biostudies-literatureKim JSimons FoundationU.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH)NICHD NIH HHSNIMH NIH HHSNIGMS NIH HHS1310-1321https://www.ebi.ac.uk/biostudies/studies/S-EPMC11189748biostudies-literatureUnknown29(5)Neurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants (CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of striatal circuits is considered a central mechanism in NDDs. The 16p11.2 hemi-deletion (16p11.2 del/+) is one of the most common CNVs associated with NDD, and 16p11.2 del/+ mice show sex-specific striatum-related behavioral phenotypes. However, the critical genes among the 27 genes in the 16p11.2 region that underlie these phenotypes remain unknown. Previously, we applied a novel strategy to identify candidate genes associated with the sex-specific phenotypes of 16p11.2 del/+ mice and highlighted three genes within the deleted region: thousand and one amino acid protein kinase 2 (Taok2), seizure-related 6 homolog-likeMolecular psychiatryDissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders.PMC11189748345034P50 HD103556F31 MH134542T32 GM067795R01 MH087463MH 087463Baldwin EPeterson ZNickl-Jockschat TAbel TKelvington BVanrobaeys YKim JGaine MEfalseDissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders.Neurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants (CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of striatal circuits is considered a central mechanism in NDDs. The 16p11.2 hemi-deletion (16p11.2 del/+) is one of the most common CNVs associated with NDD, and 16p11.2 del/+ mice show sex-specific striatum-related behavioral phenotypes. However, the critical genes among the 27 genes in the 16p11.2 region that underlie these phenotypes remain unknown. Previously, we applied a novel strategy to identify candidate genes associated with the sex-specific phenotypes of 16p11.2 del/+ mice and highlighted three genes within the deleted region: thousand and one amino acid protein kinase 2 (Taok2), seizure-related 6 homolog-like2024-01-01T00:00:00Z2024 May2025-04-20T02:13:08.595Z2025-04-20T02:13:08.595ZS-EPMC111897483827899410.1038/s41380-024-02411-0