In its long nucleotide-chains, the DNA double helix contains the genetic information for ten thousands of proteins. The DNA molecule, however, is subject to constant change. In order to l11ailltaill its integrity, several luechallisms that cope with DNA damage, inflicted byvarious naturally occurring and man-made agents, have evolved. Individuals with the rare genetic disease xeroderma pigmentosum demonstrate the importance of DNA repair systems. These patients carry a defect in proteins that are involved in the removal ofUV-induced damage from the DNA, which results in sun-sensitivity and the frequent occurrence of skin cancers, Hence, studies on DNA repair and human repah' disorders such as xeroderma pigmentosum help our understanding of the origin of cancer and processes like aging. This introduction briefly reviews our current knowledge of different types of DNA damage and DNA repair processes, with an emphasis on the nucleotide excision repair pathway. Xeroderma pigmentosum and other human repair disorders are dealt with later in the chapter.

DNA damage, DNA repair, genetics, hereditary disease
D. Bootsma (Dirk) , J.H.J. Hoeijmakers (Jan)
Erasmus University Rotterdam
Nederlandse vereniging voor Wetenschappelijk Onderzoek (NWO),
hdl.handle.net/1765/19776
Erasmus MC: University Medical Center Rotterdam

Sijbers, A.M. (1999, March 31). The ERCC1-xeroderma pigmentosum group F DNA repair complex. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/19776