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◆ Nature2026-06-17· Neuroscience

Cortical development dynamics across autism spectrum disorder mouse models

Lena A. Schwarz, Christoph Dotter, Sergey Isaev, Michela Lisi, Daniel Malzl, Christoph Bueschl, Sabrina Ladstätter, Bárbara Oliveira, Matteo Barel, Bernadette Basilico, Chaitanya Chintaluri, Sarah Gorkiewicz, Mohammad Goudarzi, Tereza Bělinová, Stephan Reichl, Gintarė Sendžikaitė, Satish Arcot Jayaram, Peter Koppensteiner, Christoph Sommer, Tim P. Vogels, Jörg Menche, Igor Adameyko, Peter V. Kharchenko, Christoph Bock, Gaia Novarino

原始摘要(英文原文)· Original abstract
, phenotypic convergence across models may reveal common neurobiological processes in autism spectrum disorder (ASD). Here we profiled 251 samples from 11 monogenic mouse models of ASD using single-nucleus multi-omic sequencing across three developmental stages, both sexes and two brain regions. Despite genetic heterogeneity, ASD-linked mutations converged on perturbations of the radial glial cell lineage. These alterations reflect a transient developmental delay rather than lasting lineage misspecification and resolve by postnatal stages. Molecularly, the largest transcriptional differences emerged in neurons at early postnatal stages. These changes included downregulation of synaptic and ion channel-related genes, consistent with homeostatic adaptation or delayed maturation. Network analysis showed molecular convergence across models within each developmental stage, suggesting that diverse mutations linked to ASD impinge on common, stage-specific processes. Convergence becomes less pronounced by postnatal day 14, highlighting the dynamic nature of ASD-associated changes. Cross-genotype heterogeneity is superimposed on stage-specific effects. Electrophysiology corroborated this pattern: mutants generally showed altered neuronal excitability and synaptic properties with model-specific nuances. Our study also highlighted sex-specific gene expression alterations, with female mice often displaying larger effect sizes than male mice. Together, our findings provide a comprehensive view of developmental cellular and molecular dynamics across models of ASD.
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Cortical development dynamics across autism spectrum disorder mouse models — 科研速览 Science Skim