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The qMini assay identifies an overlooked class of splice variants

Guan, B.; Bender, C.; Pantrangi, M.; Moore, N.; Reeves, M.; Naik, A.; Li, H.; Goetz, K.; Blain, D.; Agather, A.; Cukras, C.; Zein, W. M.; Huryn, L. A.; Brooks, B. P.; Hufnagel, R. B.

2023-11-03 genetic and genomic medicine
10.1101/2023.11.02.23297963 medRxiv
Show abstract

Splice variants are known to cause diseases by utilizing alternative splice sites, potentially resulting in protein truncation or mRNA degradation by nonsense-mediated decay. Splice variants are verified when altered mature mRNA sequences are identified in RNA analyses or minigene assays. Using a quantitative minigene assay, qMini, we uncovered a previously overlooked class of disease-associated splice variants that did not alter mRNA sequence but decreased mature mRNA level, suggesting a potentially new pathogenic mechanism.

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