Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.

Cyclic AMP / metabolism Cyclic AMP-Dependent Protein Kinases / metabolism Histone-Lysine N-Methyltransferase / genetics Humans Induced Pluripotent Stem Cells / metabolism Neurons / metabolism Schizophrenia / genetics
CP: Neuroscience PKA SETD1A cAMP hiPSC human neurons microelectrode array network activity schizophrenia

Journal

Cell reports
ISSN: 2211-1247
Titre abrégé: Cell Rep
Pays: United States
ID NLM: 101573691

Informations de publication

Date de publication:
03 05 2022
Historique:
received: 27 09 2021
revised: 20 02 2022
accepted: 15 04 2022
entrez: 4 5 2022
pubmed: 5 5 2022
medline: 7 5 2022
Statut: ppublish

Résumé

Heterozygous loss-of-function (LoF) mutations in SETD1A, which encodes a subunit of histone H3 lysine 4 methyltransferase, cause a neurodevelopmental syndrome and increase the risk for schizophrenia. Using CRISPR-Cas9, we generate excitatory/inhibitory neuronal networks from human induced pluripotent stem cells with a SETD1A heterozygous LoF mutation (SETD1A

Identifiants

DOI: 10.1016/j.celrep.2022.110790 PMID: 35508131
pubmed: 35508131
pii: S2211-1247(22)00557-5
doi: 10.1016/j.celrep.2022.110790
pii:
doi:

Substances chimiques

Cyclic AMP E0399OZS9N
Histone-Lysine N-Methyltransferase EC 2.1.1.43
Setd1A protein, human EC 2.1.1.43
Cyclic AMP-Dependent Protein Kinases EC 2.7.11.11

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

110790

Informations de copyright

Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests The authors declare no competing interests.

Auteurs

Shan Wang (S)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands.

Jon-Ruben van Rhijn (JV)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands.

Ibrahim Akkouh (I)

Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway; NORMENT, Institute of Clinical Medicine, University of Oslo, 0372 Oslo, Norway.

Naoki Kogo (N)

Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands; Department of Biophysics, Donders Institute for Brain Cognition and Behaviour, 6525 AJ Nijmegen, the Netherlands.

Nadine Maas (N)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands.

Anna Bleeck (A)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands.

Irene Santisteban Ortiz (IS)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands.

Elly Lewerissa (E)

Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Ka Man Wu (KM)

Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Chantal Schoenmaker (C)

Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Srdjan Djurovic (S)

Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway; NORMENT, Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

Hans van Bokhoven (H)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Tjitske Kleefstra (T)

Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Nael Nadif Kasri (N)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6500 HB Nijmegen, the Netherlands.

Dirk Schubert (D)

Department of Cognitive Neurosciences, Radboudumc, Donders Institute for Brain Cognition and Behaviour, 6525 HR Nijmegen, the Netherlands. Electronic address: d.schubert@donders.ru.nl.

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Classifications MeSH

questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Ribonucléotides › Nucléotides adényliques › AMP cyclique › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Cyclic Nucleotide-Regulated Protein Kinases › Cyclic AMP-Dependent Protein Kinases › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › One-carbon group transferases › Methyltransferases › Protein Methyltransferases › Histone méthyltransférases › Histone-lysine N-methyltransferase › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Cellules › Neurones › Loss-of-function variants in the schizophrenia...
questionsmedicales.fr › Troubles mentaux › Schizophrénie et troubles avec traits psychotiques › Schizophrénie › Loss-of-function variants in the schizophrenia...