De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Animals DNA Helicases Mice Neurodevelopmental Disorders / genetics Poly-ADP-Ribose Binding Proteins / genetics RNA Helicases / genetics RNA Recognition Motif Proteins Stress Granules

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
19 08 2022
Historique:
entrez: 17 8 2022
pubmed: 18 8 2022
medline: 20 8 2022
Statut: ppublish

Résumé

Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants in

Identifiants

DOI: 10.1126/sciadv.abo7112 PMID: 35977029 PMC: PMC9385150
pubmed: 35977029
doi: 10.1126/sciadv.abo7112
pmc: PMC9385150
doi:

Substances chimiques

Poly-ADP-Ribose Binding Proteins 0
RNA Recognition Motif Proteins 0
DNA Helicases EC 3.6.4.-
RNA Helicases EC 3.6.4.13

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eabo7112

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States

Références

Mol Cell. 2012 Jul 27;47(2):242-52
pubmed: 22727621
Hum Mol Genet. 2013 May 1;22(9):1816-25
pubmed: 23376982
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Curr Biol. 2020 Feb 24;30(4):698-707.e6
pubmed: 31956030
Early Hum Dev. 2020 Nov;150:105190
pubmed: 32948364
Nat Rev Neurosci. 2021 Apr;22(4):209-222
pubmed: 33608673
Nat Genet. 2016 Oct;48(10):1112-8
pubmed: 27618451
Nat Genet. 2019 Jan;51(1):106-116
pubmed: 30559488
Nature. 2011 Oct 26;478(7370):483-9
pubmed: 22031440
Nat Rev Mol Cell Biol. 2009 Jun;10(6):430-6
pubmed: 19461665
Nat Rev Neurosci. 2010 Jul;11(7):490-502
pubmed: 20559336
Nat Genet. 2014 Sep;46(9):944-50
pubmed: 25086666
Cell. 2008 Nov 14;135(4):738-48
pubmed: 19013281
J Neurochem. 2016 Oct;139 Suppl 2:179-199
pubmed: 26875778
Cell. 2009 Feb 20;136(4):719-30
pubmed: 19239891
Nat Med. 2019 May;25(5):784-791
pubmed: 31061540
Cell. 2016 Jan 28;164(3):487-98
pubmed: 26777405
Genome Biol. 2016 Jun 06;17(1):122
pubmed: 27268795
Development. 2012 May;139(9):1535-46
pubmed: 22492350
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Bioinformatics. 2016 Jun 1;32(11):1749-51
pubmed: 26826718
Nat Neurosci. 2006 Jan;9(1):99-107
pubmed: 16369481
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D433-7
pubmed: 15608232
Nat Commun. 2015 Mar 10;6:6404
pubmed: 25752243
Nucleic Acids Res. 2014 Feb;42(4):2185-96
pubmed: 24265227
Mol Cell. 2018 Feb 1;69(3):517-532.e11
pubmed: 29395067
J Cell Sci. 2019 Oct 18;132(20):
pubmed: 31558681
Neuron. 2005 Jan 20;45(2):207-21
pubmed: 15664173
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
PeerJ. 2015 Mar 03;3:e796
pubmed: 25780760
Cell. 2018 Jan 25;172(3):590-604.e13
pubmed: 29373831
Sci Adv. 2019 Sep 25;5(9):eaax2166
pubmed: 31579823
Cancer Cell. 2016 Nov 14;30(5):694-707
pubmed: 27908735
Am J Hum Genet. 2013 Aug 8;93(2):249-63
pubmed: 23849776
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
J Cell Biol. 2008 Nov 3;183(3):441-55
pubmed: 18981231
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genome Res. 2003 Nov;13(11):2498-504
pubmed: 14597658
Hum Mol Genet. 2013 Dec 1;22(23):4673-87
pubmed: 23821644
Nature. 2014 Apr 10;508(7495):199-206
pubmed: 24695229
Nat Cell Biol. 2008 Nov;10(11):1324-32
pubmed: 18836437
Cell. 2020 Apr 16;181(2):306-324.e28
pubmed: 32302570
J Autism Dev Disord. 2008 Mar;38(3):481-8
pubmed: 17619130
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
Nature. 2020 Oct;586(7831):757-762
pubmed: 33057194
Cell. 2020 Apr 16;181(2):346-361.e17
pubmed: 32302572
J Cell Biol. 2016 Mar 28;212(7):845-60
pubmed: 27022092
Cell Death Differ. 2020 Jan;27(1):227-241
pubmed: 31114027
J Neurosci. 2005 Jan 5;25(1):247-51
pubmed: 15634788
Nature. 2014 Nov 13;515(7526):209-15
pubmed: 25363760
Development. 2020 Mar 11;147(5):
pubmed: 32041791
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Science. 2018 Dec 14;362(6420):
pubmed: 30545854
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Cell. 2011 Jul 22;146(2):247-61
pubmed: 21784246
Nature. 2014 Nov 13;515(7526):216-21
pubmed: 25363768
Hum Mutat. 2015 Oct;36(10):928-30
pubmed: 26220891
Science. 2012 Dec 21;338(6114):1619-22
pubmed: 23160955
Genome Med. 2020 Mar 17;12(1):28
pubmed: 32183904
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Trends Neurosci. 2020 Aug;43(8):608-621
pubmed: 32507511
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Bioinformatics. 2018 Oct 15;34(20):3572-3574
pubmed: 29669011
Trends Cell Biol. 2016 Sep;26(9):668-679
pubmed: 27289443
J Vis Exp. 2013 Dec 24;(82):50978
pubmed: 24429507
Genome Med. 2015 Sep 30;7:100
pubmed: 26419432
Cell. 2020 Feb 6;180(3):568-584.e23
pubmed: 31981491
Cell. 2020 Apr 16;181(2):325-345.e28
pubmed: 32302571
BMC Bioinformatics. 2018 Dec 12;19(1):477
pubmed: 30541431
Cell Rep. 2014 Mar 27;6(6):1139-1152
pubmed: 24613350
Neurosci Biobehav Rev. 2015 Jan;48:70-91
pubmed: 25464029
J Mol Neurosci. 2020 Feb;70(2):219-229
pubmed: 31838722
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590

Auteurs

Xiangbin Jia (X)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
ORCID: 0000-0001-9363-9556

Shujie Zhang (S)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.
ORCID: 0000-0001-5220-0336

Senwei Tan (S)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
ORCID: 0000-0003-1878-2875

Bing Du (B)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Mei He (M)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China.

Haisong Qin (H)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
ORCID: 0000-0002-0353-8864

Jia Chen (J)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
ORCID: 0000-0002-3888-0643

Xinyu Duan (X)

Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China.
ORCID: 0000-0002-4876-9447

Jingsi Luo (J)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.

Fei Chen (F)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
ORCID: 0000-0003-2413-214X

Luping Ouyang (L)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.

Jian Wang (J)

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.
ORCID: 0000-0003-3391-5250

Guodong Chen (G)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Bin Yu (B)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Ge Zhang (G)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Zimin Zhang (Z)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Yongqing Lyu (Y)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Yi Huang (Y)

Mental Health Center, West China Hospital of Sichuan University, Chengdu 610000, China.

Jian Jiao (J)

Mental Health Center, West China Hospital of Sichuan University, Chengdu 610000, China.

Jin Yun Helen Chen (JYH)

Massachusetts General Hospital Neurogenetics Unit, Department of Neurology, Massachusetts General Brigham, Boston, MA 02114, USA.

Kathryn J Swoboda (KJ)

Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0002-4593-6342

Emanuele Agolini (E)

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.

Antonio Novelli (A)

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.

Chiara Leoni (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.
ORCID: 0000-0002-4089-637X

Giuseppe Zampino (G)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.
Faculty of Medicine and Surgery, Catholic University of the Sacred Heart, Rome 00168, Italy.
Fondazione Policlinico Universitario Agostino Gemelli Dipartimento Scienze della Salute della Donna e del Bambino, Rome, Italy.
Università Cattolica S. Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Rome, Italy.
ORCID: 0000-0002-2661-4831

Gerarda Cappuccio (G)

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Department of Translational Medicine, Federico II University, Naples, Italy.
ORCID: 0000-0003-3934-2342

Nicola Brunetti-Pierri (N)

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Department of Translational Medicine, Federico II University, Naples, Italy.
ORCID: 0000-0002-6895-8819

Benedicte Gerard (B)

Institut de Génétique Médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.
ORCID: 0000-0002-0015-7425

Emmanuelle Ginglinger (E)

Service de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France.
ORCID: 0000-0003-3454-4711

Julie Richer (J)

Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Hugh McMillan (H)

Department of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Canada.
ORCID: 0000-0001-8927-2018

Alexandre White-Brown (A)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Kendra Hoekzema (K)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
ORCID: 0000-0002-8058-0177

Raphael A Bernier (RA)

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.

Evangeline C Kurtz-Nelson (EC)

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
ORCID: 0000-0002-9418-7915

Rachel K Earl (RK)

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.

Claartje Meddens (C)

Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, Netherlands.
University Medical Center Utrecht, Department of Paediatrics, Utrecht, Netherlands.

Marielle Alders (M)

Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.

Meredith Fuchs (M)

Pediatrics and Genetics, Alpharetta, GA 30005, USA.

Roseline Caumes (R)

CHU Lille, Clinique de Génétique, Guy Fontaine, F-59000 Lille, France.

Perrine Brunelle (P)

Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.
ORCID: 0000-0002-3589-6885

Thomas Smol (T)

Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.
ORCID: 0000-0002-0119-5896

Ryan Kuehl (R)

Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.

Debra-Lynn Day-Salvatore (DL)

Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.

Kristin G Monaghan (KG)

GeneDx, Gaithersburg, MD 20877, USA.

Michelle M Morrow (MM)

GeneDx, Gaithersburg, MD 20877, USA.
ORCID: 0000-0001-9475-0934

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
ORCID: 0000-0002-8246-4014

Zhengmao Hu (Z)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Ling Yuan (L)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

Jieqiong Tan (J)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
ORCID: 0000-0003-0730-1095

Kun Xia (K)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China.
Hengyang Medical School, University of South China, Hengyang, China.
ORCID: 0000-0001-8090-6002

Yiping Shen (Y)

Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0001-5820-0839

Hui Guo (H)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China.
ORCID: 0000-0002-1570-2545

Articles similaires

Evaluating the efficacy of telesurgery with dual console SSI Mantra Surgical Robotic System: experiment on animal model and clinical trials.

Sudhir Prem Srivastava, Vishwajyoti Pascual Srivastava, Avinesh Singh et al.
1.00
Robotic Surgical Procedures Animals Humans Telemedicine Models, Animal

Odour generalisation and detection dog training.

Lyn Caldicott, Thomas W Pike, Helen E Zulch et al.
1.00
Animals Odorants Dogs Generalization, Psychological Smell

FBXO22 inhibits colitis and colorectal carcinogenesis by regulating the degradation of the S2448-phosphorylated form of mTOR.

Minle Li, Xuan Chen, Pengfei Qu et al.
1.00
Animals TOR Serine-Threonine Kinases Colorectal Neoplasms Colitis Mice

Use of organic material provided by an automatic enrichment device by weaner pigs and its influence on tail lesions.

Philipp Heseker, Jeanette Probst, Stefanie Ammer et al.
1.00
Animals Tail Swine Behavior, Animal Animal Husbandry

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › De novo variants in genes regulating stress...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Isomerases › Helicase › De novo variants in genes regulating stress...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › De novo variants in genes regulating stress...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › De novo variants in genes regulating stress...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéines liant le poly-adp-ribose › De novo variants in genes regulating stress...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Nucleotidyltransferases › RNA nucleotidyltransferases › RNA helicases › De novo variants in genes regulating stress...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines à motif de reconnaissance de l'ARN › De novo variants in genes regulating stress...
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Vésicules cytoplasmiques › Granulations cytoplasmiques › Granules ribonucléoprotéiques cytoplasmiques › Granules de stress › De novo variants in genes regulating stress...