Key result
Mutations within the alternative exon of cardiac troponin T precursors specifically blocked splicing of the upstream intron in vitro and had no effect on removal of the downstream intron.
This study establishes an in vitro system demonstrating that mutations in exon 5 of the cardiac troponin T gene specifically block splicing of the upstream intron.
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In vitro troponin T splicing model established; leaves open relevance to in vivo cardiac phenotypes or human disease.
Thomas A. Cooper (1992) studied Cardiac troponin T gene splicing. Mutations within exon 5 of cTNT minigenes vs. Unmodified minigenes was evaluated on Splicing of the upstream and downstream introns. Mutations within the alternative exon of cardiac troponin T precursors specifically blocked splicing of the upstream intron in vitro and had no effect on removal of the downstream intron.
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