Systematic genomic and translational efficiency studies of uveal melanoma
作者： Chelsea Place Johnson , Ivana K. Kim , Bita Esmaeli , Ali Amin-Mansour , Daniel J. Treacy
DOI: 10.1371/JOURNAL.PONE.0178189
关键词: Germline mutation 、 Wild type 、 Cancer research 、 Mutation 、 Translational regulation 、 Biology 、 Translational efficiency 、 Molecular biology 、 GNA11 、 GNAQ 、 Mutant
摘要: To further our understanding of the somatic genetic basis uveal melanoma, we sequenced protein-coding regions 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, SF3B1. The role mutated EIF1AX was tested using loss function approaches including viability translational efficiency assays. Knockdown both wild type mutant lethal to melanoma cells. We probed N-terminal tail by performing RNA sequencing polysome-associated transcripts cells expressing endogenous or EIF1AX. Ribosome occupancy global apparatus sensitive suppression but not Together, these studies suggest that may exhibit aberrant regulation, which provide clonal selective advantage subset harbors this mutation.
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