Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model.

ABSTRACT: Dysregulated mRNA splicing is involved in the pathogenesis of many diseases including cancer, neurodegenerative diseases, and muscular dystrophies such as myotonic dystrophy type 1 (DM1). Comprehensive assessment of dysregulated splicing on the transcriptome and proteome level has been methodologically challenging, and thus investigations have often been targeting only few genes. Here, we performed a large-scale coordinated transcriptomic and proteomic analysis to characterize a DM1 mouse model (HSA^LR) in comparison to wild type. Our integrative proteogenomics approach comprised gene- and splicing-level assessments for mRNAs and proteins. It recapitulated many known instances of aberrant mRNA splicing in DM1 and identified new ones. It enabled the design and targeting of splicin

SUBMITTER: Solovyeva EM 

PROVIDER: S-EPMC10770608 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature