Jürgens, Lara; Manske, Felix; Hubert, Elvira; Kischka, Tabea; Flötotto, Lea; Klaas, Oliver ; Shabardina, Victoria ; Schliemann, Christoph ; Makałowski, Wojciech; Wethmar, Klaus: Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer
Inhalt
- Materials and Methods
- Definition of TLSs and uORF-Associated Genomic Positions
- Variation Data Obtained from GDC Data Portal
- Calculation of Read Coverage
- Identification of Somatic Variants at uAUG, aTIS, and uStop Codons
- Filtering of Raw Variability Data
- Selection of uORF-Associated Variants for Functional Testing
- Cell Lines and Plasmids
- Dual Luciferase Reporter Assays
- RNA Preparation and qRT-PCR
- Results
- Read Coverage at uAUG, aTIS, and uStop Codons in TCGA-Derived Whole-Exome Sequencing Datasets
- Identification of Recurrent Somatic Genetic Variation at uAUG, aTIS, and uStop Codons
- Defective Translational Regulation by uORF-Associated Somatic SNVs
- Discussion
- Conclusions and Outlook
- References