自閉症リスク変異から脳の遺伝子活動における2つの相反するパターンを解明（Autism-Risk Mutations Reveal Two Opposing Patterns of Brain Gene Activity）

2026-09-18 韓国基礎科学研究院（IBS）

Figure 1. Diverse autism-risk genes converge on two opposing molecular brain states

＜関連情報＞

• https://www.ibs.re.kr/cop/bbs/BBSMSTR_000000000738/selectBoardArticle.do?nttId=27029&pageIndex=1&searchCnd=&searchWrd=
• https://www.science.org/doi/10.1126/science.adz6688

自閉症リスク変異を有するマウスにおけるトランスクリプトームに基づく分類 Transcriptome-based classification in mice with ASD-risk mutations

Junyeop Daniel Roh, Yukyung Jun, Heesu Jeon, Junyoung Kim, […] , and Eunjoon Kim
Science  Published:17 Sep 2026
DOI:https://doi.org/10.1126/science.adz6688

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a strong genetic component. Large-scale human genetic studies have identified >1200 ASD-risk genes. We report a sex-balanced atlas of 1008 prefrontal RNA sequencing (RNA-seq) profiles from 17 mouse lines carrying ASD-risk mutations. Our analysis identified two opposing transcriptomic states. The two groups differed in sex bias, regional specificity, developmental stability, cell type remodeling, and responses to fluoxetine and lithium. Single-nucleus RNA-seq revealed broader cell type remodeling in group 1 than in group 2, and cell type–specific modules showed reciprocal associations that mirrored bulk transcriptomic signatures. The framework classifies independent mouse lines and identifies subgroups with conserved synaptic directionality, supporting molecular stratification.