XPG: its products and biological roles

摘要: Xeroderma pigmetosum patients of the complementation group G are rare. One XP-G displays a rather mild and typical XP phenotype. Mutations in these interfere with function XPG nucleotide excision repair, where it has structural role assembly preincision complex catalytic making incision 3' to damaged site DNA. Another set patient is much more severely affected, displaying combined symptoms xeroderma pigmentosum Cockayne syndrome, referred as XP/CS complex. Although molecular basis leading not yet been fully established, current evidence suggests that suffer from defect transcription addition repair defect. Here, history how gene was discovered, biochemical properties protein defects found mouse models reviewed.