Nature Communications (Oct 2018)
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
- Adriana Buskin,
- Lili Zhu,
- Valeria Chichagova,
- Basudha Basu,
- Sina Mozaffari-Jovin,
- David Dolan,
- Alastair Droop,
- Joseph Collin,
- Revital Bronstein,
- Sudeep Mehrotra,
- Michael Farkas,
- Gerrit Hilgen,
- Kathryn White,
- Kuan-Ting Pan,
- Achim Treumann,
- Dean Hallam,
- Katarzyna Bialas,
- Git Chung,
- Carla Mellough,
- Yuchun Ding,
- Natalio Krasnogor,
- Stefan Przyborski,
- Simon Zwolinski,
- Jumana Al-Aama,
- Sameer Alharthi,
- Yaobo Xu,
- Gabrielle Wheway,
- Katarzyna Szymanska,
- Martin McKibbin,
- Chris F. Inglehearn,
- David J. Elliott,
- Susan Lindsay,
- Robin R. Ali,
- David H. Steel,
- Lyle Armstrong,
- Evelyne Sernagor,
- Henning Urlaub,
- Eric Pierce,
- Reinhard Lührmann,
- Sushma-Nagaraja Grellscheid,
- Colin A. Johnson,
- Majlinda Lako
Affiliations
- Adriana Buskin
- Institute of Genetic Medicine, Newcastle University
- Lili Zhu
- Institute of Genetic Medicine, Newcastle University
- Valeria Chichagova
- Institute of Genetic Medicine, Newcastle University
- Basudha Basu
- Leeds Institute of Medical Research, University of Leeds, St James’s University Hospital
- Sina Mozaffari-Jovin
- Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry
- David Dolan
- Department of Biological Sciences, Durham University
- Alastair Droop
- MRC Medical Bioinformatics Centre, University of Leeds
- Joseph Collin
- Institute of Genetic Medicine, Newcastle University
- Revital Bronstein
- Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School
- Sudeep Mehrotra
- Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School
- Michael Farkas
- Departments of Ophthalmology and Biochemistry, Jacobs School of Medicine and Biomedical Science, State University of New York at Buffalo
- Gerrit Hilgen
- Institute of Neuroscience, Medical School, Newcastle University
- Kathryn White
- Electron Microscopy Research Services, Medical School, Newcastle University
- Kuan-Ting Pan
- Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry
- Achim Treumann
- Institute for Cell and Molecular Biosciences, Medical School, Newcastle University
- Dean Hallam
- Institute of Genetic Medicine, Newcastle University
- Katarzyna Bialas
- Institute of Genetic Medicine, Newcastle University
- Git Chung
- Newcastle University Protein and Proteome Analysis (NUPPA)
- Carla Mellough
- Institute of Genetic Medicine, Newcastle University
- Yuchun Ding
- Interdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University
- Natalio Krasnogor
- Interdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University
- Stefan Przyborski
- Department of Biological Sciences, Durham University
- Simon Zwolinski
- Institute of Genetic Medicine, Newcastle University
- Jumana Al-Aama
- Princess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University
- Sameer Alharthi
- Princess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University
- Yaobo Xu
- Institute of Genetic Medicine, Newcastle University
- Gabrielle Wheway
- Centre for Research in Biosciences, University of the West of England
- Katarzyna Szymanska
- Leeds Institute of Medical Research, University of Leeds, St James’s University Hospital
- Martin McKibbin
- Leeds Institute of Medical Research, University of Leeds, St James’s University Hospital
- Chris F. Inglehearn
- Leeds Institute of Medical Research, University of Leeds, St James’s University Hospital
- David J. Elliott
- Institute of Genetic Medicine, Newcastle University
- Susan Lindsay
- Institute of Genetic Medicine, Newcastle University
- Robin R. Ali
- UCL Institute of Ophthalmology
- David H. Steel
- Institute of Genetic Medicine, Newcastle University
- Lyle Armstrong
- Institute of Genetic Medicine, Newcastle University
- Evelyne Sernagor
- Institute of Neuroscience, Medical School, Newcastle University
- Henning Urlaub
- Bioanalytical Mass Spectrometry Group, Max-Planck-Institute for Biophysical Chemistry
- Eric Pierce
- Ocular Genomics Institute, Mass Eye and Ear and Harvard Medical School
- Reinhard Lührmann
- Department of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry
- Sushma-Nagaraja Grellscheid
- Department of Biological Sciences, Durham University
- Colin A. Johnson
- Leeds Institute of Medical Research, University of Leeds, St James’s University Hospital
- Majlinda Lako
- Institute of Genetic Medicine, Newcastle University
- DOI
- https://doi.org/10.1038/s41467-018-06448-y
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 19
Abstract
Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.
