Nature Communications (May 2018)
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
- Chantal Sellier,
- Estefanía Cerro-Herreros,
- Markus Blatter,
- Fernande Freyermuth,
- Angeline Gaucherot,
- Frank Ruffenach,
- Partha Sarkar,
- Jack Puymirat,
- Bjarne Udd,
- John W. Day,
- Giovanni Meola,
- Guillaume Bassez,
- Harutoshi Fujimura,
- Masanori P. Takahashi,
- Benedikt Schoser,
- Denis Furling,
- Ruben Artero,
- Frédéric H. T. Allain,
- Beatriz Llamusi,
- Nicolas Charlet-Berguerand
Affiliations
- Chantal Sellier
- IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg
- Estefanía Cerro-Herreros
- Translational Genomics Group, Interdisciplinary Research Structure for Biotechnology and Biomedicine BIOTECMED, University of Valencia
- Markus Blatter
- Institute for Molecular Biology and Biophysics, Swiss Federal Institute of Technology (ETH) Zurich
- Fernande Freyermuth
- IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg
- Angeline Gaucherot
- IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg
- Frank Ruffenach
- IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg
- Partha Sarkar
- Department of Neurology, University of Texas Medical Branch
- Jack Puymirat
- Human Genetics Research Unit, Laval University, CHUQ, Ste-Foy
- Bjarne Udd
- Neuromuscular Research Center, Tampere University Hospital
- John W. Day
- Department of Neurology, Stanford University
- Giovanni Meola
- Department of Biomedical Sciences for Health, University of Milan
- Guillaume Bassez
- Sorbonne Université, Inserm, Association Institut de Myologie, Center of Research in Myology
- Harutoshi Fujimura
- Department of Neurology, Toneyama National Hospital
- Masanori P. Takahashi
- Department of Neurology, Osaka University Graduate School of Medicine
- Benedikt Schoser
- Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University
- Denis Furling
- Sorbonne Université, Inserm, Association Institut de Myologie, Center of Research in Myology
- Ruben Artero
- Translational Genomics Group, Interdisciplinary Research Structure for Biotechnology and Biomedicine BIOTECMED, University of Valencia
- Frédéric H. T. Allain
- Institute for Molecular Biology and Biophysics, Swiss Federal Institute of Technology (ETH) Zurich
- Beatriz Llamusi
- Translational Genomics Group, Interdisciplinary Research Structure for Biotechnology and Biomedicine BIOTECMED, University of Valencia
- Nicolas Charlet-Berguerand
- IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg
- DOI
- https://doi.org/10.1038/s41467-018-04370-x
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 15
Abstract
Myotonic dystrophy (DM) type 2 is a neuromuscular pathology caused by large expansions of CCTG repeats. Here the authors find that rbFOX1 RNA binding protein binds to CCUG RNA repeats and competes with MBNL1 for the binding to CCUG repeats, releasing MBNL1 from sequestration in DM2 muscle cells.
