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.
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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