Gene Set: IVANOV_MUTATED_IN_COLON_CANCER

Standard name IVANOV_MUTATED_IN_COLON_CANCER
Systematic name M5989
Brief description Genes mutated in colon cancer cell lines, identified using the GINI method described in the paper.
Full description or abstract Inhibition of the nonsense-mediated decay (NMD) mechanism in cells results in stabilization of transcripts carrying premature translation termination codons. A strategy referred to as gene identification by NMD inhibition (GINI) has been proposed to identify genes carrying nonsense mutations. Genes containing frameshift mutations in colon cancer cell line have been identified using a modified version of GINI. To increase the efficiency of identifying mutant genes using GINI, we have now further improved the strategy. In this approach, inhibition of NMD with emetine is complemented with inhibiting NMD by blocking the phosphorylation of the hUpf1 protein with caffeine. In addition, to enhance the GINI strategy, comparing mRNA level alterations produced by inhibiting transcription alone or inhibiting transcription together with NMD following caffeine pretreatment were used for the efficient identification of false positives produced as a result of stress response to NMD inhibition. To demonstrate the improved efficiency of this approach, we analysed colon cancer cell lines showing microsatellite instability. Bi-allelic inactivating mutations were found in the FXR1, SEC31L1, NCOR1, BAT3, PHF14, ZNF294, C19ORF5 genes as well as genes coding for proteins with yet unknown functions.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17086209   Authors: Ivanov I,Lo KC,Hawthorn L,Cowell JK,Ionov Y
Exact source Table 2
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Organism Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
Source platform HUMAN_GENE_SYMBOL
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