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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
D. Li, Q. Wang, A. Bayat, MR. Battig, Y. Zhou, DG. Bosch, G. van Haaften, L. Granger, AK. Petersen, LA. Pérez-Jurado, G. Aznar-Laín, A. Aneja, M. Hancarova, S. Bendova, M. Schwarz, R. Kremlikova Pourova, Z. Sedlacek, BA. Keena, ME. March, C. Hou,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
P50 HD105354
NICHD NIH HHS - United States
R01 NS107392
NINDS NIH HHS - United States
U01 HG007672
NHGRI NIH HHS - United States
Wellcome Trust - United Kingdom
U01 HG007301
NHGRI NIH HHS - United States
U01 HG009610
NHGRI NIH HHS - United States
NLK
Directory of Open Access Journals
od 2022
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od 1924 do Před 1 rokem
PubMed Central
od 1924 do Před 1 rokem
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od 1924 do Před 1 rokem
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od 2002-07-01
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od 1924-10-01
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od 1925-08-01
Nursing & Allied Health Database (ProQuest)
od 2002-07-01
Health & Medicine (ProQuest)
od 2002-07-01
ROAD: Directory of Open Access Scholarly Resources
od 1924
PubMed
37962958
DOI
10.1172/jci171235
Knihovny.cz E-zdroje
- MeSH
- enzymy opravy DNA genetika MeSH
- genové regulační sítě MeSH
- jaderné proteiny genetika MeSH
- lidé MeSH
- missense mutace MeSH
- neurovývojové poruchy * genetika MeSH
- sestřih RNA MeSH
- sestřihové faktory genetika MeSH
- spliceozomy * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50-deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.
Aix Marseille University Inserm U1251 MMG Marseille Medical Genetics Marseille France
Ambry Genetics Aliso Viejo California USA
Center for Applied Genomics and
Center for Development Behavior and Genetics SUNY Upstate Medical University Syracuse New York USA
Central Michigan University College of Medicine Discipline of Pediatrics Mount Pleasant Michigan USA
Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII Madrid Spain
Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada
Department for Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark
Department of Clinical Genetics Cook Children's Hospital Fort Worth Texas USA
Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands
Department of Clinical Genetics Sheffield Children's Hospital Sheffield United Kingdom
Department of Clinical Medicine University of Copenhagen Copenhagen Denmark
Department of Drug Design and Pharmacology University of Copenhagen Copenhagen Denmark
Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark
Department of General Medicine Women's and Children's Hospital Adelaide South Australia Australia
Department of Genetics Albert Einstein College of Medicine Bronx New York USA
Department of Genetics Hospital Pitié Salpêtrière Paris France
Department of Genetics Kaiser Permanente Los Angeles California USA
Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA
Department of Human Genetics Academic Medical Center and
Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan
Department of Medical Genetics Timone Hospital APHM Marseille France
Department of Molecular Genetics University of Toronto Toronto Ontario Canada
Department of Neurology University of Pennsylvania Philadelphia Pennsylvania USA
Department of Obstetrics and Gynecology Juntendo University Tokyo Japan
Department of Pathology Columbia University Irving Medical Center New York New York USA
Department of Pediatrics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA
Department of Pediatrics Graduate School of Medical Sciences Kyushu University Fukuoka Japan
Department of Pediatrics Karatsu Red Cross Hospital Saga Japan
Department of Precision Medicine University of Campania Luigi Vanvitelli Naples Italy
Department of Rare Disease Genomics Yokohama City University Hospital Yokohama Japan
Department of Regional Health Research University of Southern Denmark Odense Denmark
Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada
Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA
Division of Genetics and Metabolism Mass General Hospital for Children Boston Massachusetts USA
Division of Genetics Department of Paediatrics London Health Sciences Centre London Ontario Canada
Division of Genetics Department of Paediatrics McMaster University Hamilton Ontario Canada
Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA
Division of Medical Genetics Children's Hospital Los Angeles California USA
Division of Medical Genetics Department of Pediatrics UCLA Los Angeles California USA
Division of Pediatric Pulmonary and Sleep Medicine University of Utah Salt Lake City Utah USA
DZHK partner site Göttingen Göttingen Germany
eCODE genetics Amgen Inc Reykjavik Iceland
Faculty of Medicine School of Health Sciences University of Iceland Reykjavik Iceland
Genetic Service Hospital del Mar Research Institute Barcelona Spain
Genetic Services Kaiser Permenante of Washington Seattle Washington USA
Genetics and Molecular Pathology SA Pathology Adelaide South Australia Australia
Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy
Genome Diagnostics Department of Paediatric Laboratory Medicine and
Greenwood Genetic Center Greenwood South Carolina USA
HudsonAlpha Institute for Biotechnology Huntsville Alabama USA
Institute of Human Genetics Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany
Institute of Human Genetics University Medical Center Göttingen Göttingen Germany
Institute of Medical and Molecular Genetics Hospital Universitario La Paz Madrid Spain
Invitae San Francisco California USA
Keck School of Medicine of the University of Southern California Los Angeles California USA
Kinderzentrum Oldenburg Sozialpädiatrisches Zentrum Diakonisches Werk Oldenburg Oldenburg Germany
Laboratoire de Biologie Médicale Multi Sites SeqOIA Paris France
Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
Mitochondrial Medicine Frontier Program Division of Human Genetics Department of Pediatrics
Nantes Université CHU Nantes Medical Genetics Department Nantes France
Nantes Université CNRS INSERM l'Institut du Thorax Nantes France
New York Genome Center New York New York USA
Oasi Research Institute IRCCS Troina Italy
Pediatric Neurology and Muscular Diseases Unit and
Pediatric Neurology Hospital del Mar Research Institute Barcelona Spain
Rady Children's Institute for Genomic Medicine San Diego California USA
Rare Disease Genetics Department APHP Hôpital Necker Paris France
Reference Center for Hereditary Metabolic Diseases CHU Dijon Bourgogne Dijon France
South Australian Health and Medical Research Institute Adelaide South Australia Australia
Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy
UF Innovation en Diagnostic Génomique des Maladies Rares CHU Dijon Bourgogne Dijon France
Universitat Pompeu Fabra Barcelona Spain
University Health Network Toronto Ontario Canada
University of Illinois College of Medicine Mercy Health Systems Rockford Illinois USA
Citace poskytuje Crossref.org
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- $a Spliceosome malfunction causes neurodevelopmental disorders with overlapping features / $c D. Li, Q. Wang, A. Bayat, MR. Battig, Y. Zhou, DG. Bosch, G. van Haaften, L. Granger, AK. Petersen, LA. Pérez-Jurado, G. Aznar-Laín, A. Aneja, M. Hancarova, S. Bendova, M. Schwarz, R. Kremlikova Pourova, Z. Sedlacek, BA. Keena, ME. March, C. Hou, N. O'Connor, EJ. Bhoj, MH. Harr, G. Lemire, KM. Boycott, M. Towne, M. Li, M. Tarnopolsky, L. Brady, MJ. Parker, H. Faghfoury, LK. Parsley, E. Agolini, ML. Dentici, A. Novelli, M. Wright, R. Palmquist, K. Lai, M. Scala, P. Striano, M. Iacomino, F. Zara, A. Cooper, TJ. Maarup, M. Byler, RR. Lebel, TB. Balci, R. Louie, M. Lyons, J. Douglas, C. Nowak, A. Afenjar, J. Hoyer, B. Keren, SM. Maas, MM. Motazacker, JA. Martinez-Agosto, AM. Rabani, EM. McCormick, MJ. Falk, SM. Ruggiero, I. Helbig, RS. Møller, L. Tessarollo, F. Tomassoni Ardori, ME. Palko, TC. Hsieh, PM. Krawitz, M. Ganapathi, BD. Gelb, V. Jobanputra, A. Wilson, J. Greally, S. Jacquemont, K. Jizi, AL. Bruel, C. Quelin, VK. Misra, E. Chick, C. Romano, D. Greco, A. Arena, M. Morleo, V. Nigro, R. Seyama, Y. Uchiyama, N. Matsumoto, R. Taira, K. Tashiro, Y. Sakai, G. Yigit, B. Wollnik, M. Wagner, B. Kutsche, AC. Hurst, ML. Thompson, R. Schmidt, L. Randolph, RC. Spillmann, V. Shashi, EJ. Higginbotham, D. Cordeiro, A. Carnevale, G. Costain, T. Khan, B. Funalot, F. Tran Mau-Them, L. Fernandez Garcia Moya, S. García-Miñaúr, M. Osmond, L. Chad, N. Quercia, D. Carrasco, C. Li, A. Sanchez-Valle, M. Kelley, M. Nizon, BO. Jensson, P. Sulem, K. Stefansson, S. Gorokhova, T. Busa, M. Rio, H. Hadj Habdallah, M. Lesieur-Sebellin, J. Amiel, V. Pingault, S. Mercier, M. Vincent, C. Philippe, C. Fatus-Fauconnier, K. Friend, RK. Halligan, S. Biswas, J. Rosser, C. Shoubridge, M. Corbett, C. Barnett, J. Gecz, K. Leppig, A. Slavotinek, C. Marcelis, R. Pfundt, BB. de Vries, MA. van Slegtenhorst, AS. Brooks, B. Cogne, T. Rambaud, Z. Tümer, EH. Zackai, N. Akizu, Y. Song, H. Hakonarson
- 520 9_
- $a Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50-deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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