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Synaptic, transcriptional and chromatin genes disrupted in autism

De Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P ; Poultney, Christopher S ; Samocha, Kaitlin ; Cicek, A Erucment ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarinder ; Klei, Lambertus ; Kosmicki, Jack ; Shih-Chen, Fu ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F ; Brownfeld, Jessica M ; Cai, Jinlu ; Campbell, Nicholas G ; Carracedo, Angel ; Chahrour, Maria H ; Chiocchetti, Andreas G ; Coon, Hilary ; Crawford, Emily L ; Curran, Sarah R ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J ; Hill, R Sean ; Ionita-Laza, Juliana ; Jimenz Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M ; Kolevzon, Alexander ; Lee, Irene ; Lei, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma'ayan, Avi ; Marshall, Christian R ; McInnes, Alison L ; Neale, Benjamin ; Owen, Michael J ; Ozaki, Noriio ; Parellada, Mara ; Parr, Jeremy R ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Li-San, Wang ; Weiss, Lauren A ; Willsey, A Jeremy ; Yu, Timothy W ; Yuen, Ryan K C ; Cook, Edwin H ; Freitag, Christine M ; Gill, Michael ; Hultman, Christina M ; Lehner, Thomas ; Palotie, Aaarno ; Schellenberg, Gerard D ; Sklar, Pamela ; State, Matthew W ; Sutcliffe, James S ; Walsh, Christiopher A ; Scherer, Stephen W ; Zwick, Michael E ; Barett, Jeffrey C ; Cutler, David J ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J ; Buxbaum, Joseph D

Nature (London), 2014-11, Vol.515 (7526), p.209-215 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Synaptic, transcriptional and chromatin genes disrupted in autism
Autor: De Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P ; Poultney, Christopher S ; Samocha, Kaitlin ; Cicek, A Erucment ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarinder ; Klei, Lambertus ; Kosmicki, Jack ; Shih-Chen, Fu ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F ; Brownfeld, Jessica M ; Cai, Jinlu ; Campbell, Nicholas G ; Carracedo, Angel ; Chahrour, Maria H ; Chiocchetti, Andreas G ; Coon, Hilary ; Crawford, Emily L ; Curran, Sarah R ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J ; Hill, R Sean ; Ionita-Laza, Juliana ; Jimenz Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M ; Kolevzon, Alexander ; Lee, Irene ; Lei, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma'ayan, Avi ; Marshall, Christian R ; McInnes, Alison L ; Neale, Benjamin ; Owen, Michael J ; Ozaki, Noriio ; Parellada, Mara ; Parr, Jeremy R ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Li-San, Wang ; Weiss, Lauren A ; Willsey, A Jeremy ; Yu, Timothy W ; Yuen, Ryan K C ; Cook, Edwin H ; Freitag, Christine M ; Gill, Michael ; Hultman, Christina M ; Lehner, Thomas ; Palotie, Aaarno ; Schellenberg, Gerard D ; Sklar, Pamela ; State, Matthew W ; Sutcliffe, James S ; Walsh, Christiopher A ; Scherer, Stephen W ; Zwick, Michael E ; Barett, Jeffrey C ; Cutler, David J ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J ; Buxbaum, Joseph D
Assuntos: Amino Acid Sequence ; Analysis ; Autism ; Child Development Disorders, Pervasive - genetics ; Child Development Disorders, Pervasive - pathology ; Chromatin ; Chromatin - genetics ; Chromatin - metabolism ; Chromatin Assembly and Disassembly ; DNA sequencing ; Exome - genetics ; Female ; Gene mutations ; Genes ; Genetic Predisposition to Disease - genetics ; Genetic transcription ; Germ-Line Mutation - genetics ; Health aspects ; Humans ; Male ; Medicin och hälsovetenskap ; Molecular Sequence Data ; Mutation ; Mutation - genetics ; Mutation, Missense - genetics ; Nerve Net - metabolism ; Neurosciences ; Nucleotide sequencing ; Odds Ratio ; Pervasive developmental disorders ; Studies ; Synapses - metabolism ; Transcription, Genetic - genetics
É parte de: Nature (London), 2014-11, Vol.515 (7526), p.209-215
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Full list of members in the Supplementary Notes.
Descrição: The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.
Editor: England: Nature Publishing Group
Idioma: Inglês

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Synaptic, transcriptional and chromatin genes disrupted in autism

England: Nature Publishing Group

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