Science
 2019
DOI: 10.1126/science.aav8130
|Get access via publisher |Summarize |Cite
|
Sign up to set email alerts

Single-cell genomics identifies cell type–specific molecular changes in autism

Dmitry Velmeshev
1
,
Lucas Schirmer
2
,
Diane Jung
3
et al.

Abstract: Despite the clinical and genetic heterogeneity of autism, bulk gene expression studies show that changes in the neocortex of autism patients converge on common genes and pathways. However, direct assessment of specific cell types in the brain affected by autism has not been feasible until recently. We used single-nucleus RNA sequencing of cortical tissue from patients with autism to identify autism-associated transcriptomic changes in specific cell types. We found that synaptic signaling of upper-layer excitat… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
752
172
152
127

Citation Types

120
1,149
1
5

Year Published

2019
2019
2026
2026

Publication Types

Select...
629
254
133
24

Relationship

19
1,021

Authors

Journals

citations

Cited by 989 publications

(1,276 citation statements)
references

References 25 publications

120
1,149
1
5
Order By: Relevance
“…No eQTL survived multiple testing correction in astrocyte CG data. This was consistent with a previous result, which reported that neurons express more genes and transcripts than do glia 18 . We annotated the genomic regions for eSNPs with Ensembl annotations using ANNOVAR software 29 .…”
Section: Resultssupporting
confidence: 94%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
show abstract
“…No eQTL survived multiple testing correction in astrocyte CG data. This was consistent with a previous result, which reported that neurons express more genes and transcripts than do glia 18 . We annotated the genomic regions for eSNPs with Ensembl annotations using ANNOVAR software 29 .…”
Section: Resultssupporting
confidence: 94%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
show abstract
“…We next perform cell composition analysis to determine if any cell types are reduced or more abundant in the ASD cortex compared to controls (see Methods). In agreement with previous analysis (13,34,35), we detect a slight, but significant, increase in reactive forms of astrocytes and microglia. While previous analyses were limited in sample size and testing methods, our larger dataset affords a higher resolution: we specifically observe an increase in reactive astrocytes (ASTRO1), reactive microglia (MG2) and a trend for an increase in MG3, as well as OPCs (OPCS1 and OPCS3; Fig.…”
Section: Resultssupporting
confidence: 93%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
show abstract
“…We next performed cell composition analysis to determine whether any cell types were reduced or more abundant in the ASD cortex compared with controls (see methods). In agreement with previous analysis ( 13 , 32 , 33 ), we detected a small but significant increase in reactive forms of microglia ( P = 0.04) and a similar trend in astrocytes ( P = 0.10) (Fig. 1F and table S2, A and B).…”
Section: Resultssupporting
confidence: 93%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
show abstract
scite logo

Scite is an AI-powered platform that helps researchers discover and evaluate scientific literature through Smart Citations, showing whether studies support or contradict a claim. Now part of Research Solutions, Scite has indexed 1.6B+ citations, partners with 30+ publishers, and serves 2M users worldwide.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Status

Copyright © 2026 Scite LLC. All rights reserved.

Made with 💙 for researchers

Part of the Research Solutions Family.

Research Solutions Logo