k
NIMH NIH HHS R01 MH049428NIMH NIH HHS R01 MH109907NIMH NIH HHS R01 MH116438NIMH NIH HHS R01 MH123178NIMH NIH HHS U01 MH105989NIMH NIH HHS U01 MH114825NIMH NIH HHS U01 MH116438NINDS NIH HHS R01 NS099099NINDS NIH HHS R35 NS097305
6 · The paper itself

Abstract

To discover regulatory elements driving the specificity of gene expression in different cell types and regions of the developing human brain, we generated an atlas of open chromatin from nine dissected regions of the mid-gestation human telencephalon, as well as microdissected upper and deep layers of the prefrontal cortex. We identified a subset of open chromatin regions (OCRs), termed predicted regulatory elements (pREs), that are likely to function as developmental brain enhancers. pREs showed temporal, regional, and laminar differences in chromatin accessibility and were correlated with gene expression differences across regions and gestational ages. We identified two functional de novo variants in a pRE for autism risk gene SLC6A1, and using CRISPRa, demonstrated that this pRE regulates SCL6A1. Additionally, mouse transgenic experiments validated enhancer activity for pREs proximal to FEZF2 and BCL11A. Thus, this atlas serves as a resource for decoding neurodevelopmental gene regulation in health and disease.

Indexed as

Enhancer Elements, GeneticAnimalsAutistic DisorderCell LineChromatinChromatin Immunoprecipitation SequencingEuchromatinGABA Plasma Membrane Transport ProteinsGene Expression Regulation, DevelopmentalGene OntologyGenetic Predisposition to DiseaseGestational AgeHumansMiceMice, TransgenicNucleotide MotifsBCL11A protein, humanChromatinEuchromatinFEZF2 protein, humanGABA Plasma Membrane Transport ProteinsRepressor ProteinsSLC6A1 protein, humanTranscription FactorsATAC-seqautismchromatinenhancersgene regulationmachine learningneurodevelopmentneuropsychiatric disorders

Identifiers

PMID32610082
PMCPMC7415678
OpenAlexW3040310206

What OpenQuestion holds

Textmetadata
LicenceTDM
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.