| Title: |
Integrative functional genomic analysis of human brain development and neuropsychiatric risks |
| Authors: |
Li, Mingfeng; Santpere, Gabriel; Imamura Kawasawa, Yuka; Evgrafov, Oleg V; Gulden, Forrest O; Pochareddy, Sirisha; Sunkin, Susan M; Li, Zhen; Shin, Yurae; Zhu, Ying; Sousa, André MM; Werling, Donna M; Kitchen, Robert R; Kang, Hyo Jung; Pletikos, Mihovil; Choi, Jinmyung; Muchnik, Sydney; Xu, Xuming; Wang, Daifeng; Lorente-Galdos, Belen; Liu, Shuang; Giusti-Rodríguez, Paola; Won, Hyejung; de Leeuw, Christiaan A; Pardiñas, Antonio F; Hu, Ming; Jin, Fulai; Li, Yun; Owen, Michael J; O’Donovan, Michael C; Walters, James TR; Posthuma, Danielle; Reimers, Mark A; Levitt, Pat; Weinberger, Daniel R; Hyde, Thomas M; Kleinman, Joel E; Geschwind, Daniel H; Hawrylycz, Michael J; State, Matthew W; Sanders, Stephan J; Sullivan, Patrick F; Gerstein, Mark B; Lein, Ed S; Knowles, James A; Sestan, Nenad; Willsey, A Jeremy; Oldre, Aaron; Szafer, Aaron; Camarena, Adrian; Cherskov, Adriana; Charney, Alexander W; Abyzov, Alexej; Kozlenkov, Alexey; Safi, Alexias; Jones, Allan R; Ashley-Koch, Allison E; Ebbert, Amanda; Price, Amanda J; Sekijima, Amanda; Kefi, Amira; Bernard, Amy; Amiri, Anahita; Sboner, Andrea; Clark, Andrew; Jaffe, Andrew E; Tebbenkamp, Andrew TN; Sodt, Andy J; Guillozet-Bongaarts, Angie L; Nairn, Angus C; Carey, Anita; Huttner, Anita; Chervenak, Ann; Szekely, Anna; Shieh, Annie W; Harmanci, Arif; Lipska, Barbara K; Carlyle, Becky C; Gregor, Ben W; Kassim, Bibi S; Sheppard, Brooke; Bichsel, Candace; Hahn, Chang-Gyu; Lee, Chang-Kyu; Chen, Chao; Kuan, Chihchau L; Dang, Chinh; Lau, Chris; Cuhaciyan, Christine; Armoskus, Christoper; Mason, Christopher E; Liu, Chunyu; Slaughterbeck, Cliff R; Bennet, Crissa; Pinto, Dalila; Polioudakis, Damon; Franjic, Daniel; Miller, Daniel J; Bertagnolli, Darren; Lewis, David A |
| Source: |
Science, vol 362, iss 6420 |
| Publisher Information: |
eScholarship, University of California |
| Publication Year: |
2018 |
| Collection: |
University of California: eScholarship |
| Subject Terms: |
31 Biological Sciences (for-2020); 3105 Genetics (for-2020); Human Genome (rcdc); Neurosciences (rcdc); Pediatric (rcdc); Biotechnology (rcdc); Mental Health (rcdc); Mental Illness (rcdc); Genetics (rcdc); 2.1 Biological and endogenous factors (hrcs-rac); Neurological (hrcs-hc); Brain (mesh); Epigenesis; Genetic (mesh); Epigenomics (mesh); Gene Expression Regulation; Developmental (mesh); Gene Regulatory Networks (mesh); Humans (mesh); Mental Disorders (mesh); Nervous System Diseases (mesh); Neurogenesis (mesh); Single-Cell Analysis (mesh); Transcriptome (mesh); BrainSpan Consortium; PsychENCODE Consortium; PsychENCODE Developmental Subgroup |
| Time: |
1264 - + |
| Description: |
To broaden our understanding of human neurodevelopment, we profiled transcriptomic and epigenomic landscapes across brain regions and/or cell types for the entire span of prenatal and postnatal development. Integrative analysis revealed temporal, regional, sex, and cell type-specific dynamics. We observed a global transcriptomic cup-shaped pattern, characterized by a late fetal transition associated with sharply decreased regional differences and changes in cellular composition and maturation, followed by a reversal in childhood-adolescence, and accompanied by epigenomic reorganizations. Analysis of gene coexpression modules revealed relationships with epigenomic regulation and neurodevelopmental processes. Genes with genetic associations to brain-based traits and neuropsychiatric disorders (including MEF2C, SATB2, SOX5, TCF4, and TSHZ3) converged in a small number of modules and distinct cell types, revealing insights into neurodevelopment and the genomic basis of neuropsychiatric risks. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
unknown |
| Relation: |
qt2gt1b22t; https://escholarship.org/uc/item/2gt1b22t; https://escholarship.org/content/qt2gt1b22t/qt2gt1b22t.pdf |
| DOI: |
10.1126/science.aat7615 |
| Availability: |
https://escholarship.org/uc/item/2gt1b22t; https://escholarship.org/content/qt2gt1b22t/qt2gt1b22t.pdf; https://doi.org/10.1126/science.aat7615 |
| Rights: |
public |
| Accession Number: |
edsbas.AB25714B |
| Database: |
BASE |