Integrative proteogenomics for differential expression and splicing variation in a DM1 mouse model

ABSTRACT: Here, we performed a large-scale coordinated transcriptomic and proteomic analysis to characterize a DM1 mouse model (HSALR) in comparison to wild-type. Our integrative proteogenomics approach comprised gene- and splicing-level assessments for mRNA and protein. It recapitulated many known instances of aberrant mRNA splicing in DM1 and identified new ones. It enabled the design and targeting of splicing-specific peptides and confirmed the translation of known instances of aberrantly spliced disease-related genes (e.g. Atp2a1, Bin1, Ryr1), complemented by novel findings (e.g. Ywhae, Flnc, Svil). Comparative analysis of large-scale mRNA and protein expression data showed remarkable agreement of differential patterns between disease and wild-type on both the gene and especially the splicing level.

INSTRUMENT(S): Orbitrap Fusion Lumos, Q Exactive HF

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Skeletal Muscle Tissue, Muscle

DISEASE(S): Myotonic Dystrophy Type 1

SUBMITTER: Elizaveta Solovyeva  

LAB HEAD: Sebastian Hoersch

PROVIDER: PXD025589 | Pride | 2024-01-26

REPOSITORIES: Pride