Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms

• Published in: Science (American Association for the Advancement of Science) Vol. 384; no. 6698; p. eadh7688
• Main Authors: Patowary, Ashok, Zhang, Pan, Jops, Connor, Vuong, Celine K., Ge, Xinzhou, Hou, Kangcheng, Kim, Minsoo, Gong, Naihua, Margolis, Michael, Vo, Daniel, Wang, Xusheng, Liu, Chunyu, Pasaniuc, Bogdan, Li, Jingyi Jessica, Gandal, Michael J., de la Torre-Ubieta, Luis
• Format: Journal Article
• Language: English
• Published: United States The American Association for the Advancement of Science 24.05.2024
• Subjects: Alternative Splicing; Autism; Autism Spectrum Disorders; Brain; Cellular structure; Cerebral cortex; Clustering; Disorders; Exons; Gene expression; Gene sequencing; Genetic diversity; Genetic Predisposition to Disease; Genetic variance; Humans; Intellectual disabilities; Isoforms; Mental disorders; Mental Disorders - genetics; Molecular modelling; Molecular Sequence Annotation; Neocortex; Neocortex - embryology; Neocortex - metabolism; Neurodevelopmental disorders; Neurogenesis; Neurogenesis - genetics; Protein Isoforms - genetics; Protein Isoforms - metabolism; Protein structure; Proteins; Proteomes; Ribonucleic acid; RNA; RNA Splicing; RNA-binding protein; RNA-Binding Proteins - genetics; RNA-Binding Proteins - metabolism; Single-Cell Analysis; Therapeutic applications; Transcriptome; Transcriptomes; Transcriptomics; Transcripts (Written Records)

RNA splicing is highly prevalent in the brain and has strong links to neuropsychiatric disorders; yet, the role of cell type–specific splicing and transcript-isoform diversity during human brain development has not been systematically investigated. In this work, we leveraged single-molecule long-rea...