The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.
autism
genetic architecture
genome sequencing
neurodevelopmental disorders
noncoding
regulatory mutations
Journal
Trends in neurosciences
ISSN: 1878-108X
Titre abrégé: Trends Neurosci
Pays: England
ID NLM: 7808616
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
30
08
2018
revised:
01
11
2018
accepted:
14
11
2018
pubmed:
20
12
2018
medline:
20
4
2019
entrez:
20
12
2018
Statut:
ppublish
Résumé
Advances in sequencing technology have significantly expanded our understanding of the genetics of autism and neurodevelopmental disorders (NDDs). Continued technological improvements and cost reductions have now shifted the focus to investigations into the functional noncoding portions of the genome. There is a patient trend toward an excess of de novo and potentially disruptive mutations among conserved noncoding sequences implicated in the regulation of genes. The signals become stronger when restricted to genes already implicated in NDDs, but de novo mutation in such elements is estimated to account for <5% of patients. Larger sample sizes, improved variant detection, functional testing, and better approaches to classify noncoding variation will be required to identify specific pathogenic variants underlying disease.
Identifiants
pubmed: 30563709
pii: S0166-2236(18)30296-0
doi: 10.1016/j.tins.2018.11.002
pmc: PMC6382467
mid: NIHMS1512957
pii:
doi:
Substances chimiques
RNA, Untranslated
0
DNA
9007-49-2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-127Subventions
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIMH NIH HHS
ID : K99 MH117165
Pays : United States
Organisme : NIMH NIH HHS
ID : R00 MH117165
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States
Informations de copyright
Copyright © 2018 Elsevier Ltd. All rights reserved.
Références
Neuron. 2010 Oct 21;68(2):192-5
pubmed: 20955926
Cell. 2012 Dec 21;151(7):1431-42
pubmed: 23260136
Cell. 2018 Jan 11;172(1-2):289-304.e18
pubmed: 29307494
Am J Hum Genet. 2016 Apr 7;98(4):667-79
pubmed: 27018473
Nat Genet. 2018 May;50(5):635-637
pubmed: 29700468
Mol Cell. 2017 Oct 5;68(1):44-59
pubmed: 28985510
Science. 2018 Apr 20;360(6386):327-331
pubmed: 29674594
Nature. 2012 Apr 04;485(7397):246-50
pubmed: 22495309
Nat Genet. 2014 Aug;46(8):881-5
pubmed: 25038753
Nature. 2018 Feb 8;554(7691):239-243
pubmed: 29420474
Nat Genet. 2019 Jan;51(1):106-116
pubmed: 30559488
Cell. 2013 Nov 21;155(5):1008-21
pubmed: 24267887
Nat Rev Genet. 2016 Feb;17(2):93-108
pubmed: 26781813
Cell. 2017 Oct 19;171(3):710-722.e12
pubmed: 28965761
Science. 2007 Jun 1;316(5829):1341-5
pubmed: 17463248
Nat Genet. 2014 Aug;46(8):818-25
pubmed: 24974849
Nature. 2006 Nov 23;444(7118):499-502
pubmed: 17086198
Genet Med. 2019 Jul;21(7):1611-1620
pubmed: 30504930
Curr Opin Genet Dev. 2015 Aug;33:80-92
pubmed: 26547130
Nat Med. 2015 Feb;21(2):185-91
pubmed: 25621899
Cell. 1991 Aug 23;66(4):817-22
pubmed: 1878973
Cell. 2013 Nov 21;155(5):997-1007
pubmed: 24267886
Mol Psychiatry. 2019 Nov;24(11):1707-1719
pubmed: 29703944
Cell. 2018 Aug 23;174(5):1309-1324.e18
pubmed: 30078704
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Nucleic Acids Res. 2017 Jan 4;45(D1):D804-D811
pubmed: 27907889
Nature. 2014 Jul 17;511(7509):344-7
pubmed: 24896178
Nature. 2015 Feb 19;518(7539):317-30
pubmed: 25693563
Nat Biotechnol. 2012 Feb 26;30(3):271-7
pubmed: 22371084
Nature. 2009 Oct 8;461(7265):802-8
pubmed: 19812673
Hum Mol Genet. 2003 Jul 15;12(14):1725-35
pubmed: 12837695
Nature. 2017 Feb 23;542(7642):433-438
pubmed: 28135719
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nature. 2018 Mar 29;555(7698):611-616
pubmed: 29562236
Nucleic Acids Res. 2007 Jan;35(Database issue):D88-92
pubmed: 17130149
Science. 2015 May 22;348(6237):910-4
pubmed: 25953818
Hum Mol Genet. 1995 Nov;4(11):2145-50
pubmed: 8589693
Nat Genet. 2017 Apr;49(4):515-526
pubmed: 28191889
Science. 2017 Dec 8;358(6368):1318-1323
pubmed: 29217575
Nat Genet. 2006 Mar;38(3):320-3
pubmed: 16415884
Cell. 2016 Oct 6;167(2):341-354.e12
pubmed: 27667684
Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):E5600-7
pubmed: 26401017
Nat Genet. 2011 Aug 14;43(9):838-46
pubmed: 21841781
Nat Protoc. 2006;1(3):1297-305
pubmed: 17406414
Am J Hum Genet. 2016 Jan 7;98(1):58-74
pubmed: 26749308
Nat Neurosci. 2017 Apr;20(4):602-611
pubmed: 28263302
Nat Genet. 2011 Jun;43(6):585-9
pubmed: 21572417
Nat Biotechnol. 2017 Feb;35(2):136-144
pubmed: 28024147
Nat Genet. 2010 Mar;42(3):203-9
pubmed: 20154674
Am J Hum Genet. 2016 Jan 7;98(1):45-57
pubmed: 26749307
Am J Hum Genet. 2010 Jul 9;87(1):60-74
pubmed: 20598273
JAMA. 2017 Sep 26;318(12):1182-1184
pubmed: 28973605
Nature. 2009 May 28;459(7246):528-33
pubmed: 19404256
NPJ Genom Med. 2016 Aug 3;1:160271-1602710
pubmed: 27525107
Genome Res. 2015 Jan;25(1):142-54
pubmed: 25378250
Nature. 2014 Nov 13;515(7526):216-21
pubmed: 25363768
Nat Genet. 2015 Jun;47(6):582-8
pubmed: 25961944
Nat Commun. 2019 Apr 16;10(1):1784
pubmed: 30992455
Neuron. 2012 Apr 26;74(2):285-99
pubmed: 22542183
Nature. 2007 Feb 22;445(7130):881-5
pubmed: 17293876
Nat Genet. 2018 May;50(5):727-736
pubmed: 29700473
Cell. 2016 Oct 6;167(2):355-368.e10
pubmed: 27693352
Cell. 2018 Jan 25;172(3):491-499.e15
pubmed: 29358049
Science. 2015 Mar 6;347(6226):1155-9
pubmed: 25745175
Cell. 1991 Dec 20;67(6):1047-58
pubmed: 1760838
Science. 2004 Oct 22;306(5696):636-40
pubmed: 15499007
Genetics. 2016 Apr;202(4):1251-4
pubmed: 27053122
Nature. 2012 Apr 04;485(7397):237-41
pubmed: 22495306
Science. 2013 Mar 1;339(6123):1074-7
pubmed: 23328393