Abstract
Dystrophin gene (DMD) internal promoters with their unique first exons generate different mRNA isoforms, of which transcriptional regulation and topography is still poorly defined. We investigated the sub-cellular compartmentalization of DMD transcripts in 17 DMD patients and 2 controls. Five DMD and 1 control cells were immortalized myogenic cells, while 12 DMD and 1 control cells were primary myoblasts. We used two RNAscopeⓇ based probes, which recognize full-length Dp427 transcripts (exons 37-42) or potentially all DMD transcripts (exons 63-75) and DMD transcript localization and quantification was done by RNA/RNA dot counts and by FluiDMD card.
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