Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Autor: Bhattacharjee R; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Wee IC; Discipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia., Rao SR; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Proteomics, Metabolomics and MS-imaging Core Facility, South Australian Health and Medical Research Institute, and Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia., Gardner AE; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Ritchie T; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands., Ciptasari U; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands., Piltz S; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia., Noll JE; School of Biomedicine, Faculty of Health and Medical Sciences, University of Adelaide and Precision Cancer Medicine Theme, Solid Tumour Program, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia., Nazri N; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Childhood Dementia Research Group, College of Medicine and Public Health, Flinders Health & Medical Research Institute, Flinders University, Bedford Park, Adelaide, SA, 5042, Australia., van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., White M; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia., Fornarino D; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Poulton C; Undiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA, 6009, Australia., Collins-Praino LE; Discipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia., Snel MF; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Proteomics, Metabolomics and MS-imaging Core Facility, South Australian Health and Medical Research Institute, and Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia., Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands., Hemsley KM; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Childhood Dementia Research Group, College of Medicine and Public Health, Flinders Health & Medical Research Institute, Flinders University, Bedford Park, Adelaide, SA, 5042, Australia., Thomas PQ; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia., Kumar R; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Feb 08; Vol. 15 (1), pp. 1210. Date of Electronic Publication: 2024 Feb 08.