Unknown,Transcriptomics,Genomics,Proteomics

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RNA-seq from myogenic satellite cells from a translational porcine model for Duchenne muscular dystrophy, heterozygous female carriers, and their healthy wild-type counterpart


ABSTRACT: Satellite cells (SCs), the stem cell population of skeletal muscle, are crucial for growth and regeneration, and their dysfunction is increasingly recognized as a contributing factor to Duchenne muscular dystrophy (DMD). DMD is a severe, X-linked disorder caused by DMD gene mutations, leading to loss of dystrophin expression in muscle tissue and a progressive muscle degeneration. Here, we provide RNA-seq data from wild-type (WT), dystrophin-deficient (DMD), and heterozygous (HET) pig SCs, representing a translational model for human DMD. Muscle biopsies were collected from fetal and 3-day-old animals, enzymatically digested, and subjected to magnetically activated cell sorting for SC purification. Purified cells were cultured under normal growth conditions in proliferation (PROL) and after induction to differentiate into multinucleated myotubes (DIFF), and total RNA was extracted for 3′ mRNA-seq. Libraries were prepared using NexteraXT and sequenced on a NextSeq550Dx. After quality control and deduplication, reads were aligned to the Sus scrofa reference genome, and gene counts were generated with STAR. Parts of this data have been previously published in a larger study and are now made fully accessible as an independent dataset. By capturing stage- and genotype-specific transcriptional signatures of SCs, this dataset offers new insights into the molecular defects associated with dystrophin-deficiency and serves as a reference resource for future studies investigating DMD pathogenesis.

INSTRUMENT(S): NextSeq 550, Nanodrop 2000c spectrophotometer

ORGANISM(S): Sus scrofa

SUBMITTER: Sophie Franzmeier 

PROVIDER: E-MTAB-16179 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Multi-Modal Analysis of Satellite Cells Reveals Early Impairments at Pre-Contractile Stages of Myogenesis in Duchenne Muscular Dystrophy.

Franzmeier Sophie S   Chakraborty Shounak S   Mortazavi Armina A   Stöckl Jan B JB   Jiang Jianfei J   Pfarr Nicole N   Sabass Benedikt B   Fröhlich Thomas T   Kaufhold Clara C   Stirm Michael M   Wolf Eckhard E   Schlegel Jürgen J   Matiasek Kaspar K  

Cells 20250613 12


Recent studies on myogenic satellite cells (SCs) in Duchenne muscular dystrophy (DMD) documented altered division capacities and impaired regeneration potential of SCs in DMD patients and animal models. It remains unknown, however, if SC-intrinsic effects trigger these deficiencies at pre-contractile stages of myogenesis rather than resulting from the pathologic environment. In this study, we isolated SCs from a porcine DMD model and age-matched wild-type (WT) piglets for comprehensive analysis.  ...[more]

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