Multiple roles of RAD2 : DNA repair , transcription, apoptosis, and aging -in the middle of cell fate control?

초록

Xeroderma pigmentosum(XP) and Cockayne syndrome(CS) are autosomal recessive disorders connected with a defect in the nucleotide excision repair(NER) pathway. NER in eukaryotes is a complex process requiring as many as 30 Proteins. In humans, a defect in NER causes XP which is characterized by extreme sun sensitivity, abnormal pigmentation, and a high incidence of skin cancer, particularly in sun exposed areas. XP patients are classified into eight complementation groups(XP-A to –G, and XP-V). Cockyne syndrome(CS), on the other hand, is characterized by severe growth retardation, with general appearance of premature aging. In addition, CS individuals suffer from impaired neurological development and mental retardation. (중략) We hypothesized that premature aginf in XPG-associated CS should be ascribed to defective transcription elongation that could result in accelerated senescence.