STANDARD_NAME KYNG_RESPONSE_TO_H2O2_VIA_ERCC6_UP SYSTEMATIC_NAME M2047 COLLECTION C2:CGP MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KYNG_RESPONSE_TO_H2O2_VIA_ERCC6_UP NAMESPACE HUMAN_SEQ_ACCESSION DESCRIPTION_BRIEF Genes up-regulated in response to hydorgen peroxyde [PubChem=784] in CS-B cells (Cockaine syndrome fibroblast, CS) with defficient ERCC6 [GeneID=2074]. DESCRIPTION_FULL Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, sensorineural hearing loss, and retinal degradation. CS-B cells are defective in transcription-coupled DNA repair, base excision repair, transcription, and chromatin structural organization. Using array analysis, we have examined the expression profile in CS complementation group B (CS-B) fibroblasts after exposure to oxidative stress (H2O2) before and after complete complementation with the CSB gene. The following isogenic cell lines were compared: CS-B cells (CS-B null), CS-B cells complemented with wild-type CSB (CS-B wt), and a stably transformed cell line with a point mutation in the ATPase domain of CSB (CS-B ATPase mutant). In the wt rescued cells, we detected significant induction (two-fold) of 112 genes out of the 6912 analysed. The patterns suggested an induction or upregulation of genes involved in several DNA metabolic processes including DNA repair, transcription, and signal transduction. In both CS-B mutant cell lines, we found a general deficiency in transcription after oxidative stress, suggesting that the CSB protein influenced the regulation of transcription of certain genes. Of the 6912 genes, 122 were differentially regulated by more than two-fold. Evidently, the ATPase function of CSB is biologically important as the deficiencies seen in the ATPase mutant cells are very similar to those observed in the CS-B-null cells. Some major defects are in the transcription of genes involved in DNA repair, signal transduction, and ribosomal functions. PMID 12606941 GEOID AUTHORS Kyng KJ,May A,Brosh RM Jr,Cheng WH,Chen C,Becker KG,Bohr VA CONTRIBUTOR Arthur Liberzon CONTRIBUTOR_ORG MSigDB Team EXACT_SOURCE Table 2: Cluster 1 FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL SOURCE_MEMBERS AA019459,AA057436,AA126356,AA258396,AA292583,AA428749,AA449037,AA455523,AA456156,AA457097,AA457118,AA459213,AA459263,AA460319,AA461231,AA464470,AA481585,AA485677,AA486221,AA486332,AA488609,AA495746,AA521243,H29407,H46553,H80359,N20798,N50073,N62179,R15708,R17654,R32952,R52852,R76281,T55931,T73556,T98612,W15263,W19461,W72621 GENE_SYMBOLS TWF1,RFXAP,CANX,PHLDA1,TAF10,PPP1R2,CAPZA1,,UROS,AKT2,TOMM34,CCNA2,BCL2A1,LIMD1,TSN,VARS1,IFT88,TRIP6,PABPC4,,NUP88,MLIP,MRPL19,SLC39A6,ZEB1,PIP4K2B,KIT,HACD3,ALDH6A1,INSL4,SPECC1L,S100P,FBXW2,SLC31A2,,ACSL1,,SLC26A2,ABI2,RYBP FOUNDER_NAMES