Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders
作者： Jingjing Li , Zhihai Ma , Minyi Shi , Ramy H. Malty , Hiroyuki Aoki
DOI: 10.1016/J.CELS.2015.11.002
关键词:
摘要: The prevalence of autism spectrum disorders (ASDs) is rapidly growing, yet its molecular basis poorly understood. We used a systems approach in which ASD candidate genes were mapped onto the ubiquitous human protein complexes and resulting characterized. studies revealed role histone deacetylases (HDAC1/2) regulating expression orthologs embryonic mouse brain. Proteome-wide screens for co-complexed subunits with HDAC1 six other key proteins neuronal cells interaction network, displayed preferential fetal brain development, exhibited increased deleterious mutations cases, strongly regulated by FMRP MECP2 causal Fragile X Rett syndromes, respectively. Overall, our study reveals components ASD, suggests shared mechanism between syndromic idiopathic forms ASDs, provides framework analyzing complex diseases.
core.ac.uk
sci-hub.se 参考文章(45)
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler, Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Nature. ,vol. 485, pp. 246- 250 ,(2012) , 10.1038/NATURE10989
Joyce van de Leemput, Nathan C. Boles, Thomas R. Kiehl, Barbara Corneo, Patty Lederman, Vilas Menon, Changkyu Lee, Refugio A. Martinez, Boaz P. Levi, Carol L. Thompson, Shuyuan Yao, Ajamete Kaykas, Sally Temple, Christopher A. Fasano, CORTECON: a temporal transcriptome analysis of in vitro human cerebral cortex development from human embryonic stem cells. Neuron. ,vol. 83, pp. 51- 68 ,(2014) , 10.1016/J.NEURON.2014.05.013
Àlex Bayés, Louie N van de Lagemaat, Mark O Collins, Mike D R Croning, Ian R Whittle, Jyoti S Choudhary, Seth G N Grant, Characterization of the proteome, diseases and evolution of the human postsynaptic density Nature Neuroscience. ,vol. 14, pp. 19- 21 ,(2011) , 10.1038/NN.2719
Claude-Henry Volmar, Claes Wahlestedt, Histone deacetylases (HDACs) and brain function Neuroepigenetics. ,vol. 1, pp. 20- 27 ,(2015) , 10.1016/J.NEPIG.2014.10.002
Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber, None, Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism PLoS Genetics. ,vol. 9, pp. e1003523- ,(2013) , 10.1371/JOURNAL.PGEN.1003523
Andrew G. Foley, Shane Gannon, Nanette Rombach-Mullan, Alison Prendergast, Claire Barry, Andrew W. Cassidy, Ciaran M. Regan, Class I histone deacetylase inhibition ameliorates social cognition and cell adhesion molecule plasticity deficits in a rodent model of autism spectrum disorder. Neuropharmacology. ,vol. 63, pp. 750- 760 ,(2012) , 10.1016/J.NEUROPHARM.2012.05.042
Irina Voineagu, Xinchen Wang, Patrick Johnston, Jennifer K. Lowe, Yuan Tian, Steve Horvath, Jonathan Mill, Rita M. Cantor, Benjamin J. Blencowe, Daniel H. Geschwind, Transcriptomic analysis of autistic brain reveals convergent molecular pathology Nature. ,vol. 474, pp. 380- 384 ,(2011) , 10.1038/NATURE10110
A G Chiocchetti, M Kopp, R Waltes, D Haslinger, E Duketis, T A Jarczok, F Poustka, A Voran, U Graab, J Meyer, S M Klauck, S Fulda, C M Freitag, Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach. Molecular Psychiatry. ,vol. 20, pp. 839- 849 ,(2015) , 10.1038/MP.2014.103
Ivan Iossifov, Brian J. O’Roak, Stephan J. Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A. Stessman, Kali T. Witherspoon, Laura Vives, Karynne E. Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis E. Gonzalez, Jeffrey D. Mandell, Shrikant M. Mane, Michael T. Murtha, Catherine A. Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoon-ha Lee, Ewa Grabowska, Ertugrul Dalkic, Zihua Wang, Steven Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler, The contribution of de novo coding mutations to autism spectrum disorder Nature. ,vol. 515, pp. 216- 221 ,(2014) , 10.1038/NATURE13908
A Jeremy Willsey, Stephan J Sanders, Mingfeng Li, Shan Dong, Andrew T Tebbenkamp, Rebecca A Muhle, Steven K Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A Miller, Michael T Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A Gulhan Ercan-Sencicek, Jake Gockley, Abha R Gupta, Wenqi Han, Xin He, Ellen J Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant M Mane, Ed S Lein, Liping Wei, James P Noonan, Kathryn Roeder, Bernie Devlin, Nenad Sestan, None, Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism Cell. ,vol. 155, pp. 997- 1007 ,(2013) , 10.1016/J.CELL.2013.10.020