دورية أكاديمية
أعرض في EDS

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons.

التفاصيل البيبلوغرافية
العنوان: Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons.
المؤلفون: DeRosa BA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; Department of Medical & Molecular Genetics, Oregon Health & Science University, Portland, Oregon, 97239, USA., El Hokayem J; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Artimovich E; The Hussman Institute for Autism, Baltimore, Maryland, 21229, USA., Garcia-Serje C; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Phillips AW; The Hussman Institute for Autism, Baltimore, Maryland, 21229, USA., Van Booven D; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Nestor JE; The Hussman Institute for Autism, Baltimore, Maryland, 21229, USA., Wang L; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Cuccaro ML; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Vance JM; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Cukier HN; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA., Nestor MW; The Hussman Institute for Autism, Baltimore, Maryland, 21229, USA. mnestor@hussmanautism.org., Dykxhoorn DM; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA. DDykxhoorn@med.miami.edu.; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA. DDykxhoorn@med.miami.edu.
المصدر: Scientific reports [Sci Rep] 2018 May 30; Vol. 8 (1), pp. 8423. Date of Electronic Publication: 2018 May 30.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Gene Expression Profiling*, Autistic Disorder/*genetics , Autistic Disorder/*pathology , Neurons/*metabolism, Adolescent ; Calcium Signaling ; Cell Differentiation ; Cell Movement ; Child ; Child, Preschool ; Humans ; Induced Pluripotent Stem Cells/cytology ; Induced Pluripotent Stem Cells/metabolism ; Male ; Neurons/pathology ; Synapses/pathology ; Young Adult
مستخلص: Potentially pathogenic alterations have been identified in individuals with autism spectrum disorders (ASDs) within a variety of key neurodevelopment genes. While this hints at a common ASD molecular etiology, gaps persist in our understanding of the neurodevelopmental mechanisms impacted by genetic variants enriched in ASD patients. Induced pluripotent stem cells (iPSCs) can model neurodevelopment in vitro, permitting the characterization of pathogenic mechanisms that manifest during corticogenesis. Taking this approach, we examined the transcriptional differences between iPSC-derived cortical neurons from patients with idiopathic ASD and unaffected controls over a 135-day course of neuronal differentiation. Our data show ASD-specific misregulation of genes involved in neuronal differentiation, axon guidance, cell migration, DNA and RNA metabolism, and neural region patterning. Furthermore, functional analysis revealed defects in neuronal migration and electrophysiological activity, providing compelling support for the transcriptome analysis data. This study reveals important and functionally validated insights into common processes altered in early neuronal development and corticogenesis and may contribute to ASD pathogenesis.
التعليقات: Erratum in: Sci Rep. 2022 Feb 24;12(1):3445. (PMID: 35210532)
References: Neurochem Res. 2012 Feb;37(2):394-400. (PMID: 21984201)
Hum Mol Genet. 2012 Aug 1;21(15):3513-23. (PMID: 22543975)
Cell. 2010 Nov 12;143(4):527-39. (PMID: 21074045)
Mol Psychiatry. 2017 Jun;22(6):820-835. (PMID: 27378147)
PLoS One. 2013;8(3):e59685. (PMID: 23536886)
Nat Rev Mol Cell Biol. 2009 Aug;10(8):538-49. (PMID: 19603038)
Cell Rep. 2014 Nov 20;9(4):1173-82. (PMID: 25456120)
J Coll Physicians Surg Pak. 2015 Dec;25(12):882-5. (PMID: 26691363)
Ann Hum Genet. 2009 May;73(Pt 3):263-73. (PMID: 19456320)
Nat Rev Neurosci. 2015 Aug;16(8):487-97. (PMID: 26152865)
Transl Psychiatry. 2016 Aug 02;6(8):e864. (PMID: 27483382)
Cell Stem Cell. 2010 May 7;6(5):407-11. (PMID: 20452313)
Biophys J. 2009 Sep 16;97(6):1558-68. (PMID: 19751660)
Nature. 2009 May 28;459(7246):569-73. (PMID: 19404257)
Nucleic Acids Res. 2013 Jan;41(Database issue):D996-D1008. (PMID: 23193282)
Neuron. 2011 Jun 9;70(5):898-907. (PMID: 21658583)
Annu Rev Genomics Hum Genet. 2013;14:191-213. (PMID: 23875794)
Nature. 2006 Dec 7;444(7120):707-12. (PMID: 17151658)
Cell. 2013 Nov 21;155(5):1008-21. (PMID: 24267887)
J Clin Gastroenterol. 1995;21 Suppl 1:S40-4. (PMID: 8774989)
Science. 2005 Nov 4;310(5749):805-10. (PMID: 16272112)
Trends Neurosci. 1997 Nov;20(11):523-9. (PMID: 9364667)
Nat Neurosci. 2008 Nov;11(11):1271-82. (PMID: 18849986)
Cereb Cortex. 2011 May;21(5):1192-202. (PMID: 20966045)
Brain. 1998 May;121 ( Pt 5):889-905. (PMID: 9619192)
Neuron. 2006 Feb 16;49(4):563-75. (PMID: 16476665)
Neurology. 2002 Feb 12;58(3):428-32. (PMID: 11839843)
Neuron. 2004 Sep 2;43(5):647-61. (PMID: 15339647)
Nat Rev Neurosci. 2010 Jan;11(1):18-29. (PMID: 19953103)
Stem Cells. 2007 Dec;25(12):3016-25. (PMID: 17823239)
J Alzheimers Dis Parkinsonism. 2016 Oct;6(5):. (PMID: 27882265)
Cell. 1998 May 29;93(5):755-66. (PMID: 9630220)
Nature. 2009 Oct 15;461(7266):908-15. (PMID: 19829370)
Am J Hum Genet. 2012 Jul 13;91(1):38-55. (PMID: 22726847)
Neuron. 2002 Feb 14;33(4):573-86. (PMID: 11856531)
Trends Neurosci. 2001 Jun;24(6):353-60. (PMID: 11356508)
Stem Cell Res. 2013 May;10(3):454-63. (PMID: 23500645)
Nat Neurosci. 2009 Jan;12(1):15-20. (PMID: 19029886)
N Engl J Med. 2014 Mar 27;370(13):1209-1219. (PMID: 24670167)
Acta Neuropathol Commun. 2013 Oct 11;1:67. (PMID: 24252498)
J Autism Dev Disord. 2001 Apr;31(2):247-8. (PMID: 11450824)
Trends Mol Med. 2012 Aug;18(8):463-71. (PMID: 22771169)
Curr Opin Neurobiol. 1999 Feb;9(1):94-104. (PMID: 10072366)
Nat Neurosci. 2016 Nov;19(11):1463-1476. (PMID: 27571009)
PLoS One. 2014 Jul 29;9(7):e103418. (PMID: 25072157)
Hum Mol Genet. 2012 Oct 1;21(19):4171-86. (PMID: 22730494)
Cell. 2003 Apr 4;113(1):11-23. (PMID: 12679031)
Nat Protoc. 2007;2(2):329-33. (PMID: 17406593)
Nature. 2011 May 25;474(7351):380-4. (PMID: 21614001)
Genome Res. 2003 Nov;13(11):2498-504. (PMID: 14597658)
Science. 2000 Oct 27;290(5492):754-8. (PMID: 11052932)
J Neurosci. 2005 May 4;25(18):4605-15. (PMID: 15872108)
Mol Autism. 2014 Jan 10;5(1):1. (PMID: 24410847)
Mol Neurobiol. 2017 Aug;54(6):4507-4523. (PMID: 27356918)
Bioinformatics. 2010 Jan 1;26(1):139-40. (PMID: 19910308)
Curr Opin Neurobiol. 2004 Jun;14(3):297-304. (PMID: 15194109)
Mol Autism. 2015 Oct 19;6:55. (PMID: 26491539)
Cell. 2016 May 19;165(5):1238-1254. (PMID: 27118425)
Autism Res. 2016 May;9(5):513-35. (PMID: 26426199)
Neuron. 2011 Jun 9;70(5):806-8. (PMID: 21658575)
Proc Natl Acad Sci U S A. 1979 Jan;76(1):514-7. (PMID: 284369)
Bioinformatics. 2005 Aug 15;21(16):3448-9. (PMID: 15972284)
Nature. 2016 Dec 15;540(7633):423-427. (PMID: 27919067)
PLoS One. 2011 Jan 31;6(1):e16197. (PMID: 21297961)
Genes Dev. 2005 Jan 1;19(1):1-49. (PMID: 15630019)
Cell. 2011 Jun 10;145(6):831-4. (PMID: 21663789)
Stat Appl Genet Mol Biol. 2005;4:Article17. (PMID: 16646834)
BMC Bioinformatics. 2008 Dec 29;9:559. (PMID: 19114008)
Am J Psychiatry. 1990 Jun;147(6):734-9. (PMID: 2343916)
Nature. 2009 Nov 12;462(7270):213-7. (PMID: 19907493)
PLoS One. 2007 May 09;2(5):e439. (PMID: 17502919)
Nat Neurosci. 2012 Feb 05;15(3):477-86, S1. (PMID: 22306606)
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. (PMID: 25294932)
Nat Commun. 2014 Dec 10;5:5748. (PMID: 25494366)
Brain Res. 2011 Mar 22;1380:42-77. (PMID: 21129364)
Mol Psychiatry. 2015 Mar;20(3):361-8. (PMID: 24686136)
Nat Neurosci. 2007 Jan;10(1):19-26. (PMID: 17189949)
Autism Res. 2017 Mar;10(3):439-455. (PMID: 27529825)
Nat Med. 2011 Nov 27;17(12):1657-62. (PMID: 22120178)
تواريخ الأحداث: Date Created: 20180601 Date Completed: 20191011 Latest Revision: 20220225
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC5976773
DOI: 10.1038/s41598-018-26495-1
PMID: 29849033
قاعدة البيانات: MEDLINE
الوصف
تدمد:2045-2322
DOI:10.1038/s41598-018-26495-1