Human Gene Set: NEWMAN_ERCC6_TARGETS_UP


Standard name NEWMAN_ERCC6_TARGETS_UP
Systematic name M5459
Brief description Genes up-regulated in Cockayne syndrome fibroblasts rescued by expression of ERCC6 [GeneID=2074] off a plasmid vector.
Full description or abstract Cockayne syndrome (CS) is an inherited neurodevelopmental disorder with progeroid features. Although the genes responsible for CS have been implicated in a variety of DNA repair- and transcription-related pathways, the nature of the molecular defect in CS remains mysterious. Using expression microarrays and a unique method for comparative expression analysis called L2L, we sought to define this defect in cells lacking a functional CS group B (CSB) protein, the SWI/SNF-like ATPase responsible for most cases of CS. Remarkably, many of the genes regulated by CSB are also affected by inhibitors of histone deacetylase and DNA methylation, as well as by defects in poly(ADP-ribose)-polymerase function and RNA polymerase II elongation. Moreover, consistent with these microarray expression data, CSB-null cells are sensitive to inhibitors of histone deacetylase or poly(ADP-ribose)-polymerase. Our data indicate a general role for CSB protein in maintenance and remodeling of chromatin structure and suggest that CS is a disease of transcriptional deregulation caused by misexpression of growth-suppressive, inflammatory, and proapoptotic pathways.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 16772382   Authors: Newman JC,Bailey AD,Weiner AM
Exact source Table 3S
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Source species Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
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AFFY_HG_U133
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Version history 3.0: First introduced

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