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

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Jung, Diane 
Haeussler, Maximilian  ORCID logo  https://orcid.org/0000-0001-8721-8253
Perez, Yonatan 

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 excitatory neurons and the molecular state of microglia are preferentially affected in autism. Moreover, our results show that dysregulation of specific groups of genes in cortico-cortical projection neurons correlates with clinical severity of autism. These findings suggest that molecular changes in upper-layer cortical circuits are linked to behavioral manifestations of autism.

Description

Keywords

Adolescent, Autistic Disorder, Cell Nucleus, Child, Child, Preschool, Female, Gene Expression Profiling, Gene Expression Regulation, Genomics, Humans, Male, Microglia, Neocortex, Neurons, Sequence Analysis, RNA, Single-Cell Analysis, Young Adult

Journal Title

Science

Conference Name

Journal ISSN

0036-8075
1095-9203

Volume Title

364

Publisher

American Association for the Advancement of Science (AAAS)

Rights

All rights reserved
Sponsorship
Medical Research Council (MC_PC_12009)