TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India., Perillo DR; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li S; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Johnson K; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Baris S; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Berger B; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Regan SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Pfennig CD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., de Munnik S; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA., Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Ozen A; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Dmytrus J; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Corning K; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lebel RR; Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA., Le TL; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Amiel J; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France., Gordon CT; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 1090, Austria.; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, 1090, Austria., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. ashleigh.schaffer@case.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Feb 22; Vol. 15 (1), pp. 1640. Date of Electronic Publication: 2024 Feb 22.

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration.

Autor: LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Farr JS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Liu J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Akesson C; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Gumus E; Department of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla 48000, Turkey; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa 63000, Turkey., Pinkard O; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Miranda HC; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Johnson K; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA., Sweet TJ; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Ji P; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch at Galveston, Galveston, TX 77555, USA., Lin A; Department of Etiology and Carcinogenesis, National Cancer Center/National Clinical Research Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, WC67+HC Dongcheng, Beijing, China., Coller J; Department of Molecular Biology and Genetics, Johns Hopkins, Baltimore, MD 21205, USA., Philippidou P; Department of Neurosciences, Case Western Reserve University, Cleveland, OH 44106, USA., Wagner EJ; Department of Biochemistry and Molecular Biology, University of Texas Medical Branch at Galveston, Galveston, TX 77555, USA; Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: ashleigh.schaffer@case.edu.

Publikováno v: Neuron [Neuron] 2022 Apr 20; Vol. 110 (8), pp. 1340-1357.e7. Date of Electronic Publication: 2022 Feb 08.