{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim J"],"funding":["Simons Foundation","U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH)","NICHD NIH HHS","NIDA NIH HHS","NIMH NIH HHS","U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","U.S. Department of Health & Human Services | NIH | National Institute of Mental Health","NIGMS NIH HHS","U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development"],"pagination":["107"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12774972"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["Biological sex shapes the manifestation and progression of neurodevelopmental disorders (NDDs), however, the underlying mechanisms remains unclear. Hemideletion of the 16p11.2 region (16p11.2 del/+) is associated with NDDs, and 16p11.2 del/+ mice exhibit sex-specific, striatum-related phenotypes relevant to NDDs. In this study, using snRNA-seq, we identify cell type- and sex-specific transcriptomic changes in D1- and D2-spiny projection neurons (SPNs), with greater impact in males. Fiber photometry recordings reveal reduced neuronal activity in the dorsal striatum of 16p11.2 del/+ males, but not females, with D2-SPNs identified as the primary contributors to this reduction. Behaviorally, we utilize conditional genetic approaches and find that selective hemideletion in D2-SPNs, but not D1-S"],"journal":["Nature communications"],"pubmed_title":["A chromosome region linked to neurodevelopmental disorders influences locomotor behavior through sex-specific neural circuits."],"pmcid":["PMC12774972"],"funding_grant_id":["SFARI 345034","P50 HD103556","F31 MH134542","HAWK-IDDRC P50 HD103556","R01 MH115030","R01 DA056113","T32 GM067795","R01 MH087463","R01 MH 087463"],"pubmed_authors":["Nickl-Jockschat T","Davatolhagh MF","Abel T","Vanrobaeys Y","Ferri SL","Kim J","Angelakos C","Blackwell KT","Rajan R","Mills AA","Fuccillo MV","Kelvington B","Chatterjee S"],"additional_accession":[]},"is_claimable":false,"name":"A chromosome region linked to neurodevelopmental disorders influences locomotor behavior through sex-specific neural circuits.","description":"Biological sex shapes the manifestation and progression of neurodevelopmental disorders (NDDs), however, the underlying mechanisms remains unclear. Hemideletion of the 16p11.2 region (16p11.2 del/+) is associated with NDDs, and 16p11.2 del/+ mice exhibit sex-specific, striatum-related phenotypes relevant to NDDs. In this study, using snRNA-seq, we identify cell type- and sex-specific transcriptomic changes in D1- and D2-spiny projection neurons (SPNs), with greater impact in males. Fiber photometry recordings reveal reduced neuronal activity in the dorsal striatum of 16p11.2 del/+ males, but not females, with D2-SPNs identified as the primary contributors to this reduction. Behaviorally, we utilize conditional genetic approaches and find that selective hemideletion in D2-SPNs, but not D1-S","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-07-15T13:22:06.488Z","creation":"2026-07-05T03:08:18.472Z"},"accession":"S-EPMC12774972","cross_references":{"pubmed":["41484117"],"doi":["10.1038/s41467-025-68047-y"]}}