ArticleNature communications2020
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
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Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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56 citing papers in PubMed, 99 citations in OpenAlex.
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Authors and funding
38 authors at 10 institutions in 1 country.
Kensuke MatsumuraLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Kaoru SeirikiLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Shota OkadaLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Masashi NagaseInstitute of Clinical Medicine and Research, Jikei University School of Medicine, Kashiwa, Chiba, 277-8567, Japan.
Shinya AyabeExperimental Animal Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.ORCID http://orcid.org/0000-0003-2737-5315
Ikuko YamadaTechnology and Developmental Team for Mouse Phenotype Analysis, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.
Tamio FuruseTechnology and Developmental Team for Mouse Phenotype Analysis, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.
Hirotoshi ShibuyaTechnology and Developmental Team for Mouse Phenotype Analysis, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.
Yuka YasudaDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan.
Hidenaga YamamoriDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan.
Michiko FujimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan.
Kazuki NagayasuLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Kana YamamotoLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Kohei KitagawaLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Hiroki MiuraLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Nanaka Gotoda-NishimuraLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Hisato IgarashiLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Misuzu HayashidaLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Masayuki BabaLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Momoka KondoLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.
Shigeru HasebeDepartment of Pharmacology, Graduate School of Dentistry, Osaka University, Suita, Osaka, 565-0871, Japan.
Kosei UeshimaDepartment of Pharmacology, Graduate School of Dentistry, Osaka University, Suita, Osaka, 565-0871, Japan.
Atsushi KasaiLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0002-1612-3078
Yukio AgoLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0001-7562-4000
Atsuko Hayata-TakanoLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0002-4992-2845
Norihito ShintaniLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0002-7850-9064
Tokuichi IguchiDepartment of Anatomy and Neuroscience, Graduate School of Medicine, Osaka University, Suita, Osaka, 565-0871, Japan.
Makoto SatoDepartment of Anatomy and Neuroscience, Graduate School of Medicine, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0002-6805-8351
Shun YamaguchiDepartment of Morphological Neuroscience, Gifu University Graduate School of Medicine, Gifu, 501-1194, Japan.
Masaru TamuraTechnology and Developmental Team for Mouse Phenotype Analysis, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.ORCID http://orcid.org/0000-0002-0311-8827
Shigeharu WakanaTechnology and Developmental Team for Mouse Phenotype Analysis, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.
Atsushi YoshikiExperimental Animal Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, 305-0074, Japan.
Ayako M WatabeInstitute of Clinical Medicine and Research, Jikei University School of Medicine, Kashiwa, Chiba, 277-8567, Japan.ORCID http://orcid.org/0000-0002-6916-5757
Hideyuki OkanoDepartment of Physiology, Keio University School of Medicine, Shinjuku-ku, Tokyo, 160-8582, Japan.
Kazuhiro TakumaDepartment of Pharmacology, Graduate School of Dentistry, Osaka University, Suita, Osaka, 565-0871, Japan.ORCID http://orcid.org/0000-0001-6484-1122
Ryota HashimotoDepartment of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8553, Japan.
Hitoshi HashimotoLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan. hasimoto@phs.osaka-u.ac.jp.ORCID http://orcid.org/0000-0001-6548-4016
Takanobu NakazawaLaboratory of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka, 565-0871, Japan. takanobunakazawa-tky@umin.ac.jp.ORCID http://orcid.org/0000-0003-4863-1277
The University of Osaka · JPRIKEN BioResource Research Center · JPKanazawa University · JPNational Center of Neurology and Psychiatry · JPJikei University School of Medicine · JPGifu University · JPJapan Society for the Promotion of Science · JPKeio University · JPOsaka Gakuin University · JPOsaka University of Pharmaceutical Sciences · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains unknown. Here, we show that POGZ regulates neuronal development and that ASD-related de novo mutations impair neuronal development in the developing mouse brain and induced pluripotent cell lines from an ASD patient. We also develop the first mouse model heterozygous for a de novo POGZ mutation identified in a patient with ASD, and we identify ASD-like abnormalities in the mice. Importantly, social deficits can be treated by compensatory inhibition of elevated cell excitability in the mice. Our results provide insight into how de novo mutations on high-confidence ASD genes lead to impaired mature cortical network function, which underlies the cellular pathogenesis of NDDs, including ASD.
Indexed as
MutationPhenotypeAdolescentAnimalsAutistic DisorderBehavior, AnimalBrainCell Cycle ProteinsCell DifferentiationCell LineCell ProliferationDNA-Binding ProteinsFemaleGene EditingGene Knockdown TechniquesGenetic Predisposition to DiseaseCell Cycle ProteinsDNA-Binding ProteinsPOGZ protein, humanTransposases
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