Getting to the Cores of Autism.

Animals Autism Spectrum Disorder / genetics Cells, Cultured DNA Copy Number Variations Disease Models, Animal Gene Regulatory Networks Genetic Predisposition to Disease / genetics Humans Multifactorial Inheritance / genetics Neurogenesis

Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
05 09 2019
Historique:
received: 27 12 2018
revised: 07 06 2019
accepted: 18 07 2019
entrez: 7 9 2019
pubmed: 7 9 2019
medline: 17 6 2020
Statut: ppublish

Résumé

The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic spectrum that consists of rare de novo or inherited variants in hundreds of genes and common polygenic risk at thousands of loci. ASD susceptibility genes are interconnected at the level of transcriptional and protein networks, and many function as genetic regulators of neurodevelopment or synaptic proteins that regulate neural activity. So that the core underlying neuropathologies can be further elucidated, we emphasize the importance of first defining subtypes of ASD on the basis of the phenotypic signatures of genes in model systems and humans.

Identifiants

DOI: 10.1016/j.cell.2019.07.037 PMID: 31491383 PMC: PMC7039308
pubmed: 31491383
pii: S0092-8674(19)30836-0
doi: 10.1016/j.cell.2019.07.037
pmc: PMC7039308
mid: NIHMS1538208
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1287-1298

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD065288
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH108528
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH109501
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH104766
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH109885
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH105524
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH113179
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119746
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH113715
Pays : United States

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Références

Sci Transl Med. 2011 Jun 8;3(86):86ra49
pubmed: 21653829
J Neurosci. 2017 Jun 28;37(26):6183-6199
pubmed: 28536274
Science. 2018 Apr 20;360(6386):327-331
pubmed: 29674594
J Child Psychol Psychiatry. 2013 Feb;54(2):206-15
pubmed: 22862778
Nature. 2012 Apr 04;485(7397):246-50
pubmed: 22495309
Cell. 2010 Apr 16;141(2):210-7
pubmed: 20403315
Cell Stem Cell. 2019 Oct 3;25(4):558-569.e7
pubmed: 31474560
PLoS Genet. 2012;8(11):e1003067
pubmed: 23209433
Eur J Hum Genet. 2009 Apr;17(4):444-53
pubmed: 18985075
Cell Rep. 2019 Sep 24;28(13):3320-3328.e4
pubmed: 31553903
Trends Neurosci. 2016 May;39(5):290-299
pubmed: 27032601
Genet Med. 2019 Apr;21(4):816-825
pubmed: 30190612
Nature. 2012 Apr 04;485(7397):242-5
pubmed: 22495311
Nat Genet. 2016 Sep;48(9):1071-6
pubmed: 27428751
Nat Genet. 2014 Aug;46(8):881-5
pubmed: 25038753
Psychophysiology. 2014 Dec;51(12):1339-47
pubmed: 25387720
Mol Psychiatry. 2015 Feb;20(1):140-7
pubmed: 25421402
N Engl J Med. 2015 Feb 26;372(9):793-5
pubmed: 25635347
Lancet. 2016 Oct 29;388(10056):2153-2163
pubmed: 27613521
Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):8520-5
pubmed: 27402753
Science. 2018 Jun 22;360(6395):
pubmed: 29930110
Neuron. 2011 Jun 9;70(5):898-907
pubmed: 21658583
Cell. 2018 Jun 14;173(7):1573-1580
pubmed: 29906445
Nature. 2018 Oct;562(7726):268-271
pubmed: 30258228
Neuron. 2010 Oct 21;68(2):192-5
pubmed: 20955926
Am J Hum Genet. 2014 May 1;94(5):677-94
pubmed: 24768552
Nature. 2016 Aug 18;536(7616):338-43
pubmed: 27509850
Cell. 2013 Nov 21;155(5):1008-21
pubmed: 24267887
Nat Genet. 2019 Mar;51(3):431-444
pubmed: 30804558
Nat Genet. 2013 Sep;45(9):984-94
pubmed: 23933821
J Med Genet. 2006 Sep;43(9):729-34
pubmed: 16611748
Cell. 2014 Jul 17;158(2):263-276
pubmed: 24998929
Front Neurosci. 2016 Jun 30;10:300
pubmed: 27445671
Neuron. 2012 Mar 22;73(6):1063-7
pubmed: 22445335
Hum Mol Genet. 2015 Oct 15;24(R1):R24-31
pubmed: 26188008
Nat Commun. 2014 Apr 11;5:3650
pubmed: 24722188
Cell. 2012 Dec 21;151(7):1431-42
pubmed: 23260136
Cell. 2012 Mar 16;148(6):1223-41
pubmed: 22424231
Nat Genet. 2003 Apr;33(4):466-8
pubmed: 12652298
Nat Commun. 2015 Mar 10;6:6404
pubmed: 25752243
Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15
pubmed: 19328872
PLoS Genet. 2013 Mar;9(3):e1003348
pubmed: 23555274
Cell. 2013 Nov 21;155(5):997-1007
pubmed: 24267886
Cell Rep. 2017 Dec 5;21(10):2678-2687
pubmed: 29212016
Stem Cell Reports. 2019 Feb 12;12(2):427-429
pubmed: 30759379
Cell Stem Cell. 2017 Sep 7;21(3):319-331.e8
pubmed: 28803918
Nat Neurosci. 2013 Feb;16(2):201-9
pubmed: 23313911
J Neurosci. 2015 Feb 18;35(7):3190-200
pubmed: 25698753
Am J Hum Genet. 2013 Jul 11;93(1):103-9
pubmed: 23830515
Genes Dev. 2017 Jun 1;31(11):1147-1161
pubmed: 28698298
Nature. 2013 Sep 19;501(7467):373-9
pubmed: 23995685
Nat Neurosci. 2019 Apr;22(4):556-564
pubmed: 30911184
PLoS Genet. 2013;9(8):e1003671
pubmed: 23966865
Nat Genet. 2017 Jul;49(7):978-985
pubmed: 28504703
Am J Hum Genet. 2016 Apr 7;98(4):667-79
pubmed: 27018473
Mol Psychiatry. 2017 Dec;22(12):1664-1672
pubmed: 28761081
Nat Neurosci. 2016 Nov;19(11):1477-1488
pubmed: 27694995
Nature. 2011 May 25;474(7351):380-4
pubmed: 21614001
Stem Cells Dev. 2014 Aug 1;23(15):1777-87
pubmed: 24654675
Science. 2018 Feb 9;359(6376):693-697
pubmed: 29439242
Science. 2018 Dec 7;362(6419):1161-1164
pubmed: 30409806
Dev Neurobiol. 2018 May;78(5):519-530
pubmed: 29575775
Am J Hum Genet. 2015 Sep 3;97(3):445-56
pubmed: 26340334
Mol Autism. 2014 Dec 22;5:57
pubmed: 25874073
Nature. 2010 Jul 15;466(7304):368-72
pubmed: 20531469
Cell. 2017 Jun 15;169(7):1177-1186
pubmed: 28622505
Nat Genet. 2017 Jul;49(7):1107-1112
pubmed: 28530673
Neuron. 2015 Sep 23;87(6):1215-1233
pubmed: 26402605
Nat Neurosci. 2015 Dec;18(12):1707-12
pubmed: 26605881
Neuron. 2012 Sep 20;75(6):1067-80
pubmed: 22998874
Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):E5600-7
pubmed: 26401017
Nature. 2017 May 4;545(7652):54-59
pubmed: 28445465
Bioinformatics. 2019 Apr 15;35(8):1395-1403
pubmed: 30239588
Nat Neurosci. 2018 Dec;21(12):1717-1727
pubmed: 30455454
Am J Psychiatry. 2019 Jan 1;176(1):29-35
pubmed: 30392412
Nat Neurosci. 2017 Apr;20(4):602-611
pubmed: 28263302
Nature. 2012 Aug 23;488(7412):471-5
pubmed: 22914163
Neuron. 2001 Feb;29(2):353-66
pubmed: 11239428
Brain Res. 2011 Mar 22;1380:138-45
pubmed: 20920490
Nat Genet. 2010 Mar;42(3):203-9
pubmed: 20154674
Stem Cell Reports. 2018 Nov 13;11(5):1211-1225
pubmed: 30392976
Nature. 2014 Nov 13;515(7526):209-15
pubmed: 25363760
JAMA Psychiatry. 2016 Jan;73(1):20-30
pubmed: 26629640
Nat Rev Genet. 2000 Oct;1(1):40-7
pubmed: 11262873
Science. 2012 Oct 19;338(6105):394-7
pubmed: 22956686
Schizophr Res. 2014 Mar;153(1-3):231-6
pubmed: 24534796
Biol Psychiatry. 2016 Jul 15;80(2):129-139
pubmed: 26742926
Cell. 2011 Jul 22;146(2):247-61
pubmed: 21784246
Nature. 2014 Nov 13;515(7526):216-21
pubmed: 25363768
Mol Psychiatry. 2016 Feb;21(2):178-88
pubmed: 26347316
Nature. 2013 Nov 14;503(7475):267-71
pubmed: 24132240
BMC Bioinformatics. 2008 Dec 29;9:559
pubmed: 19114008
Nat Genet. 2015 Jun;47(6):582-8
pubmed: 25961944
Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13129-34
pubmed: 20615956
J Med Genet. 2014 Jan;51(1):10-20
pubmed: 24101678
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77
pubmed: 25294932
Neuron. 2012 Apr 26;74(2):285-99
pubmed: 22542183
Elife. 2019 Feb 12;8:
pubmed: 30747104
Science. 2008 Jul 11;321(5886):218-23
pubmed: 18621663
Nat Commun. 2014 Dec 10;5:5748
pubmed: 25494366
J Med Genet. 2006 Oct;43(10):822-8
pubmed: 16284256
Science. 2016 May 6;352(6286):aaf2669
pubmed: 26966193
Genome Res. 2016 Aug;26(8):1013-22
pubmed: 27325115
J Med Genet. 2012 Dec;49(12):731-6
pubmed: 23099646
Neuron. 2015 Feb 18;85(4):742-54
pubmed: 25695269
Hum Mol Genet. 1999 Jan;8(1):129-35
pubmed: 9887341
Cell. 2010 Nov 12;143(4):527-39
pubmed: 21074045
Mol Psychiatry. 2017 Jun;22(6):820-835
pubmed: 27378147
Genes Dev. 2015 Oct 15;29(20):2081-96
pubmed: 26494785
Nature. 2012 Apr 04;485(7397):237-41
pubmed: 22495306
Neuron. 2018 Feb 7;97(3):488-493
pubmed: 29420931
J Med Genet. 2005 Apr;42(4):318-21
pubmed: 15805158
Science. 2007 Apr 20;316(5823):445-9
pubmed: 17363630
Nat Neurosci. 2016 Mar;19(3):420-431
pubmed: 26854805
Nat Rev Neurosci. 2007 May;8(5):331-40
pubmed: 17453014
Mol Autism. 2017 May 22;8:21
pubmed: 28540026
Front Cell Neurosci. 2013 Mar 26;7:28
pubmed: 23533374
Neuron. 2013 Jan 23;77(2):259-73
pubmed: 23352163

Auteurs

Lilia M Iakoucheva (LM)

University of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA.

Alysson R Muotri (AR)

University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, La Jolla, CA 92093, USA; University of California San Diego, Kavli Institute for Brain and Mind, La Jolla, CA 92093, USA; Center for Academic Research and Training in Anthropogeny (CARTA), La Jolla, CA 92093, USA.

Jonathan Sebat (J)

University of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, Beyster Center for Psychiatric Genomics, La Jolla, CA 92093. Electronic address: jsebat@ucsd.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Getting to the Cores of Autism.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Getting to the Cores of Autism.
questionsmedicales.fr › Cellules › Cellules cultivées › Getting to the Cores of Autism.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Getting to the Cores of Autism.
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Getting to the Cores of Autism.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Séquences d'acides nucléiques régulatrices › Réseaux de régulation génique › Getting to the Cores of Autism.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Getting to the Cores of Autism.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Getting to the Cores of Autism.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité multifactorielle › Getting to the Cores of Autism.
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Neurogenèse › Getting to the Cores of Autism.