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Transcriptome-based classification in mice with ASD-risk mutations.

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Title: Transcriptome-based classification in mice with ASD-risk mutations.
Authors: Roh JD; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Jun Y; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea., Jeon H; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Yi Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim M; Department of Brain and Cognitive Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Cho H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Oh Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Moon H; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim J; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim S; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Ryu J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kang M; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim J; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Kim Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Jung Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea., Yoo T; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Oh H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim H; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Jin C; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Yang Y; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea., Choi G; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea., Ahn S; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea., Kim JY; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea., Kang H; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea., Bae M; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea., Kim E; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.
Source: Science (New York, N.Y.) [Science] 2026 Sep 17; Vol. 393 (6817), pp. 1250-1257. Date of Electronic Publication: 2026 Sep 17.
Publication Type: Journal Article
Language: English
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Imprint Name(s): Publication: : Washington, DC : American Association for the Advancement of Science
Original Publication: New York, N.Y. : [s.n.] 1880-
MeSH Terms: Autism Spectrum Disorder*/genetics , Single-Cell Gene Expression Analysis*/classification , Transcriptome*, Fluoxetine/pharmacology ; Prefrontal Cortex/metabolism ; Prefrontal Cortex/cytology ; Animals ; Female ; Male ; Mice ; Disease Models, Animal ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Mutation ; RNA-Seq ; Atlases as Topic ; Animals, Genetically Modified ; Mice, Mutant Strains
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.
Comments: Comment in: Science. 2026 Sep 17;393(6817):1188-1189. doi: 10.1126/science.ael3062.. (PMID: 42752156)
Substance Nomenclature: 01K63SUP8D (Fluoxetine)
Entry Date(s): Date Created: 20260917 Date Completed: 20260917 Latest Revision: 20260921
Update Code: 20260921
DOI: 10.1126/science.adz6688
PMID: 42752124
Database: MEDLINE
FullText Text:
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DbLabel: MEDLINE
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Transcriptome-based classification in mice with ASD-risk mutations.
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  Data: <searchLink fieldCode="AU" term="%22Roh+JD%22">Roh JD</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Jun+Y%22">Jun Y</searchLink>; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Jeon+H%22">Jeon H</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Yi+Y%22">Yi Y</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+M%22">Kim M</searchLink>; Department of Brain and Cognitive Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Cho+H%22">Cho H</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Oh+Y%22">Oh Y</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Moon+H%22">Moon H</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+J%22">Ryu J</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kang+M%22">Kang M</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+Y%22">Kim Y</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Jung+Y%22">Jung Y</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Yoo+T%22">Yoo T</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Oh+H%22">Oh H</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+H%22">Kim H</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Jin+C%22">Jin C</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea.<br /><searchLink fieldCode="AU" term="%22Choi+G%22">Choi G</searchLink>; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Ahn+S%22">Ahn S</searchLink>; Therapeutics and Biotechnology Division, Korea Research Institute of Chemical Technology (KRICT), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+JY%22">Kim JY</searchLink>; Digital Omics Research Center, Korea Basic Science Institute (KBSI), Cheongju, Chungbuk, Korea.<br /><searchLink fieldCode="AU" term="%22Kang+H%22">Kang H</searchLink>; Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Bae+M%22">Bae M</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+E%22">Kim E</searchLink>; Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, Korea.; Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Korea.
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  Data: <searchLink fieldCode="JN" term="%220404511%22">Science (New York, N.Y.)</searchLink> [Science] 2026 Sep 17; Vol. 393 (6817), pp. 1250-1257. <i>Date of Electronic Publication: </i>2026 Sep 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Association+for+the+Advancement+of+Science%22">American Association for the Advancement of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0404511 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1095-9203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200368075%22">00368075 </searchLink><i>NLM ISO Abbreviation: </i>Science <i>Subsets: </i>MEDLINE
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  Data: <i>Publication</i>: <Oct. 4, 1991- > : Washington, DC : American Association for the Advancement of Science<br /><i>Original Publication</i>: New York, N.Y. : [s.n.] 1880-
– Name: SubjectMESH
  Label: MeSH Terms
  Group: Su
  Data: <searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder%22">Autism Spectrum Disorder*</searchLink>/<searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Single-Cell+Gene+Expression+Analysis%22">Single-Cell Gene Expression Analysis*</searchLink>/<searchLink fieldCode="MM" term="%22Single-Cell+Gene+Expression+Analysis+classification%22">classification</searchLink> <br /><searchLink fieldCode="MM" term="%22Transcriptome%22">Transcriptome*</searchLink><br /><searchLink fieldCode="MH" term="%22Fluoxetine%22">Fluoxetine</searchLink>/<searchLink fieldCode="MH" term="%22Fluoxetine+pharmacology%22">pharmacology</searchLink> ; <searchLink fieldCode="MH" term="%22Prefrontal+Cortex%22">Prefrontal Cortex</searchLink>/<searchLink fieldCode="MH" term="%22Prefrontal+Cortex+metabolism%22">metabolism</searchLink> ; <searchLink fieldCode="MH" term="%22Prefrontal+Cortex%22">Prefrontal Cortex</searchLink>/<searchLink fieldCode="MH" term="%22Prefrontal+Cortex+cytology%22">cytology</searchLink> ; <searchLink fieldCode="MH" term="%22Animals%22">Animals</searchLink> ; <searchLink fieldCode="MH" term="%22Female%22">Female</searchLink> ; <searchLink fieldCode="MH" term="%22Male%22">Male</searchLink> ; <searchLink fieldCode="MH" term="%22Mice%22">Mice</searchLink> ; <searchLink fieldCode="MH" term="%22Disease+Models%2C+Animal%22">Disease Models, Animal</searchLink> ; <searchLink fieldCode="MH" term="%22Gene+Expression+Profiling%22">Gene Expression Profiling</searchLink> ; <searchLink fieldCode="MH" term="%22Genetic+Predisposition+to+Disease%22">Genetic Predisposition to Disease</searchLink> ; <searchLink fieldCode="MH" term="%22Mutation%22">Mutation</searchLink> ; <searchLink fieldCode="MH" term="%22RNA-Seq%22">RNA-Seq</searchLink> ; <searchLink fieldCode="MH" term="%22Atlases+as+Topic%22">Atlases as Topic</searchLink> ; <searchLink fieldCode="MH" term="%22Animals%2C+Genetically+Modified%22">Animals, Genetically Modified</searchLink> ; <searchLink fieldCode="MH" term="%22Mice%2C+Mutant+Strains%22">Mice, Mutant Strains</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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.
– Name: Comment
  Label: Comments
  Group: Commnt
  Data: Comment in: Science. 2026 Sep 17;393(6817):1188-1189. doi: 10.1126/science.ael3062.. (PMID: <searchLink fieldCode="PM" term="%2242752156%22">42752156)</searchLink>
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  Data: 01K63SUP8D (Fluoxetine)
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  Data: <i>Date Created: </i>20260917 <i>Date Completed: </i>20260917 <i>Latest Revision: </i>20260921
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  Data: 10.1126/science.adz6688
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PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=cmedm&AN=42752124
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        Text: English
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        StartPage: 1250
    Subjects:
      – SubjectFull: Fluoxetine pharmacology
        Type: general
      – SubjectFull: Prefrontal Cortex metabolism
        Type: general
      – SubjectFull: Prefrontal Cortex cytology
        Type: general
      – SubjectFull: Animals
        Type: general
      – SubjectFull: Female
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      – SubjectFull: Male
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      – SubjectFull: Mice
        Type: general
      – SubjectFull: Disease Models, Animal
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      – SubjectFull: Gene Expression Profiling
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      – SubjectFull: Genetic Predisposition to Disease
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      – SubjectFull: Autism Spectrum Disorder genetics
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              Text: 2026 Sep 17
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