title: A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA.
abstract: The transcription-coupled repair pathway (TC-NER) plays a vital role in removing transcription-blocking DNA lesions, particularly UV-induced damage. Clinical symptoms of the two TC-NER-deficiency syndromes, Cockayne syndrome (CS) and UV-hypersensitivity syndrome (UVSS) are dissimilar and the underlying molecular mechanism causing this difference in disease pathology is not yet clearly understood. UV-stimulated scaffold protein A (UVSSA) has been identified recently as a new causal gene for UVSS. Here we describe a functional homolog of the human UVSSA gene in the nematode Caenorhabditis elegans, uvs-1 (UVSSA-like-1). Mutations in uvs-1 render the animals hypersensitive to UV-B irradiation and transcription-blocking lesion-inducing illudin-M, similar to mutations in TC-NER deficient mutants. Moreover, we demonstrate that TC-NER factors including UVS-1 are required for the survival of the adult animals after UV-treatment.
authors.affiliation: Institute for Genome Stability in Ageing and Disease, Medical Faculty, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster for Cellular Stress Responses in Ageing-Associated Diseases (CECAD), Research Center and Centre for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Str. 26, 50931 Cologne, Germany.
authors.forename: Vipin
authors.initials: V
authors.lastname: Babu
authors.affiliation: Institute for Genome Stability in Ageing and Disease, Medical Faculty, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster for Cellular Stress Responses in Ageing-Associated Diseases (CECAD), Research Center and Centre for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Str. 26, 50931 Cologne, Germany. Electronic address: bjoern.schumacher@uni-koeln.de.
authors.forename: Björn
authors.initials: B
authors.lastname: Schumacher
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics* / Q000378:metabolism / Q000502:physiology / Q000528:radiation effects*; D029742:Caenorhabditis elegans Proteins / Q000235:genetics* / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D004260:DNA Repair / Q000187:drug effects / Q000235:genetics / Q000528:radiation effects; D006801:Humans; D008136:Longevity / Q000187:drug effects / Q000235:genetics / Q000528:radiation effects; D009154:Mutation; D018384:Oxidative Stress / Q000187:drug effects / Q000235:genetics / Q000528:radiation effects; D000081223:Polycyclic Sesquiterpenes; D012689:Sequence Homology, Nucleic Acid; D012717:Sesquiterpenes / Q000494:pharmacology; D014158:Transcription, Genetic / Q000187:drug effects / Q000528:radiation effects; D014466:Ultraviolet Rays / Q000009:adverse effects*
chemical_list: D029742:Caenorhabditis elegans Proteins; D002352:Carrier Proteins; D000081223:Polycyclic Sesquiterpenes; D012717:Sesquiterpenes; C573137:UVSSA protein, human; C000618194:uvs-1 protein, C elegans; C052673:illudin M
keywords: C. elegans; Cockayne syndrome; DNA damage; Nucleotide excision repair; UV-hypersensitivity syndrome; Ultraviolet light