UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair

Nat Genet. 2012 May;44(5):598-602. doi: 10.1038/ng.2230.

Abstract

Transcription-coupled nucleotide-excision repair (TC-NER) is a subpathway of NER that efficiently removes the highly toxic RNA polymerase II blocking lesions in DNA. Defective TC-NER gives rise to the human disorders Cockayne syndrome and UV-sensitive syndrome (UV(S)S). NER initiating factors are known to be regulated by ubiquitination. Using a SILAC-based proteomic approach, we identified UVSSA (formerly known as KIAA1530) as part of a UV-induced ubiquitinated protein complex. Knockdown of UVSSA resulted in TC-NER deficiency. UVSSA was found to be the causative gene for UV(S)S, an unresolved NER deficiency disorder. The UVSSA protein interacts with elongating RNA polymerase II, localizes specifically to UV-induced lesions, resides in chromatin-associated TC-NER complexes and is implicated in stabilizing the TC-NER master organizing protein ERCC6 (also known as CSB) by delivering the deubiquitinating enzyme USP7 to TC-NER complexes. Together, these findings indicate that UVSSA-USP7–mediated stabilization of ERCC6 represents a critical regulatory mechanism of TC-NER in restoring gene expression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / antagonists & inhibitors
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism*
  • Cells, Cultured
  • Chromatin / genetics
  • Cockayne Syndrome / genetics*
  • DNA Damage / genetics
  • DNA Damage / radiation effects
  • DNA Helicases / chemistry*
  • DNA Helicases / genetics
  • DNA Repair / genetics*
  • DNA Repair / radiation effects
  • DNA Repair Enzymes / chemistry*
  • DNA Repair Enzymes / genetics
  • Humans
  • Immunoprecipitation
  • Mutation / genetics
  • Poly-ADP-Ribose Binding Proteins
  • Proteomics
  • RNA Polymerase II / metabolism
  • RNA, Small Interfering / genetics
  • Transcription, Genetic*
  • Ubiquitin / metabolism*
  • Ubiquitin Thiolesterase / genetics
  • Ubiquitin Thiolesterase / metabolism*
  • Ubiquitin-Specific Peptidase 7
  • Ultraviolet Rays

Substances

  • Carrier Proteins
  • Chromatin
  • Poly-ADP-Ribose Binding Proteins
  • RNA, Small Interfering
  • UVSSA protein, human
  • Ubiquitin
  • RNA Polymerase II
  • USP7 protein, human
  • Ubiquitin Thiolesterase
  • Ubiquitin-Specific Peptidase 7
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes