Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.
Animals
Autism Spectrum Disorder
/ genetics
Behavior, Animal
Cognitive Dysfunction
/ genetics
Disease Models, Animal
Female
Interpersonal Relations
Male
Mice
Mice, Knockout
Nerve Tissue Proteins
/ genetics
Neurons
/ metabolism
SAP90-PSD95 Associated Proteins
/ genetics
Social Behavior
Synapses
/ metabolism
Journal
Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664
Informations de publication
Date de publication:
16 01 2019
16 01 2019
Historique:
received:
06
03
2018
accepted:
08
11
2018
revised:
20
09
2018
entrez:
22
1
2019
pubmed:
22
1
2019
medline:
14
6
2019
Statut:
epublish
Résumé
In humans, genetic variants of DLGAP1-4 have been linked with neuropsychiatric conditions, including autism spectrum disorder (ASD). While these findings implicate the encoded postsynaptic proteins, SAPAP1-4, in the etiology of neuropsychiatric conditions, underlying neurobiological mechanisms are unknown. To assess the contribution of SAPAP4 to these disorders, we characterized SAPAP4-deficient mice. Our study reveals that the loss of SAPAP4 triggers profound behavioural abnormalities, including cognitive deficits combined with impaired vocal communication and social interaction, phenotypes reminiscent of ASD in humans. These behavioural alterations of SAPAP4-deficient mice are associated with dramatic changes in synapse morphology, function and plasticity, indicating that SAPAP4 is critical for the development of functional neuronal networks and that mutations in the corresponding human gene, DLGAP4, may cause deficits in social and cognitive functioning relevant to ASD-like neurodevelopmental disorders.
Identifiants
pubmed: 30664629
doi: 10.1038/s41398-018-0327-z
pii: 10.1038/s41398-018-0327-z
pmc: PMC6341115
doi:
Substances chimiques
Dlgap4 protein, mouse
0
Nerve Tissue Proteins
0
SAP90-PSD95 Associated Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
7Références
Behav Brain Res. 2003 Oct 17;145(1-2):189-207
pubmed: 14529817
Nat Rev Neurosci. 2017 Mar;18(3):147-157
pubmed: 28179641
Transl Psychiatry. 2015 Mar 10;5:e525
pubmed: 25756808
Neuron. 2013 Apr 10;78(1):8-27
pubmed: 23583105
Neural Plast. 2017;2017:8081758
pubmed: 28331639
Clin Genet. 2010 Nov;78(5):449-56
pubmed: 20236125
Autism Res. 2016 Jun;9(6):696-709
pubmed: 26419918
EMBO J. 2012 Mar 7;31(5):1203-16
pubmed: 22234183
Nature. 2007 Aug 23;448(7156):894-900
pubmed: 17713528
Neuron. 2011 Jul 28;71(2):332-47
pubmed: 21791291
PLoS One. 2011;6(11):e28044
pubmed: 22132206
J Comp Neurol. 2004 Apr 19;472(1):24-39
pubmed: 15024750
Neural Comput. 2002 Jun;14(6):1283-310
pubmed: 12020447
PLoS Genet. 2014 Sep 04;10(9):e1004580
pubmed: 25188300
Pharmacol Rep. 2014 Oct;66(5):830-5
pubmed: 25149987
Nat Rev Neurosci. 2013 Jun;14(6):383-400
pubmed: 23686171
PLoS One. 2011;6(6):e20631
pubmed: 21695253
Philos Trans R Soc Lond B Biol Sci. 2013 Dec 02;369(1633):20130163
pubmed: 24298164
J Cell Sci. 2010 Mar 15;123(Pt 6):819-23
pubmed: 20200227
Dialogues Clin Neurosci. 2011;13(4):495-506
pubmed: 22275854
Nat Rev Neurosci. 2010 Jul;11(7):490-502
pubmed: 20559336
Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):108-14
pubmed: 21184590
J Biol Chem. 2009 Sep 18;284(38):25479-87
pubmed: 19640847
Nature. 2011 Apr 28;472(7344):437-42
pubmed: 21423165
PLoS One. 2007 Apr 04;2(4):e351
pubmed: 17406675
J Neurosci. 2011 Nov 16;31(46):16685-91
pubmed: 22090495
Methods Mol Biol. 2009;530:463-509
pubmed: 19266331
Sci Rep. 2018 Feb 2;8(1):2281
pubmed: 29396406
Neuron. 2006 Nov 9;52(3):437-44
pubmed: 17088210
Mol Autism. 2013 Aug 01;4(1):26
pubmed: 23915500
Neuropsychiatr Dis Treat. 2015 Apr 01;11:897-905
pubmed: 25897225
Methods Mol Biol. 2012;846:277-93
pubmed: 22367819
Nature. 2012 Jun 13;486(7402):261-5
pubmed: 22699620
Brain Res Mol Brain Res. 2004 Jul 5;126(1):14-21
pubmed: 15207911
Nature. 2001 Jun 14;411(6839):801-5
pubmed: 11459059
Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1710-5
pubmed: 18227507
Biol Psychiatry. 2016 Oct 1;80(7):522-33
pubmed: 27436084
Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(8):949-59
pubmed: 21990008
PLoS One. 2014 Jan 08;9(1):e85373
pubmed: 24416398
Nat Med. 2016 Apr;22(4):345-61
pubmed: 27050589
Science. 2007 Oct 5;318(5847):71-6
pubmed: 17823315
Neuropharmacology. 2016 Jun;105:84-95
pubmed: 26772969
Front Neural Circuits. 2014 May 27;8:50
pubmed: 24904296
Biol Psychiatry. 2014 Apr 15;75(8):623-30
pubmed: 23414593
Nature. 2010 Jul 15;466(7304):368-72
pubmed: 20531469
Cold Spring Harb Perspect Biol. 2011 Dec 01;3(12):
pubmed: 22046028
J Neurosci. 2016 Mar 30;36(13):3676-90
pubmed: 27030754
Neuron. 2014 Aug 20;83(4):894-905
pubmed: 25088363
Mol Autism. 2015 Mar 08;6:13
pubmed: 25901271
Am J Med Genet A. 2017 Jun;173(6):1656-1662
pubmed: 28407363
J Biol Chem. 1997 May 2;272(18):11943-51
pubmed: 9115257
Genes Brain Behav. 2009 Jun;8(4):416-25
pubmed: 19243448
Sci Signal. 2009 Apr 28;2(68):ra19
pubmed: 19401593
Behav Pharmacol. 2015 Sep;26(6):506-21
pubmed: 26221830
Mol Autism. 2014 May 01;5:32
pubmed: 25071926
Biol Lett. 2015 Mar;11(3):
pubmed: 25808003
Nature. 2014 Nov 13;515(7526):209-15
pubmed: 25363760
Neuroscience. 1999;93(1):243-51
pubmed: 10430488
Adv Exp Med Biol. 2012;970:29-61
pubmed: 22351050
Behav Brain Res. 2013 Aug 15;251:5-17
pubmed: 23769995
Mol Psychiatry. 2009 Jan;14(1):6-9
pubmed: 19096451
J Neurosci. 2005 Jun 29;25(26):6037-46
pubmed: 15987933
Nat Rev Neurosci. 2015 Sep;16(9):551-63
pubmed: 26289574
Nature. 2012 Apr 29;486(7402):256-60
pubmed: 22699619
Hum Mol Genet. 2014 Dec 1;23(23):6163-76
pubmed: 24986922
Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13764-9
pubmed: 21808020
Phys Life Rev. 2015 Jun;13:77-9
pubmed: 25912770
Front Cell Neurosci. 2014 Sep 11;8:276
pubmed: 25309321
Front Hum Neurosci. 2013 Sep 27;7:609
pubmed: 24098278
Methods. 2011 Feb;53(2):120-35
pubmed: 20708688
Cell. 2014 Jul 3;158(1):198-212
pubmed: 24995986
Dev Neurobiol. 2014 Feb;74(2):113-22
pubmed: 24124131
J Neurosci. 2010 Feb 10;30(6):2115-29
pubmed: 20147539
Neuron. 2000 Oct;28(1):41-51
pubmed: 11086982
Neurochem Res. 2013 Jan;38(1):1-22
pubmed: 22991141
Nucleic Acids Res. 2003 Jan 1;31(1):278-81
pubmed: 12520002
J Biol Chem. 2009 Apr 3;284(14):9225-36
pubmed: 19208628