Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

Actins / genetics Adenosine Triphosphate / genetics Animals Autism Spectrum Disorder / genetics Behavior, Animal / physiology Chromatin / genetics Chromatin Assembly and Disassembly / genetics Chromosomal Proteins, Non-Histone / genetics Chromosome Pairing / genetics Corpus Callosum / metabolism DNA-Binding Proteins / genetics Dendrites / genetics Disease Models, Animal Gene Expression Regulation / genetics Hippocampus / metabolism Humans Mice Mice, Knockout Mutation / genetics Neurons / metabolism Transcription Factors / genetics
BAF activity dependent autism mouse model recessive

Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
05 05 2020
Historique:
pubmed: 22 4 2020
medline: 29 7 2020
entrez: 22 4 2020
Statut: ppublish

Résumé

Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit

Identifiants

DOI: 10.1073/pnas.1908238117 PMID: 32312822 PMC: PMC7211998
pubmed: 32312822
pii: 1908238117
doi: 10.1073/pnas.1908238117
pmc: PMC7211998
doi:

Substances chimiques

Actins 0
Actl6b protein, mouse 0
Chromatin 0
Chromosomal Proteins, Non-Histone 0
DNA-Binding Proteins 0
Transcription Factors 0
Adenosine Triphosphate 8L70Q75FXE

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

10055-10066

Subventions

Organisme : NHGRI NIH HHS
ID : U54 HG006504
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIDA NIH HHS
ID : P50 DA042012
Pays : United States
Organisme : NINDS NIH HHS
ID : R37 NS046789
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS048453
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003067
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA163915
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008666
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007790
Pays : United States
Organisme : NIMH NIH HHS
ID : F31 MH116588
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC005982
Pays : United States

Informations de copyright

Copyright © 2020 the Author(s). Published by PNAS.

Déclaration de conflit d'intérêts

Competing interest statement: G.R.C. is a founder of Foghorn Therapeutics.

Références

JAMA Psychiatry. 2019 Jul 17;:
pubmed: 31314057
Hum Mol Genet. 2013 Dec 20;22(25):5121-35
pubmed: 23906836
Dev Neurobiol. 2016 Aug;76(8):882-99
pubmed: 26579598
Mol Cell. 2019 Sep 5;75(5):891-904.e7
pubmed: 31375262
Science. 2004 Jan 9;303(5655):197-202
pubmed: 14716005
Nature. 2012 Apr 04;485(7397):242-5
pubmed: 22495311
Nat Genet. 2016 Sep;48(9):1071-6
pubmed: 27428751
Nat Neurosci. 2017 Sep;20(9):1217-1224
pubmed: 28714951
Neuron. 2007 Oct 4;56(1):94-108
pubmed: 17920018
Mol Biol Cell. 2005 Dec;16(12):5736-48
pubmed: 16195354
Hippocampus. 2001;11(6):763-75
pubmed: 11811671
Mol Cell Biol. 2015 Oct 12;36(1):70-83
pubmed: 26459759
Cold Spring Harb Perspect Med. 2016 Aug 01;6(8):
pubmed: 27413115
Am J Hum Genet. 2017 Sep 7;101(3):369-390
pubmed: 28867142
Nat Neurosci. 2011 Jun;14(6):757-62
pubmed: 21516101
Nat Neurosci. 2013 May;16(5):552-61
pubmed: 23525042
BMC Bioinformatics. 2013 Apr 15;14:128
pubmed: 23586463
Genesis. 2015 Jul;53(7):440-8
pubmed: 26077106
Mol Cell. 2010 Feb 26;37(4):457-68
pubmed: 20188665
Neuron. 2008 Dec 10;60(5):775-87
pubmed: 19081374
Cereb Cortex. 2018 Apr 1;28(4):1141-1153
pubmed: 28184409
Sci Rep. 2016 May 27;6:26597
pubmed: 27229316
Neuron. 1998 Feb;20(2):207-20
pubmed: 9491983
Nat Genet. 2017 Feb;49(2):282-288
pubmed: 27941795
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):333-49
pubmed: 25195934
Nat Genet. 2017 Nov;49(11):1613-1623
pubmed: 28945250
J Neurosci. 2017 Mar 29;37(13):3686-3697
pubmed: 28270570
Cell. 2016 Dec 1;167(6):1481-1494.e18
pubmed: 27912058
J Neurosci. 2013 Jun 19;33(25):10348-61
pubmed: 23785148
Front Mol Neurosci. 2017 Aug 03;10:243
pubmed: 28824374
Nat Genet. 2017 Feb;49(2):213-222
pubmed: 27941796
Sci Signal. 2009 May 26;2(72):re3
pubmed: 19471024
Am J Med Genet A. 2019 Aug;179(8):1603-1608
pubmed: 31134736
Nat Genet. 2012 Mar 18;44(4):376-8
pubmed: 22426308
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Autism Res. 2012 Jun;5(3):160-79
pubmed: 22495912
Am J Hum Genet. 2018 Mar 1;102(3):468-479
pubmed: 29429572
Lancet Neurol. 2015 May;14(5):532-46
pubmed: 25769423
J Hum Genet. 2015 Mar;60(3):147-50
pubmed: 25518740
Nat Genet. 2018 Jul;50(7):1048-1053
pubmed: 29942082
Learn Mem. 2013 Jan 15;20(2):85-96
pubmed: 23322557
Nature. 2009 Jul 30;460(7255):642-6
pubmed: 19561591
Transl Psychiatry. 2016 May 10;6:e802
pubmed: 27163203
Nature. 2017 Feb 23;542(7642):433-438
pubmed: 28135719
Nat Protoc. 2006;1(6):2583-9
pubmed: 17406512
Mol Autism. 2013 Oct 03;4(1):36
pubmed: 24090431
Neural Dev. 2011 Feb 01;6:5
pubmed: 21284845
Am J Hum Genet. 2016 Oct 6;99(4):912-916
pubmed: 27616480
Hum Genet. 2017 Mar;136(3):297-305
pubmed: 28124119
Genet Med. 2019 Mar;21(3):736-742
pubmed: 30237576
Neurotherapeutics. 2015 Jul;12(3):521-33
pubmed: 26036957
Neuropsychopharmacology. 2016 Oct;41(11):2733-40
pubmed: 27272767
Am J Hum Genet. 2016 Aug 4;99(2):253-74
pubmed: 27453576
Neuron. 2007 Jul 19;55(2):201-15
pubmed: 17640523
Nat Methods. 2013 Dec;10(12):1213-8
pubmed: 24097267
Am J Med Genet A. 2013 Jun;161A(6):1221-37
pubmed: 23637025
Nat Commun. 2016 May 26;7:11725
pubmed: 27226355
Proc Natl Acad Sci U S A. 2020 May 5;117(18):10055-10066
pubmed: 32312822
Nat Methods. 2018 Jan 3;15(1):27-29
pubmed: 29298289
Hum Mutat. 2017 Oct;38(10):1365-1371
pubmed: 28649782
Elife. 2017 Jul 11;6:
pubmed: 28695822
Nature. 2015 Mar 12;519(7542):223-8
pubmed: 25533962
Curr Protoc Pharmacol. 2014 Sep 02;66:5.66.1-26
pubmed: 25181011
Genes Dev. 2002 Oct 1;16(19):2509-17
pubmed: 12368262
Front Psychiatry. 2017 Jan 04;7:205
pubmed: 28101064
Cell. 2013 Mar 28;153(1):71-85
pubmed: 23540691
Neuron. 2018 Oct 24;100(2):330-348
pubmed: 30359600
Science. 2012 Oct 19;338(6105):394-7
pubmed: 22956686
MMWR Surveill Summ. 2018 Apr 27;67(6):1-23
pubmed: 29701730
Nat Genet. 2019 Jul;51(7):1092-1098
pubmed: 31209396
Am J Hum Genet. 2015 Mar 5;96(3):498-506
pubmed: 25728775
Nat Struct Mol Biol. 2017 Apr;24(4):344-352
pubmed: 28250416
Nucleic Acids Res. 2016 Jul 8;44(W1):W90-7
pubmed: 27141961
Brain Res. 1986 May 7;372(2):345-51
pubmed: 3486694
Genet Med. 2017 Jan;19(1):13-19
pubmed: 27171548
Genet Med. 2019 Nov;21(11):2504-2511
pubmed: 31036916
Neuron. 2015 Jul 1;87(1):77-94
pubmed: 26139371
Cold Spring Harb Perspect Biol. 2014 Dec 04;7(1):a021741
pubmed: 25475090
Nature. 2018 Aug;560(7720):589-594
pubmed: 30089910
Am J Hum Genet. 2017 Dec 7;101(6):1021-1033
pubmed: 29220674
Neuron. 2015 Nov 4;88(3):499-513
pubmed: 26539891
Elife. 2016 Jul 13;5:
pubmed: 27410475
Nat Rev Neurol. 2014 Feb;10(2):74-81
pubmed: 24468882
Cell. 2007 Jan 26;128(2):399-410
pubmed: 17254975
Front Behav Neurosci. 2015 Apr 23;9:100
pubmed: 25954173
Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):6820-7
pubmed: 25538301
Am J Hum Genet. 2019 May 2;104(5):815-834
pubmed: 31031012
Am J Hum Genet. 2019 Apr 4;104(4):596-610
pubmed: 30879640
Front Cell Neurosci. 2019 Aug 20;13:385
pubmed: 31481879
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26
pubmed: 25169753
Am J Hum Genet. 2017 Sep 7;101(3):478-484
pubmed: 28867141
Neuroimage Clin. 2018 Jun 09;19:848-857
pubmed: 29946510
Hum Genet. 2019 Feb;138(2):187-198
pubmed: 30656450
Nat Neurosci. 2008 Jan;11(1):103-7
pubmed: 18066057
Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5181-6
pubmed: 19279220

Auteurs

Wendy Wenderski (W)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Lu Wang (L)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Andrey Krokhotin (A)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Jessica J Walsh (JJ)

Nancy Pritztker Laboratory, Department of Psychiatry and Behavioral Sciences, Stanford Medical School, Palo Alto, CA 94305.

Hongjie Li (H)

Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.
Department of Biology, Stanford University, Palo Alto, CA 94305.

Hirotaka Shoji (H)

Division of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, 470-1192 Toyoake, Aichi, Japan.
ORCID: 0000-0003-4843-6949

Shereen Ghosh (S)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Renee D George (RD)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Erik L Miller (EL)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Laura Elias (L)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Mark A Gillespie (MA)

Institute for Systems Biology, Seattle, WA 98109.

Esther Y Son (EY)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Brett T Staahl (BT)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Seung Tae Baek (ST)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Valentina Stanley (V)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Cynthia Moncada (C)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Zohar Shipony (Z)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Sara B Linker (SB)

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.

Maria C N Marchetto (MCN)

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.

Fred H Gage (FH)

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA 92037.
ORCID: 0000-0002-0938-4106

Dillon Chen (D)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.

Tipu Sultan (T)

Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, 54000 Lahore, Pakistan.

Maha S Zaki (MS)

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.

Jeffrey A Ranish (JA)

Institute for Systems Biology, Seattle, WA 98109.

Tsuyoshi Miyakawa (T)

Division of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, 470-1192 Toyoake, Aichi, Japan.
ORCID: 0000-0003-0137-8200

Liqun Luo (L)

Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.
Department of Biology, Stanford University, Palo Alto, CA 94305.
ORCID: 0000-0001-5467-9264

Robert C Malenka (RC)

Nancy Pritztker Laboratory, Department of Psychiatry and Behavioral Sciences, Stanford Medical School, Palo Alto, CA 94305.

Gerald R Crabtree (GR)

Department of Pathology, Stanford Medical School, Palo Alto, CA 94305; crabtree@stanford.edu jogleeson@ucsd.edu.
Department of Genetics, Stanford Medical School, Palo Alto, CA 94305.
Department of Developmental Biology, Stanford Medical School, Palo Alto, CA 94305.
Howard Hughes Medical Institute, Stanford University, Palo Alto, CA 94305.

Joseph G Gleeson (JG)

Department of Neuroscience, University of California San Diego, La Jolla, CA 92037; crabtree@stanford.edu jogleeson@ucsd.edu.
Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA 92037.
Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92037.
ORCID: 0000-0002-0889-9220

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Actines › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Ribonucléotides › Nucléotides adényliques › Adénosine triphosphate › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Eucaryotes › Animaux › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Comportement et mécanismes comportementaux › Comportement › Comportement animal › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Chromatine › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Phénomènes génétiques › Régulation de l'expression des gènes › Assemblage et désassemblage de la chromatine › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines chromosomiques nonhistones › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Phénomènes génétiques › Division du noyau cellulaire › Mitose › Prophase › Appariement des chromosomes › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Commissures du télencéphale › Corps calleux › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Cellules › Neurones › Dendrites › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Phénomènes génétiques › Régulation de l'expression des gènes › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Cerveau › Cortex cérébral › Hippocampe › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Cellules › Neurones › Loss of the neural-specific BAF subunit ACTL6B...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Loss of the neural-specific BAF subunit ACTL6B...