The qMini assay identifies an overlooked class of splice variants.
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ABSTRACT:
SUBMITTER: Guan B
PROVIDER: S-EPMC10705652 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
Publications
The qMini assay identifies an overlooked class of splice variants.
Guan Bin B Bender Chelsea C Pantrangi Madhulatha M Moore Nia N Reeves Melissa M Naik Amelia A Li Huirong H Goetz Kerry K Blain Delphine D Agather Aime A Cukras Catherine C Zein Wadih M WM Huryn Laryssa A LA Brooks Brian P BP Hufnagel Robert B RB
medRxiv : the preprint server for health sciences 20231103
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 potent ...[more]
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