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DOI10.1126/science.aat7615
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
Li M.; Santpere G.; Kawasawa Y.I.; Evgrafov O.V.; Gulden F.O.; Pochareddy S.; Sunkin S.M.; Li Z.; Shin Y.; Zhu Y.; Sousa A.M.M.; Werling D.M.; Kitchen R.R.; Kang H.J.; Pletikos M.; Choi J.; Muchnik S.; Xu X.; Wang D.; Lorente-Galdos B.; Liu S.; Giusti-Rodríguez P.; Won H.; De Leeuw C.A.; Pardiñas A.F.; Reimers M.A.; Willsey A.J.; Oldre A.; Szafer A.; Camarena A.; Cherskov A.; Charney A.W.; Abyzov A.; Kozlenkov A.; Safi A.; Jones A.R.; Ashley-Koch AE.; Ebbert A.; Price A.J.; Sekijima A.; Kefi A.; Bernard A.; Amiri A.; Sboner A.; Clark A.; Jaffe A.E.; Tebbenkamp A.T.N.; Sodt A.J.; Guillozet-Bongaarts AL.; Nairn A.C.; Carey A.; Huttner A.; Chervenak A.; Szekely A.; Shieh A.W.; Harmanci A.; Lipska B.K.; Carlyle B.C.; Gregor B.W.; Kassim B.S.; Sheppard B.; Bichsel C.; Hahn C.G.; Lee C.K.; Chen C.; Kuan C.L.; Dang C.; Lau C.; Cuhaciyan C.; Armoskus C.; Mason C.E.; Liu C.; Slaughterbeck C.R.; Bennet C.; Pinto D.; Polioudakis D.; Franjic D.; Miller D.J.; Bertagnolli D.; Lewis D.A.; Feng D.; Sandman D.; Clarke D.; Williams D.; DelValle D.; Fitzgerald D.; Shen E.H.; Flatow E.; Zharovsky E.; Burke E.E.; Olson E.; Fulfs E.; Mattei E.; Hadjimichael E.; Deelman E.; Navarro F.C.P.; Wu F.; Lee F.; Cheng F.; Goes F.S.; Vaccarino F.M.; Liu F.; Hoffman G.E.; Gürsoy G.; Gee G.; Mehta G.; Coppola G.; Giase G.; Sedmak G.; Johnson G.D.; Wray G.A.; Crawford G.E.; Gu G.; van Bakel H.; Witt H.; Yoon H.J.; Pratt H.; Zhao H.; Glass I.A.; Huey J.; Arnold J.; Noonan J.P.; Bendl J.; Jochim J.M.; Goldy J.; Herstein J.; Wiseman J.R.; Miller J.A.; Mariani J.; Stoll J.; Moore J.; Szatkiewicz J.; Leng J.; Zhang J.; Parente J.; Rozowsky J.; Fullard J.F.; Hohmann J.G.; Morris J.; Phillips J.W.; Warrell J.; Shin J.H.; An J.Y.; Belmont J.; Nyhus J.; Pendergraft J.; Bryois J.; Roll K.; Grennan K.S.; Aiona K.; White K.P.; Aldinger K.A.; Smith K.A.; Girdhar K.; Brouner K.; Mangravite L.M.; Brown L.; Collado-Torres L.; Cheng L.; Gourley L.; Song L.; Ubieta L.T.; Habegger L.; Ng L.; Hauberg M.E.; Onorati M.; Webster M.J.; Kundakovic M.; Skarica M.; Johnson M.B.; Chen M.M.; Garrett M.E.; Sarreal M.; Reding M.; Gu M.; Peters M.A.; Fisher M.; Gandal M.J.; Purcaro M.; Smith M.; Brown M.; Shibata M.; Xu M.; Yang M.; Ray M.; Shapovalova N.V.; Francoeur N.; Sjoquist N.; Mastan N.; Kaur N.; Parikshak N.; Mosqueda N.F.; Ngo N.K.; Dee N.; Ivanov N.A.; Devillers O.; Roussos P.; Parker P.D.; Manser P.; Wohnoutka P.; Farnham P.J.; Zandi P.; Emani P.S.; Dalley R.A.; Mayani R.; Tao R.; Gittin R.; Straub R.E.; Lifton R.P.; Jacobov R.; Howard R.E.; Park R.B.; Dai R.; Abramowicz S.; Akbarian S.; Schreiner S.; Ma S.; Parry S.E.; Shapouri S.; Weissman S.; Caldejon S.; Mane S.; Ding S.L.; Scuderi S.; Dracheva S.; Butler S.; Lisgo S.N.; Rhie S.K.; Lindsay S.; Datta S.; Souaiaia T.; Roychowdhury T.; Gomez T.; Naluai-Cecchini T.; Beach TG.; Goodman T.; Gao T.; Dolbeare T.A.; Fliss T.; Reddy T.E.; Chen T.; Brunetti T.; Lemon T.A.; Desta T.; Borrman T.; Haroutunian V.; Spitsyna V.N.; Swarup V.; Shi X.; Jiang Y.; Xia Y.; Chen Y.H.; Wang Y.; Chae Y.; Yang Y.T.; Kim Y.; Riley Z.L.; Krsnik Z.; Deng Z.; Weng Z.; Lin Z.; Hu M.; Jin F.; Li Y.; Owen M.J.; O'Donovan M.C.; Walters J.T.R.; Posthuma D.; Levitt P.; Weinberger D.R.; Hyde T.M.; Kleinman J.E.; Geschwind D.H.; Hawrylycz M.J.; State M.W.; Sanders S.J.; Sullivan P.F.; Gerstein M.B.; Lein E.S.; Knowles J.A.; Sestan N.
发表日期2018
ISSN0036-8075
卷号362期号:6420
英文摘要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. © 2018 American Association for the Advancement of Science. All rights reserved.
英文关键词transcription factor 4; transcription factor Sox5; transcriptome; transcriptome; adolescence; brain; cell component; developmental biology; gene; gene expression; genetic analysis; genomics; maturation; nervous system disorder; adolescent; adult; adulthood; Article; brain cell; brain development; brain region; cell composition; cell maturation; child; controlled study; DNA methylation; embryo; embryo development; epigenetics; female; functional genomics; gene; gene expression regulation; genetic analysis; genetic association; genetic trait; histone modification; human; human cell; human tissue; infant; male; MEF2C gene; nerve cell differentiation; neuropsychiatric risk; newborn; postnatal development; prenatal development; priority journal; risk factor; SATB2 gene; single cell analysis; SOX5 gene; spatiotemporal analysis; TCF4 gene; transcriptomics; TSHZ3 gene; brain; embryology; gene expression regulation; gene regulatory network; genetic epigenesis; genetics; growth, development and aging; mental disease; nervous system development; neurologic disease; Brain; Epigenesis, Genetic; Epigenomics; Gene Expression Regulation, Developmental; Gene Regulatory Networks; Humans; Mental Disorders; Nervous System Diseases; Neurogenesis; Single-Cell Analysis; Transcriptome
语种英语
来源期刊Science
文献类型期刊论文
条目标识符http://gcip.llas.ac.cn/handle/2XKMVOVA/244531
作者单位Department of Neuroscience, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, United States; Institute for Personalized Medicine, Pennsylvania State University, College of Medicine, Hershey, PA, United States; Department of Cell Biology, SUNY Downstate Medical Center, Brooklyn, NY, United States; Allen Institute for Brain Science, Seattle, WA, United States; National Research Foundation of Korea, Daejeon, South Korea; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, United States; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, United States; Department of Psychiatry, Yale School of Medicine, New Haven, CT, United States; Department of Life Science, Chung-Ang University, Seoul, South Korea; Department of Anatomy and Neurobiology, Boston University, School of MedicineMA, United States; Department of Biomedical Informatics, Stony Brook UniversityNY, United States; Department of Genetics, University of North Car...
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Li M.,Santpere G.,Kawasawa Y.I.,et al. Integrative functional genomic analysis of human brain development and neuropsychiatric risks[J],2018,362(6420).
APA Li M..,Santpere G..,Kawasawa Y.I..,Evgrafov O.V..,Gulden F.O..,...&Sestan N..(2018).Integrative functional genomic analysis of human brain development and neuropsychiatric risks.Science,362(6420).
MLA Li M.,et al."Integrative functional genomic analysis of human brain development and neuropsychiatric risks".Science 362.6420(2018).
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