Literature DB >> 30545854

Integrative functional genomic analysis of human brain development and neuropsychiatric risks.

Mingfeng Li, Gabriel Santpere, Yuka Imamura Kawasawa, Oleg V Evgrafov, Forrest O Gulden, Sirisha Pochareddy, Susan M Sunkin, Zhen Li, Yurae Shin, Ying Zhu, André M M Sousa, Donna M Werling, Robert R Kitchen, Hyo Jung Kang, Mihovil Pletikos, Jinmyung Choi, Sydney Muchnik, Xuming Xu, Daifeng Wang, Belen Lorente-Galdos, Shuang Liu, Paola Giusti-Rodríguez, Hyejung Won, Christiaan A de Leeuw, Antonio F Pardiñas, Ming Hu, Fulai Jin, Yun Li, Michael J Owen, Michael C O'Donovan, James T R Walters, Danielle Posthuma, Mark A Reimers, Pat Levitt, Daniel R Weinberger, Thomas M Hyde, Joel E Kleinman, Daniel H Geschwind, Michael J Hawrylycz, Matthew W State, Stephan J Sanders, Patrick F Sullivan, Mark B Gerstein, Ed S Lein, James A Knowles, Nenad Sestan.   

Abstract

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.
Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Year:  2018        PMID: 30545854      PMCID: PMC6413317          DOI: 10.1126/science.aat7615

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  74 in total

1.  Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Authors:  Markus Zweier; Anne Gregor; Christiane Zweier; Hartmut Engels; Heinrich Sticht; Eva Wohlleber; Emilia K Bijlsma; Susan E Holder; Martin Zenker; Eva Rossier; Ute Grasshoff; Diana S Johnson; Lisa Robertson; Helen V Firth; Arif B Ekici; André Reis; Anita Rauch
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

2.  A phylogenetically based transcriptome age index mirrors ontogenetic divergence patterns.

Authors:  Tomislav Domazet-Lošo; Diethard Tautz
Journal:  Nature       Date:  2010-12-09       Impact factor: 49.962

3.  Gene expression divergence recapitulates the developmental hourglass model.

Authors:  Alex T Kalinka; Karolina M Varga; Dave T Gerrard; Stephan Preibisch; David L Corcoran; Julia Jarrells; Uwe Ohler; Casey M Bergman; Pavel Tomancak
Journal:  Nature       Date:  2010-12-09       Impact factor: 49.962

4.  Molecular analysis of neocortical layer structure in the ferret.

Authors:  Joanna J Rowell; Atul K Mallik; Jennifer Dugas-Ford; Clifton W Ragsdale
Journal:  J Comp Neurol       Date:  2010-08-15       Impact factor: 3.215

5.  Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Authors:  Jeanne Amiel; Marlene Rio; Loic de Pontual; Richard Redon; Valerie Malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas Lyonnet; Arnold Munnich; Laurence Colleaux
Journal:  Am J Hum Genet       Date:  2007-03-23       Impact factor: 11.025

6.  Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Authors:  Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton-Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Gohring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nurnberg; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-03-23       Impact factor: 11.025

7.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

8.  Amygdala volume in major depressive disorder: a meta-analysis of magnetic resonance imaging studies.

Authors:  J P Hamilton; M Siemer; I H Gotlib
Journal:  Mol Psychiatry       Date:  2008-05-27       Impact factor: 15.992

9.  Functional and evolutionary insights into human brain development through global transcriptome analysis.

Authors:  Matthew B Johnson; Yuka Imamura Kawasawa; Christopher E Mason; Zeljka Krsnik; Giovanni Coppola; Darko Bogdanović; Daniel H Geschwind; Shrikant M Mane; Matthew W State; Nenad Sestan
Journal:  Neuron       Date:  2009-05-28       Impact factor: 17.173

Review 10.  Why do many psychiatric disorders emerge during adolescence?

Authors:  Tomás Paus; Matcheri Keshavan; Jay N Giedd
Journal:  Nat Rev Neurosci       Date:  2008-11-12       Impact factor: 34.870

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  180 in total

Review 1.  Convergence of spectrums: neuronal gene network states in autism spectrum disorder.

Authors:  Josefa M Sullivan; Silvia De Rubeis; Anne Schaefer
Journal:  Curr Opin Neurobiol       Date:  2019-06-18       Impact factor: 6.627

Review 2.  Druggable Transcriptional Networks in the Human Neurogenic Epigenome.

Authors:  Gerald A Higgins; Aaron M Williams; Alex S Ade; Hasan B Alam; Brian D Athey
Journal:  Pharmacol Rev       Date:  2019-10       Impact factor: 25.468

Review 3.  Signatures of sex: Sex differences in gene expression in the vertebrate brain.

Authors:  Bruno Gegenhuber; Jessica Tollkuhn
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2019-05-20       Impact factor: 5.814

Review 4.  Lessons from single cell sequencing in CNS cell specification and function.

Authors:  Zhen Li; William A Tyler; Tarik F Haydar
Journal:  Curr Opin Genet Dev       Date:  2020-07-14       Impact factor: 5.578

5.  Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Authors:  Sheng Chih Jin; Weilai Dong; Adam J Kundishora; Shreyas Panchagnula; Andres Moreno-De-Luca; Charuta G Furey; August A Allocco; Rebecca L Walker; Carol Nelson-Williams; Hannah Smith; Ashley Dunbar; Sierra Conine; Qiongshi Lu; Xue Zeng; Michael C Sierant; James R Knight; William Sullivan; Phan Q Duy; Tyrone DeSpenza; Benjamin C Reeves; Jason K Karimy; Arnaud Marlier; Christopher Castaldi; Irina R Tikhonova; Boyang Li; Helena Perez Peña; James R Broach; Edith M Kabachelor; Peter Ssenyonga; Christine Hehnly; Li Ge; Boris Keren; Andrew T Timberlake; June Goto; Francesco T Mangano; James M Johnston; William E Butler; Benjamin C Warf; Edward R Smith; Steven J Schiff; David D Limbrick; Gregory Heuer; Eric M Jackson; Bermans J Iskandar; Shrikant Mane; Shozeb Haider; Bulent Guclu; Yasar Bayri; Yener Sahin; Charles C Duncan; Michael L J Apuzzo; Michael L DiLuna; Ellen J Hoffman; Nenad Sestan; Laura R Ment; Seth L Alper; Kaya Bilguvar; Daniel H Geschwind; Murat Günel; Richard P Lifton; Kristopher T Kahle
Journal:  Nat Med       Date:  2020-10-19       Impact factor: 53.440

Review 6.  Interrogating Parkinson's disease associated redox targets: Potential application of CRISPR editing.

Authors:  M A Artyukhova; Y Y Tyurina; C T Chu; T M Zharikova; H Bayır; V E Kagan; P S Timashev
Journal:  Free Radic Biol Med       Date:  2019-06-12       Impact factor: 7.376

Review 7.  Postmortem brain tissue as an underutilized resource to study the molecular pathology of neuropsychiatric disorders across different ethnic populations.

Authors:  Eric Vornholt; Dan Luo; Wenying Qiu; Gowon O McMichael; Yangyang Liu; Nathan Gillespie; Chao Ma; Vladimir I Vladimirov
Journal:  Neurosci Biobehav Rev       Date:  2019-04-24       Impact factor: 8.989

8.  Research Domain Criteria: Strengths, Weaknesses, and Potential Alternatives for Future Psychiatric Research.

Authors:  Christopher A Ross; Russell L Margolis
Journal:  Mol Neuropsychiatry       Date:  2019-08-13

9.  Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Authors:  F Kyle Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; Grace Schwartz; Rachel Nguyen; Elizabeth E Guerrero; Caroline Dias; Catalina Betancur; Edwin H Cook; Louise Gallagher; Michael Gill; James S Sutcliffe; Audrey Thurm; Michael E Zwick; Anders D Børglum; Matthew W State; A Ercument Cicek; Michael E Talkowski; David J Cutler; Bernie Devlin; Stephan J Sanders; Kathryn Roeder; Mark J Daly; Joseph D Buxbaum
Journal:  Cell       Date:  2020-01-23       Impact factor: 41.582

10.  Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder.

Authors:  Sandy Trinh; Anne Arnett; Evangeline Kurtz-Nelson; Jennifer Beighley; Marta Picoto; Raphael Bernier
Journal:  Dev Psychopathol       Date:  2020-10
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