Nature Communications (Jun 2022)
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
- Ralda Nehme,
- Olli Pietiläinen,
- Mykyta Artomov,
- Matthew Tegtmeyer,
- Vera Valakh,
- Leevi Lehtonen,
- Christina Bell,
- Tarjinder Singh,
- Aditi Trehan,
- John Sherwood,
- Danielle Manning,
- Emily Peirent,
- Rhea Malik,
- Ellen J. Guss,
- Derek Hawes,
- Amanda Beccard,
- Anne M. Bara,
- Dane Z. Hazelbaker,
- Emanuela Zuccaro,
- Giulio Genovese,
- Alexander A. Loboda,
- Anna Neumann,
- Christina Lilliehook,
- Outi Kuismin,
- Eija Hamalainen,
- Mitja Kurki,
- Christina M. Hultman,
- Anna K. Kähler,
- Joao A. Paulo,
- Andrea Ganna,
- Jon Madison,
- Bruce Cohen,
- Donna McPhie,
- Rolf Adolfsson,
- Roy Perlis,
- Ricardo Dolmetsch,
- Samouil Farhi,
- Steven McCarroll,
- Steven Hyman,
- Ben Neale,
- Lindy E. Barrett,
- Wade Harper,
- Aarno Palotie,
- Mark Daly,
- Kevin Eggan
Affiliations
- Ralda Nehme
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Olli Pietiläinen
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Mykyta Artomov
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Matthew Tegtmeyer
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Vera Valakh
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Leevi Lehtonen
- Institute for Molecular Medicine Finland, University of Helsinki
- Christina Bell
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School
- Tarjinder Singh
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Aditi Trehan
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- John Sherwood
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Danielle Manning
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Emily Peirent
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Rhea Malik
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University
- Ellen J. Guss
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University
- Derek Hawes
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Amanda Beccard
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Anne M. Bara
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Dane Z. Hazelbaker
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Emanuela Zuccaro
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University
- Giulio Genovese
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Alexander A. Loboda
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Anna Neumann
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Christina Lilliehook
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Outi Kuismin
- Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital
- Eija Hamalainen
- Institute for Molecular Medicine Finland, University of Helsinki
- Mitja Kurki
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Christina M. Hultman
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- Anna K. Kähler
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- Joao A. Paulo
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School
- Andrea Ganna
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Jon Madison
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Bruce Cohen
- Department of Psychiatry, McLean Hospital
- Donna McPhie
- Department of Psychiatry, McLean Hospital
- Rolf Adolfsson
- Umea University, Faculty of Medicine, Department of Clinical Sciences, Psychiatry
- Roy Perlis
- Psychiatry Dept., Massachusetts General Hospital
- Ricardo Dolmetsch
- Novartis Institutes for Biomedical Research, Novartis
- Samouil Farhi
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Steven McCarroll
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Steven Hyman
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Ben Neale
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Lindy E. Barrett
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Wade Harper
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School
- Aarno Palotie
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Mark Daly
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- Kevin Eggan
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT
- DOI
- https://doi.org/10.1038/s41467-022-31436-8
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 21
Abstract
How the 22q11.2 deletion predisposes to psychiatric disease is unclear. Here, the authors examine living human neuronal cells and show that 22q11.2 regulates the expression of genes linked to autism during early development, and genes linked to schizophrenia and synaptic biology in neurons.
