Evidence map›Paper›PMID 42320469›Full record

ArticleCell genomics2026

Single-cell profiling of DNA methylation in autism spectrum disorder prefrontal cortex reveals distinct regulatory and aging signatures.

Katherine W Eyring, Cuining Liu, Nasser Elhajjaoui, Kevin D Abuhanna, Yi Zhang, Zachary von Behren, Min Jen Tsai, Eleazar Eskin, Daniel H Geschwind, Chongyuan Luo

Abstract read
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Katherine W EyringDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Cuining LiuBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Nasser ElhajjaouiDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Kevin D AbuhannaDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Yi ZhangDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Zachary von BehrenDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Min Jen TsaiDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Eleazar EskinDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Computer Science, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Computational Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Daniel H GeschwindDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Institute for Precision Health, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: dhg@mednet.ucla.edu.
Chongyuan LuoBioinformatics Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: cluo@mednet.ucla.edu.

Funding

Spatiotemporal epigenomic and chromosomal architectural cell atlas of developing human brainsU01MH130995 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Chongyuan Luo, Mercedes Paredes · 2022 to 2026
$4.4M
SINGLE-CELL MULTI-OMIC APPROACHES TO MECHANISTICALLY CHARACTERIZE PSYCHIATRIC DISORDER RISK LOCI IN THE HUMAN BRAINR01MH125252 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LUO, CHONGYUAN · 2021 to 2025
$3.7M
NIMH NIH HHS R01 MH125252NIMH NIH HHS U01 MH130995
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition. Studies of postmortem ASD brain tissue have revealed convergent molecular changes across the cortex. Whether these features are reflected in cell-type-specific epigenetic signatures is unknown. Here, we present a single-cell analysis of DNA methylation (DNAm) coupled with transcriptomics in ASD. Using snmCT-seq, we profiled DNAm and transcript levels from over 60,000 nuclei derived from the prefrontal cortex of 49 donors. We identified over 30,000 differentially methylated regions (DMRs) in ASD that were enriched in promoters and cell-type-specific regulatory elements active across the lifespan. ASD-related methylation changes were uncorrelated with transcript levels and were small in magnitude compared with age-associated effects. Age-DMRs were concentrated in excitatory neurons and revealed distinct roles for CG and non-CG methylation. Age-varying methylation signatures of ASD identified neuron projection development as a key process perturbed in ASD, highlighting the heterogeneous impact of ASD across the lifespan.

Indexed as

AgingAutism Spectrum DisorderDNA MethylationPrefrontal CortexSingle-Cell AnalysisAdolescentAdultChildChild, PreschoolEpigenesis, GeneticFemaleHumansMaleNeuronsYoung AdultASDautismDNA methylationmulti-omicsneurodevelopmentneurosciencesingle-cell genomics

Identifiers

PMID42320469
PMCPMC13347942

What OpenQuestion holds

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LicenceCC BY-NC
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.