title: UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells.
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.
authors.affiliation: Laboratory of Genetic Stability and Oncogenesis, UMR8200 CNRS, Institut Gustave Roussy and University Paris-Sud, 114, rue Edouard Vaillant, 94805 Villejuif, France. sarasin@igr.fr.
authors.forename: Alain
authors.initials: A
authors.lastname: Sarasin