ArticleNature communications2019
In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39citing papers in PubMed
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39 citing papers in PubMed, 55 citations in OpenAlex.
- Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.Journal of human genetics · 2026Article
- Glutamate carboxypeptidase II activation in astrocytes mediates glymphatic impairment and cognitive vulnerability in the aging brain following surgery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Advances and clinical potential of epigenome editing.Cellular and molecular life sciences : CMLS · 2026Review
- R-loop landscapes in the developing human brain are linked to neural differentiation and cell type-specific transcription.Translational psychiatry · 2026Article
- The Many Faces of SetDB1.Epigenomes · 2026Review
- Cytomegalovirus-encoded immediate early 1 protein perturbs neural progenitor proliferation via interfering with host PML-DISC1 interaction.The Journal of biological chemistry · 2026Article
- Diverse and location-specific roles of PlexinA2, PlexinA4, and NCAM in developing hippocampal mossy fibers.Translational psychiatry · 2026Article
- Deciphering the shared genetic architecture between female reproductive disorders and psychiatric disorders.Journal of ovarian research · 2026Article
- Epigenome editing based treatment: Progresses and challenges.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Review
- Epigenetic Editing in Neurological and Neuropsychiatric Disorders: Pioneering Next-Gen Therapeutics for Precision Gene Control.Molecular neurobiology · 2025Review
- Identification of Neurotrophic Factor Related Biomarkers and Mechanistic Insights into Neuropathic Pain via Integrated Bioinformatics Analysis.ACS omega · 2025Article
- Single-base mJournal of virology · 2025Article
- Unveiling the clinical and genetic impact of neuropsychiatric involvement in systemic lupus erythematosus.RMD open · 2025Article
- Early postnatal expression mitigates immune responses to Cas9 in the murine central nervous system.Molecular therapy. Methods & clinical development · 2025Article
- DISC1-PML protein interaction for congenital CMV infection-induced cortical neural progenitor deficit: perturbance of host signaling via viral IE1.bioRxiv : the preprint server for biology · 2025Article
- Epigenome Engineering Using dCas Systems for Biomedical Applications and Biotechnology: Current Achievements, Opportunities and Challenges.International journal of molecular sciences · 2025Review
- The Promise of Epigenetic Editing for Treating Brain Disorders.Sub-cellular biochemistry · 2025Review
- Comparative ethical evaluation of epigenome editing and genome editing in medicine: first steps and future directions.Journal of medical ethics · 2024Article
- SETDB1 as a cancer target: challenges and perspectives in drug design.RSC medicinal chemistry · 2024Review
- One form and two functions: MBD of SETDB2 is a protein-interacting domain.Structure (London, England : 1993) · 2024Article
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Authors and funding
19 authors at 6 institutions in 1 country.
Cyril J PeterFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0001-9190-8724
Atsushi SaitoDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Yuto HasegawaDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Yuya TanakaDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Mohika NagpalDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Gabriel PerezDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Emily AlwayDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.ORCID http://orcid.org/0000-0003-2524-7539
Sergio Espeso-GilFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0001-9145-3870
Tariq FayyadFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Chana RatnerFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Aslihan DincerFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0002-4971-1597
Achla GuptaFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Lakshmi DeviFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
John G PappasDepartment of Pediatrics, New York University School of Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0001-5625-2598
François M LalondeHuman Genetics Branch, National Institute of Mental Health, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0002-4945-0032
John A ButmanDiagnostic Radiology Department, The Clinical Center of the National Institutes of Health, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0002-1547-9195
Joan C HanUnit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD, 20892, USA.
Schahram AkbarianFriedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. schahram.akbarian@mssm.edu.ORCID http://orcid.org/0000-0001-7700-0891
Atsushi KamiyaDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. akamiya1@jhmi.edu.
Allen Institute for Brain Science · USJohns Hopkins University · USNational Institute of Mental Health · USNational Institutes of Health Clinical Center · USNew York University · USUniversity of Tennessee Health Science Center · US
Funding
Project 3P50MH094268 · NIMH · JOHNS HOPKINS UNIVERSITY · PI SAWA, AKIRA · 2011 to 2020
$19.9MMolecular mechanism of astrocytic vulnerability to adolescent cannabis useR01DA041208 · NIDA · JOHNS HOPKINS UNIVERSITY · PI KAMIYA, ATSUSHI, PLETNIKOV, MIKHAIL V · 2016 to 2020
$2.9MNeurodevelopmental Phenotypes in MLL mutant miceR01MH104341 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM · 2015 to 2019
$2.1MEpigenomic Regulation of a Large, Neuron-specific Chromatin DomainR01MH117790 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM · 2018 to 2022
$2.1MDISC1 Pathway in Dendritogenesis: Implications for Dopamine Circuit and CognitionR01MH091230 · NIMH · JOHNS HOPKINS UNIVERSITY · PI KAMIYA, ATSUSHI · 2010 to 2014
$1.6MNeuroendocrine Regulation of Metabolism and NeurocognitionZIAHD008898 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI HAN, JOAN C. · 2010 to 2014
$1.4MZeiss LSM780 Confocal Microscope for a Core FacilityS10OD016374 · OD · JOHNS HOPKINS UNIVERSITY · PI KUO, SCOT CHARLES · 2013 to 2013
$584kExploring depressive behavior using a natural product for novel drug targetsR21AT008547 · NCCIH · JOHNS HOPKINS UNIVERSITY · PI KAMIYA, ATSUSHI · 2014 to 2015
$439kIntramural NIH HHS ZIA HD008898NCCIH NIH HHS R21 AT008547NIDA NIH HHS R01 DA041208NIH HHS S10 OD016374NIMH NIH HHS P50 MH094268NIMH NIH HHS R01 MH091230NIMH NIH HHS R01 MH104341NIMH NIH HHS R01 MH117790
Abstract
Many neuropsychiatric risk genes contribute to epigenetic regulation but little is known about specific chromatin-associated mechanisms governing the formation of neuronal connectivity. Here we show that transcallosal connectivity is critically dependent on C11orf46, a nuclear protein encoded in the chromosome 11p13 WAGR risk locus. C11orf46 haploinsufficiency was associated with hypoplasia of the corpus callosum. C11orf46 knockdown disrupted transcallosal projections and was rescued by wild type C11orf46 but not the C11orf46
Indexed as
Epigenesis, GeneticGene EditingPromoter Regions, GeneticAdaptor Proteins, Vesicular TransportAnimalsAxonsCorpus CallosumEpigenomeGene Expression RegulationGenetic Predisposition to DiseaseHEK293 CellsHistone-Lysine N-MethyltransferaseHumansMice, Inbred C57BLNerve NetNeuritesAdaptor Proteins, Vesicular TransportARL14EP protein, humanHistone-Lysine N-MethyltransferaseNuclear ProteinsProtein MethyltransferasesSEMA6A protein, humanSemaphorinsSETDB1 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.