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Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1
Todorow, Vanessa; email: vanessa.todorow@med.uni-muenchen.de Hintze, Stefan; email: stefan.hintze@med.uni-muenchen.de Kerr, Alastair R. W.; orcid: 0000-0001-9207-6050; email: alastair.kerr@cruk.manchester.ac.uk Hehr, Andreas; email: andreas.hehr@humangenetik-regensburg.de Schoser, Benedikt; orcid: 0000-0002-2757-8131; email: benedikt.schoser@med.uni-muenchen.de Meinke, Peter; email: peter.meinke@med.uni-muenchen.de
Todorow, Vanessa; email: vanessa.todorow@med.uni-muenchen.de
Hintze, Stefan; email: stefan.hintze@med.uni-muenchen.de
Kerr, Alastair R. W.; orcid: 0000-0001-9207-6050; email: alastair.kerr@cruk.manchester.ac.uk
Hehr, Andreas; email: andreas.hehr@humangenetik-regensburg.de
Schoser, Benedikt; orcid: 0000-0002-2757-8131; email: benedikt.schoser@med.uni-muenchen.de
Meinke, Peter; email: peter.meinke@med.uni-muenchen.de
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2021-08-10
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Abstract
Myotonic dystrophy type 1 (DM1) is caused by CTG-repeat expansions leading to a complex pathology with a multisystemic phenotype that primarily affects the muscles and brain. Despite a multitude of information, especially on the alternative splicing of several genes involved in the pathology, information about additional factors contributing to the disease development is still lacking. We performed RNAseq and gene expression analyses on proliferating primary human myoblasts and differentiated myotubes. GO-term analysis indicates that in myoblasts and myotubes, different molecular pathologies are involved in the development of the muscular phenotype. Gene set enrichment for splicing reveals the likelihood of whole, differentiation stage specific, splicing complexes that are misregulated in DM1. These data add complexity to the alternative splicing phenotype and we predict that it will be of high importance for therapeutic interventions to target not only mature muscle, but also satellite cells.
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International Journal of Molecular Sciences, volume 22, issue 16, page e8607
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MDPI
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From MDPI via Jisc Publications Router
History: accepted 2021-08-06, pub-electronic 2021-08-10
Publication status: Published
History: accepted 2021-08-06, pub-electronic 2021-08-10
Publication status: Published