AI Article Synopsis
- Splice variants can cause diseases by changing the way mRNA is made, which can lead to problems in proteins.
- Scientists can confirm these changes by looking at the mRNA sequences in tests.
- A new method called qMini helped researchers find a type of splice variant that lowers the amount of mRNA without changing its sequence, pointing to a new way diseases might develop.
Article 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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10705652 | PMC |
| http://dx.doi.org/10.1101/2023.11.02.23297963 | DOI Listing |
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