Nature Communications (May 2021)
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
- Marija Kojic,
- Tomasz Gawda,
- Monika Gaik,
- Alexander Begg,
- Anna Salerno-Kochan,
- Nyoman D. Kurniawan,
- Alun Jones,
- Katarzyna Drożdżyk,
- Anna Kościelniak,
- Andrzej Chramiec-Głąbik,
- Soroor Hediyeh-Zadeh,
- Maria Kasherman,
- Woo Jun Shim,
- Enakshi Sinniah,
- Laura A. Genovesi,
- Rannvá K. Abrahamsen,
- Christina D. Fenger,
- Camilla G. Madsen,
- Julie S. Cohen,
- Ali Fatemi,
- Zornitza Stark,
- Sebastian Lunke,
- Joy Lee,
- Jonas K. Hansen,
- Martin F. Boxill,
- Boris Keren,
- Isabelle Marey,
- Margarita S. Saenz,
- Kathleen Brown,
- Suzanne A. Alexander,
- Sergey Mureev,
- Alina Batzilla,
- Melissa J. Davis,
- Michael Piper,
- Mikael Bodén,
- Thomas H. J. Burne,
- Nathan J. Palpant,
- Rikke S. Møller,
- Sebastian Glatt,
- Brandon J. Wainwright
Affiliations
- Marija Kojic
- The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland
- Tomasz Gawda
- Malopolska Centre of Biotechnology, Jagiellonian University
- Monika Gaik
- Malopolska Centre of Biotechnology, Jagiellonian University
- Alexander Begg
- Institute for Molecular Bioscience, The University of Queensland
- Anna Salerno-Kochan
- Malopolska Centre of Biotechnology, Jagiellonian University
- Nyoman D. Kurniawan
- Centre for Advanced Imaging, The University of Queensland
- Alun Jones
- Institute for Molecular Bioscience, The University of Queensland
- Katarzyna Drożdżyk
- Malopolska Centre of Biotechnology, Jagiellonian University
- Anna Kościelniak
- Malopolska Centre of Biotechnology, Jagiellonian University
- Andrzej Chramiec-Głąbik
- Malopolska Centre of Biotechnology, Jagiellonian University
- Soroor Hediyeh-Zadeh
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Maria Kasherman
- School of Biomedical Sciences, The University of Queensland
- Woo Jun Shim
- Institute for Molecular Bioscience, The University of Queensland
- Enakshi Sinniah
- Institute for Molecular Bioscience, The University of Queensland
- Laura A. Genovesi
- The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland
- Rannvá K. Abrahamsen
- Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre
- Christina D. Fenger
- Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre
- Camilla G. Madsen
- Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital
- Julie S. Cohen
- Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute
- Ali Fatemi
- Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute
- Zornitza Stark
- Department of Paediatrics, The University of Melbourne
- Sebastian Lunke
- Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
- Joy Lee
- Department of Paediatrics, The University of Melbourne
- Jonas K. Hansen
- Department of Paediatrics, Regional Hospital Viborg
- Martin F. Boxill
- Department of Paediatrics, Regional Hospital Viborg
- Boris Keren
- Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP
- Isabelle Marey
- Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP
- Margarita S. Saenz
- The University of Colorado Anschutz, Children’s Hospital Colorado
- Kathleen Brown
- The University of Colorado Anschutz, Children’s Hospital Colorado
- Suzanne A. Alexander
- Queensland Brain Institute, The University of Queensland
- Sergey Mureev
- CSIRO-QUT Synthetic Biology Alliance, Centre for Tropical Crops and Bio-commodities, Queensland University of Technology
- Alina Batzilla
- Institute for Molecular Bioscience, The University of Queensland
- Melissa J. Davis
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Michael Piper
- School of Biomedical Sciences, The University of Queensland
- Mikael Bodén
- School of Chemistry and Molecular Biosciences, The University of Queensland
- Thomas H. J. Burne
- Queensland Brain Institute, The University of Queensland
- Nathan J. Palpant
- Institute for Molecular Bioscience, The University of Queensland
- Rikke S. Møller
- Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre
- Sebastian Glatt
- Malopolska Centre of Biotechnology, Jagiellonian University
- Brandon J. Wainwright
- The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland
- DOI
- https://doi.org/10.1038/s41467-021-22888-5
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 18
Abstract
Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.
