ArticleGenome research2016
TBR1 regulates autism risk genes in the developing neocortex.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 72 citations in OpenAlex.
- Differential Neurodevelopmental Disruption by Bisphenol A (BPA) and Valproic Acid (VPA) in Human Forebrain Organoids.bioRxiv : the preprint server for biology · 2026Article
- Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment.bioRxiv : the preprint server for biology · 2025Article
- Review
- NovelGenes · 2025Article
- The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Comparative study of the effects of prenatal sevoflurane exposure at different cortical stages on forebrain development and maturation in offspring.Frontiers in neuroscience · 2025Article
- Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.Cell reports · 2024Article
- H2A monoubiquitination: insights from human genetics and animal models.Human genetics · 2024Review
- Review
- Possible roles of deep cortical neurons and oligodendrocytes in the neural basis of human sociality.Anatomical science international · 2024Review
- Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.Human molecular genetics · 2023Article
- Laminar dynamics of deep projection neurons and mode of subplate formation are hallmarks of histogenetic subdivisions of the human cingulate cortex before onset of arealization.Brain structure & function · 2023Article
- Review
- A novel intergenic enhancer that regulatesiScience · 2023Article
- Nonparametric single-cell multiomic characterization of trio relationships between transcription factors, target genes, and cis-regulatory regions.Cell systems · 2022Article
- Shared and Distinct Functional Effects of Patient-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex.Molecular neurobiology · 2022Article
- Multimodal profiling of the transcriptional regulatory landscape of the developing mouse cortex identifies Neurog2 as a key epigenome remodeler.Nature neuroscience · 2022Article
- The Neuron Navigators: Structure, function, and evolutionary history.Frontiers in molecular neuroscience · 2022Review
- Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including TBR1, a master regulator of cortical development. We performed ChIP-seq for TBR1 during mouse cortical neurogenesis and show that TBR1-bound regions are enriched adjacent to ASD genes. ASD genes were also enriched among genes that are differentially expressed in Tbr1 knockouts, which together with the ChIP-seq data, suggests direct transcriptional regulation. Of the nine ASD genes examined, seven were misexpressed in the cortices of Tbr1 knockout mice, including six with increased expression in the deep cortical layers. ASD genes with adjacent cortical TBR1 ChIP-seq peaks also showed unusually low levels of LoF mutations in a reference human population and among Icelanders. We then leveraged TBR1 binding to identify an appealing subset of candidate ASD genes. Our findings highlight a TBR1-regulated network of ASD genes in the developing neocortex that are relatively intolerant to LoF mutations, indicating that these genes may play critical roles in normal cortical development.
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Registered trials
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.