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  • Nehme, RaldaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • 2022-06-27
  • Nature Publishing Group,2022
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-197784
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-197784URI
  • https://doi.org/10.1038/s41467-022-31436-8DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:150088878URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from deletion carriers and controls and utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Here, we show that upon differentiation into neural progenitor cells, the deletion acted in trans to alter the abundance of transcripts associated with risk for neurodevelopmental disorders including autism. In excitatory neurons, altered transcripts encoded presynaptic factors and were associated with genetic risk for schizophrenia, including common and rare variants. To understand how the deletion contributed to these changes, we defined the minimal protein-protein interaction network that best explains gene expression alterations. We found that many genes in 22q11.2 interact in presynaptic, proteasome, and JUN/FOS transcriptional pathways. Our findings suggest that the 22q11.2 deletion impacts genes that may converge with psychiatric risk loci to influence disease manifestation in each deletion carrier.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Pietiläinen, OlliStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Artomov, MykytaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States (author)
  • Tegtmeyer, MatthewStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Valakh, VeraStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Lehtonen, LeeviInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland (author)
  • Bell, ChristinaDepartment of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States (author)
  • Singh, TarjinderStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Trehan, AditiStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Sherwood, JohnStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Manning, DanielleStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Peirent, EmilyStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Malik, RheaDepartment of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Guss, Ellen J.Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Hawes, DerekStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Beccard, AmandaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Bara, Anne M.Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Hazelbaker, Dane Z.Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Zuccaro, EmanuelaDepartment of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Genovese, GiulioStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Loboda, Alexander A.Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; ITMO University, St. Petersburg, Russian Federation; Almazov National Medical Research Centre, Saint-Petersburg, Russian Federation (author)
  • Neumann, AnnaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Lilliehook, ChristinaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Kuismin, OutiPsychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland (author)
  • Hamalainen, EijaInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland (author)
  • Kurki, MitjaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States (author)
  • Hultman, Christina M.Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (author)
  • Kähler, Anna K.Karolinska Institutet (author)
  • Paulo, Joao A.Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States (author)
  • Ganna, AndreaStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Madison, JonStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Cohen, BruceDepartment of Psychiatry, McLean Hospital, MA, Belmont, United States (author)
  • McPhie, DonnaDepartment of Psychiatry, McLean Hospital, MA, Belmont, United States (author)
  • Adolfsson, RolfUmeå universitet,Psykiatri(Swepub:umu)road0001 (author)
  • Perlis, RoyPsychiatry Dept., Massachusetts General Hospital, MA, Boston, United States (author)
  • Dolmetsch, RicardoNovartis Institutes for Biomedical Research, Novartis, MA, Cambridge, United States (author)
  • Farhi, SamouilStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • McCarroll, StevenStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Hyman, StevenStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Neale, BenStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States (author)
  • Barrett, Lindy E.Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States (author)
  • Harper, WadeDepartment of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States (author)
  • Palotie, AarnoStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Neurology, Massachusetts General Hospital, MA, Boston, United States (author)
  • Daly, MarkStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Neurology, Massachusetts General Hospital, MA, Boston, United States (author)
  • Eggan, KevinStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States; BioMarin Pharmaceutical, CA, San Rafael, United States (author)
  • Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United StatesStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States (creator_code:org_t)

Related titles

  • In:Nature Communications: Nature Publishing Group13:12041-1723

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