XPG: its products and biological roles.
Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients displays a rather mild and typical XP phenotype. Mutations in these patients interfere with the function of XPG in the nucleotide excision repair, where it has a structural role in the assembly of the preincision complex and a catalytic role in making the incision 3' to the damaged site in DNA. Another set of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex. Although the molecular basis leading to the XP/CS complex has not yet been fully established, current evidence suggests that these patients suffer from a mild defect in transcription in addition to a repair defect. Here, the history of how the XPG gene was discovered, the biochemical properties of the XPG protein and the molecular defects found in XP-G patients and mouse models are reviewed.
Schärer
Orlando D
OD
Department of Pharmacological Sciences and Chemistry, Stony Brook University, Stony Brook, NY 11974-3400, USA. orlando@pharm.stonybrook.edu
D000818:Animals; D003057:Cockayne Syndrome / Q000235:genetics; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000502:physiology*; D004195:Disease Models, Animal; D004720:Endonucleases / Q000502:physiology*; D006801:Humans; D009687:Nuclear Proteins / Q000502:physiology*; D014157:Transcription Factors / Q000502:physiology*; D014983:Xeroderma Pigmentosum / Q000235:genetics; D000099250:DNA Excision Repair Protein ERCC-5
D004268:DNA-Binding Proteins; D004720:Endonucleases; D009687:Nuclear Proteins; D014157:Transcription Factors; D000099250:DNA Excision Repair Protein ERCC-5