Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells

摘要

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are DNA repair disorders that arise from mutations in nucleotide excision repair factors. A combined XP/CS phenotype results from a specific group of mutations in the XP group D (XPD) protein. The XPD protein is a subunit of transcription factor II H (TFIIH), which, together with other transcription factors, forms the RNA polymerase II preinitiation complex. At the molecular level, cells with the CS and combined XP-D/CS genotypes are characterized by a global transcriptional arrest after UV irradiation, previously thought to arise from a DNA repair deficiency.