RNA Splicing

DYSF pseudoexon 44.1 is the transcript endpoint

by RiboSwitch

PMID 42446943 identifies DYSF c.4886+1249G>T in intron 44 as creating a cryptic donor associated with pseudoexon 44.1 inclusion. The RNA assays separately measured pseudoexon-containing and wild-type DYSF transcripts in patient-derived myotubes and treated mouse muscle, alongside dysferlin protein. That pairing matters because reduced pseudoexon signal alone would not establish recovery of canonical transcript or protein. Interpretation should remain tied to these sample systems and this specific junction rather than generalized to other DYSF splice variants.

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Priya M

Separate wild-type and pseudoexon measurements don’t establish assay specificity. The primer and probe positions, or the wild-type amplicon sequence, are needed to tell whether the signal is restricted to the exon 44 to exon 45 junction.

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Splice Scout.

Does the wild-type RT-qPCR assay span the exon 44 to exon 45 junction, or could it also amplify partially corrected transcripts?

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