![]() ![]() Bioinformatics 2007 23: 150–155.įinta C, Zaphiropoulos PG. Complementary intron sequence motifs associated with human exon repetition: a role for intragenic, inter-transcript interactions in gene expression. ![]() A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. Natural trans-spliced mRNAs are generated from the human estrogen receptor-alpha (hER alpha) gene. PLoS One 2012 7: e30733.įlouriot G, Brand H, Seraphin B, Gannon F. Circular RNAs are the predominant transcript isoform from hundreds of human genes in diverse cell types. Salzman J, Gawad C, Wang PL, Lacayo N, Brown PO. ASTD: the alternative splicing and transcript diversity database. Koscielny G, Le Texier V, Gopalakrishnan C, Kumanduri V, Riethoven JJ, Nardone F et al. Deep RNA sequencing analysis of readthrough gene fusions in human prostate adenocarcinoma and reference samples. Nacu S, Yuan W, Kan Z, Bhatt D, Rivers CS, Stinson J et al. Alternative splicing: new insights from global analyses. Transcriptome and genome sequencing uncovers functional variation in humans. Lappalainen T, Sammeth M, Friedlander MR, 't Hoen PA, Monlong J, Rivas MA et al. The human transcriptome across tissues and individuals. Mele M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M et al. An integrated encyclopedia of DNA elements in the human genome. Genome Res 2012 22: 1760–1774.ĭunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, Doyle F et al. GENCODE: the reference human genome annotation for The ENCODE Project. Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, Kokocinski F et al. Landscape of transcription in human cells. In addition to previously described oncogenic splicing factor genes, we propose 24 novel cancer-critical splicing factors predicted from somatic mutations.ĭjebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A et al. Furthermore, we identify enrichment of predicted cancer-critical genes among the splicing factors. Splicing factor genes are shown to be significantly differentially expressed between cancer and corresponding normal samples, and to have reduced inter-individual expression variation in cancer. Based on a comprehensive catalog of splicing factor encoding genes and analyses of available gene expression and somatic mutation data, we identify cancer-associated patterns of dysregulation. We then focus on the executors of the splicing process. In this review, we provide an overview of aberrant RNA splicing and its regulation in cancer. Cancer-specific splicing events are known to contribute to disease progression however, the dysregulated splicing patterns found on a genome-wide scale have until recently been less well-studied. In cancer, the splicing process is commonly disrupted, resulting in both functional and non-functional end-products. ![]() Alternative splicing is a widespread process contributing to structural transcript variation and proteome diversity. ![]()
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