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. 2012 May 23;4(5):44.
doi: 10.1186/gm343.

UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells

Alain Sarasin  1
Affiliations

UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells

Alain Sarasin. Genome Med. .

Abstract

Transcription-coupled nucleotide excision repair (TC-NER) specifically removes DNA damage located in actively transcribed genes. Defects in TC-NER are associated with several human disorders, including Cockayne syndrome (CS) and ultraviolet (UV)-sensitive syndrome (UVSS). Using exome sequencing, and genetic and proteomic approaches, three recent studies have identified mutations in the UVSSA gene as being responsible for UVSS-A. These findings suggest a new mechanistic model involving UV-stimulated scaffold protein A (UVSSA) and the ubiquitin-specific protease 7 (USP7) in the fate of stalled RNA polymerase II during TC-NER, and provide insights into the diverse clinical features of CS and UVSS.

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References

    1. Hanawalt P, Spivak G. Transcription-coupled DNA repair: two decades of progress and surprises. Nat Rev Mol Cell Bio. 2008;9:958–970. doi: 10.1038/nrm2549. - DOI - PubMed
    1. Sarasin A, Stary A. New insights for understanding the transcription-coupled repair pathway. DNA Repair. 2007;6:265–269. doi: 10.1016/j.dnarep.2006.12.001. - DOI - PubMed
    1. Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie. 2003;85:1101–1111. doi: 10.1016/j.biochi.2003.09.010. - DOI - PubMed
    1. Itoh T, Ono T, Yamaizumi M. A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations. Mutat Res. 1994;314:233–248. - PubMed
    1. Spivak G. UV-sensitive syndrome. Mutat Res. 2005;577:162–169. doi: 10.1016/j.mrfmmm.2005.03.017. - DOI - PubMed