On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations.

ABSTRACT: Mutations in the human gene coding for XPD lead to segmental progeria - the premature appearance of some of the phenotypes normally associated with aging - which may or may not be accompanied by increased cancer incidence. XPD is required for at least three different critical cellular functions: in addition to participating in the process of nucleotide excision repair (NER), which removes bulky DNA lesions, XPD also regulates transcription as part of the general transcription factor IIH (TFIIH) and controls cell cycle progression through its interaction with CAK, a pivotal activator of cyclin dependent kinases (CDKs). The study of inherited XPD disorders offers the opportunity to gain insights into the coordination of important cellular events and may shed light on the mechanisms that regu

SUBMITTER: Cameroni E 

PROVIDER: S-EPMC2949746 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature