Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development.
Animals
Behavior, Animal
Brain
/ diagnostic imaging
Exploratory Behavior
Fear
Female
Gait
Haploinsufficiency
Learning
Magnetic Resonance Imaging
Male
Mice, Mutant Strains
Motor Skills
Neurodevelopmental Disorders
/ diagnostic imaging
Recognition, Psychology
Social Behavior
Transcription Factors
/ genetics
Vocalization, Animal
Arid1b
Autism
Behavior
Coffin–Siris syndrome
Magnetic resonance imaging
Mouse
Journal
Molecular autism
ISSN: 2040-2392
Titre abrégé: Mol Autism
Pays: England
ID NLM: 101534222
Informations de publication
Date de publication:
23 03 2021
23 03 2021
Historique:
received:
08
10
2020
accepted:
09
03
2021
entrez:
24
3
2021
pubmed:
25
3
2021
medline:
10
11
2021
Statut:
epublish
Résumé
One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive domain 1B (ARID1B), a chromatin modifier, has been linked to autism spectrum disorder and to affect rare and inherited genetic variation in a broad set of NDDs. A novel preclinical mouse model of Arid1b deficiency was created and validated to characterize and define neuroanatomical, behavioral and transcriptional phenotypes. Neuroanatomy was assessed ex vivo in adult animals and in vivo longitudinally from birth to adulthood. Behavioral testing was also performed throughout development and tested all aspects of motor, learning, sociability, repetitive behaviors, seizure susceptibility, and general milestones delays. We validated decreased Arid1b mRNA and protein in Arid1b The behavior and neuroimaging analyses were done on separate cohorts of mice, which did not allow a direct correlation between the imaging and behavioral findings, and the transcriptomic analysis was exploratory, with no validation of altered expression beyond Arid1b. This study represents a full validation and investigation of a novel model of Arid1b
Sections du résumé
BACKGROUND
One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive domain 1B (ARID1B), a chromatin modifier, has been linked to autism spectrum disorder and to affect rare and inherited genetic variation in a broad set of NDDs.
METHODS
A novel preclinical mouse model of Arid1b deficiency was created and validated to characterize and define neuroanatomical, behavioral and transcriptional phenotypes. Neuroanatomy was assessed ex vivo in adult animals and in vivo longitudinally from birth to adulthood. Behavioral testing was also performed throughout development and tested all aspects of motor, learning, sociability, repetitive behaviors, seizure susceptibility, and general milestones delays.
RESULTS
We validated decreased Arid1b mRNA and protein in Arid1b
LIMITATIONS
The behavior and neuroimaging analyses were done on separate cohorts of mice, which did not allow a direct correlation between the imaging and behavioral findings, and the transcriptomic analysis was exploratory, with no validation of altered expression beyond Arid1b.
CONCLUSIONS
This study represents a full validation and investigation of a novel model of Arid1b
Identifiants
pubmed: 33757588
doi: 10.1186/s13229-021-00432-y
pii: 10.1186/s13229-021-00432-y
pmc: PMC7986278
doi:
Substances chimiques
Arid1b protein, mouse
0
Transcription Factors
0
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
25Subventions
Organisme : NINDS NIH HHS
ID : R01 NS097808
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM119831
Pays : United States
Organisme : CIHR
Pays : Canada
Organisme : NIGMS NIH HHS
ID : T32 GM007377
Pays : United States
Références
Neuroimage. 2016 Nov 15;142:687-695
pubmed: 27335314
Curr Protoc Neurosci. 2011 Jul;Chapter 8:Unit 8.26
pubmed: 21732314
Neuroimage. 2015 Sep;118:49-62
pubmed: 26037053
Dis Model Mech. 2010 Mar-Apr;3(3-4):133-5
pubmed: 20212079
Nat Rev Genet. 2013 May;14(5):347-59
pubmed: 23568486
Behav Brain Res. 2015 Jun 1;286:33-8
pubmed: 25721743
Epilepsy Behav. 2019 Dec;101(Pt A):106547
pubmed: 31698263
Nat Neurosci. 2017 Aug;20(8):1062-1073
pubmed: 28671691
Am J Dis Child. 1970 May;119(5):433-9
pubmed: 5442442
Elife. 2017 Jul 11;6:
pubmed: 28695822
Neurosci Biobehav Rev. 2020 Sep;116:452-453
pubmed: 32681939
Nat Neurosci. 2017 Dec;20(12):1744-1751
pubmed: 29184200
Psychiatry Clin Neurosci. 1998 Dec;52 Suppl:S219-22
pubmed: 9895151
Neuroimage. 2008 Jan 1;39(1):32-9
pubmed: 17942324
Magn Reson Med. 2003 Jan;49(1):158-67
pubmed: 12509832
Autism Res. 2011 Oct;4(5):368-76
pubmed: 21882360
Nat Neurosci. 2017 Dec;20(12):1694-1707
pubmed: 29184203
Anim Behav. 1965 Apr-Jul;13(2):234-41
pubmed: 5835840
Behav Brain Res. 2001 Nov 1;125(1-2):49-56
pubmed: 11682093
Neurobiol Learn Mem. 2019 Nov;165:106874
pubmed: 29800646
Neuroimage. 2002 Apr;15(4):870-8
pubmed: 11906227
Nature. 1977 Jun 23;267(5613):720-1
pubmed: 195224
Physiol Genomics. 2006 Jan 12;24(2):154-62
pubmed: 16410543
Nat Rev Neurosci. 2010 Jul;11(7):490-502
pubmed: 20559336
Int J Mol Sci. 2017 Aug 30;18(9):
pubmed: 28867767
Methods Mol Biol. 2011;711:349-61
pubmed: 21279611
Mol Psychiatry. 2014 Jan;19(1):99-107
pubmed: 23999526
Genes Brain Behav. 2011 Feb;10(1):44-56
pubmed: 20618443
Neuroimage. 2011 Oct 1;58(3):732-40
pubmed: 21704710
Front Neuroinform. 2012 Mar 23;6:6
pubmed: 22470335
Neuroimage. 2012 Apr 2;60(2):933-9
pubmed: 22305951
Curr Opin Neurol. 2018 Apr;31(2):126-133
pubmed: 29493556
Cell Tissue Res. 2016 Oct;366(1):1-11
pubmed: 27184948
Neuroimage. 2008 Aug 1;42(1):60-9
pubmed: 18502665
Curr Protoc Mouse Biol. 2016 Dec 1;6(4):364-379
pubmed: 27906464
Curr Protoc Toxicol. 2006;Chapter 13:Unit13.12
pubmed: 23045127
Nat Commun. 2018 Jul 5;9(1):2615
pubmed: 29976930
Neuroscience. 2017 Mar 14;345:155-165
pubmed: 27189882
Front Psychiatry. 2012 Apr 26;3:37
pubmed: 22557981
Neurobiol Dis. 2014 Sep;69:65-75
pubmed: 24801365
Cereb Cortex. 2018 Jun 1;28(6):2192-2206
pubmed: 29668850
Cereb Cortex. 2018 Jul 1;28(7):2495-2506
pubmed: 29901787
J Comput Assist Tomogr. 1994 Mar-Apr;18(2):192-205
pubmed: 8126267
Autism Res. 2014 Feb;7(1):124-37
pubmed: 24151012
Eur J Hum Genet. 2011 Jun;19(6):727-31
pubmed: 21448237
Neurotherapeutics. 2015 Jul;12(3):521-33
pubmed: 26036957
Nat Neurosci. 2013 Aug;16(8):1101-10
pubmed: 23831965
Physiol Behav. 2012 Dec 5;107(5):666-9
pubmed: 22234243
Transl Psychiatry. 2014 Nov 11;4:e480
pubmed: 25386957
Nat Neurosci. 2018 Sep;21(9):1218-1228
pubmed: 30104731
Med Image Anal. 2008 Feb;12(1):26-41
pubmed: 17659998
Am J Med Genet. 2001 Apr 22;100(2):152-5
pubmed: 11298377
Curr Opin Neurobiol. 2018 Feb;48:106-112
pubmed: 29222989
Neuroimage. 2011 Feb 1;54(3):2033-44
pubmed: 20851191
Neuron. 2019 Feb 20;101(4):648-661.e4
pubmed: 30679017
Hum Mol Genet. 2017 Oct 15;26(20):3995-4010
pubmed: 29016856
NMR Biomed. 2017 Nov;30(11):
pubmed: 28902423
Am J Dis Child. 1978 Apr;132(4):393-5
pubmed: 645658
Neuroimage. 2010 Nov 15;53(3):1023-9
pubmed: 20304074
Transl Psychiatry. 2018 May 25;8(1):106
pubmed: 29802263
Magn Reson Med. 2009 May;61(5):1148-57
pubmed: 19253389
Arch Neurol. 1985 Apr;42(4):350-3
pubmed: 3985811
Mol Psychiatry. 2015 Feb;20(1):118-25
pubmed: 25199916
Neuroimage. 2013 Sep;78:196-203
pubmed: 23587687
Am J Hum Genet. 2012 Mar 9;90(3):565-72
pubmed: 22405089
N Engl J Med. 1988 May 26;318(21):1349-54
pubmed: 3367935
Neurotoxicol Teratol. 2015 Jan-Feb;47:36-45
pubmed: 25446016
Dev Psychobiol. 1998 Nov;33(3):249-56
pubmed: 9810475
Neuropsychopharmacology. 2015 Aug;40(9):2228-39
pubmed: 25754761
Clin Genet. 2012 Sep;82(3):248-55
pubmed: 21801163
Mol Autism. 2017 Jun 15;8:26
pubmed: 28638591
Cell. 2020 Feb 6;180(3):568-584.e23
pubmed: 31981491
Nat Protoc. 2013 Oct;8(10):1961-84
pubmed: 24051959
Epilepsy Res. 1996 Dec;26(1):105-13
pubmed: 8985692