{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chapman G"],"funding":["Washington University in Saint Louis Children&apos;s Discovery Institute","National Institute of Neurological Disorders and Stroke","NCATS NIH HHS","Intellectual and Developmental Disabilities Research Center, School of Medicine, Washington University in St. Louis","NIMH NIH HHS","National Institute of Mental Health","NINDS NIH HHS","National Institutes of Health","National Institute of Child Health and Human Development"],"pagination":["109967"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11140214"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(6)"],"pubmed_abstract":["Although human cortical interneurons (cINs) are a minority population in the cerebral cortex, disruption of interneuron development is a frequent contributor to neurodevelopmental disorders. Here, we utilized a model for deriving cINs from human embryonic stem cells to profile chromatin state changes and generate an atlas of <i>cis</i>-regulatory elements (CREs) controlling human cIN development. We used these data to define candidate transcription factors (TFs) that may bind these CREs to regulate interneuron progenitor specification. Among these were RFX3 and RFX4, risk genes for autism spectrum disorder (ASD) with uncharacterized roles in human neuronal development. Using RFX3 and RFX4 knockdown models, we demonstrated new requirements for both genes in interneuron progenitor specificat"],"journal":["iScience"],"pubmed_title":["Defining cis-regulatory elements and transcription factors that control human cortical interneuron development."],"pmcid":["PMC11140214"],"funding_grant_id":["R01 NS114551","R01 MH124808","UL1 TR002345","R01HD110556","R01MH124808","P50HD103525","R01NS114551"],"pubmed_authors":["Jetter H","Chapman G","Determan J","Kroll KL","Prakasam R","Kaushik K"],"additional_accession":[]},"is_claimable":false,"name":"Defining cis-regulatory elements and transcription factors that control human cortical interneuron development.","description":"Although human cortical interneurons (cINs) are a minority population in the cerebral cortex, disruption of interneuron development is a frequent contributor to neurodevelopmental disorders. Here, we utilized a model for deriving cINs from human embryonic stem cells to profile chromatin state changes and generate an atlas of <i>cis</i>-regulatory elements (CREs) controlling human cIN development. We used these data to define candidate transcription factors (TFs) that may bind these CREs to regulate interneuron progenitor specification. Among these were RFX3 and RFX4, risk genes for autism spectrum disorder (ASD) with uncharacterized roles in human neuronal development. Using RFX3 and RFX4 knockdown models, we demonstrated new requirements for both genes in interneuron progenitor specificat","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-05-20T08:00:25.092Z","creation":"2026-05-20T03:08:42.29Z"},"accession":"S-EPMC11140214","cross_references":{"pubmed":["38827400"],"doi":["10.1016/j.isci.2024.109967"]}}