ArticleProceedings of the National Academy of Sciences of the United States of America2009
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers.
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Who cites it
106 citing papers in PubMed, 171 citations in OpenAlex.
- An antioxidant therapy elicits distinct transcriptome responses in 22q11-deleted upper layer cortical projection neurons.Disease models & mechanisms · 2026Article
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.bioRxiv : the preprint server for biology · 2025Article
- Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- An ace in the hole? Opportunities and limits of using mice to understand schizophrenia neurobiology.Molecular psychiatry · 2025Review
- Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders.Biological psychiatry global open science · 2025Article
- Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.European journal of neurology · 2025Article
- Polygenicity in a box: Copy number variants, neural circuit development, and neurodevelopmental disorders.Current opinion in neurobiology · 2024Review
- Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Out of Line or Altered States? Neural Progenitors as a Target in a Polygenic Neurodevelopmental Disorder.Developmental neuroscience · 2024Review
- Mitochondrial proteins encoded by the 22q11.2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation.Molecular psychiatry · 2023Article
- Increased Central Auditory Gain and Decreased Parvalbumin-Positive Cortical Interneuron Density in theBiological psychiatry global open science · 2023Article
- Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.Journal of neurodevelopmental disorders · 2023Review
- A CRISPR-engineered isogenic model of the 22q11.2 A-B syndromic deletion.Scientific reports · 2023Article
- Present and Future Modeling of Human Psychiatric Connectopathies With Brain Organoids.Biological psychiatry · 2023Review
- Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.International journal of molecular sciences · 2023Review
- Mitochondrial genes in the 22q11.2 deleted region regulate neural stem and progenitor cell proliferation.bioRxiv : the preprint server for biology · 2023Article
- Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome.Disease models & mechanisms · 2022Article
- Spatiotemporal 22q11.21 Protein Network Implicates DGCR8-Dependent MicroRNA Biogenesis as a Risk for Late-Fetal Cortical Development in Psychiatric Diseases.Life (Basel, Switzerland) · 2021Article
- Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.Molecular psychiatry · 2020Article
46 more citing papers are in PubMed but not listed here.
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4 authors at 1 institution in 1 country.
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Abstract
The 22q11 deletion (or DiGeorge) syndrome (22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in dramatically increased susceptibility for "diseases of cortical connectivity" thought to arise during development, including schizophrenia and autism. We show that diminished dosage of the genes deleted in the 1.5-megabase 22q11 minimal critical deleted region in a mouse model of 22q11DS specifically compromises neurogenesis and subsequent differentiation in the cerebral cortex. Proliferation of basal, but not apical, progenitors is disrupted, and subsequently, the frequency of layer 2/3, but not layer 5/6, projection neurons is altered. This change is paralleled by aberrant distribution of parvalbumin-labeled interneurons in upper and lower cortical layers. Deletion of Tbx1 or Prodh (22q11 genes independently associated with 22q11DS phenotypes) does not similarly disrupt basal progenitors. However, expression analysis implicates additional 22q11 genes that are selectively expressed in cortical precursors. Thus, diminished 22q11 gene dosage disrupts cortical neurogenesis and interneuron migration. Such developmental disruption may alter cortical circuitry and establish vulnerability for developmental disorders, including schizophrenia and autism.
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