Human diseases with genetically altered DNA repair processes.

J. E. Cleaver, D. Bootsma, E. Friedberg

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


DNA repair of single-strand breaks (produced by ionizing radiation) and of base damage (produced by ultraviolet (UV) light) are two repair mechanisms that most mammalian cells possess. Genetic defects in these repair mechanisms are exemplified by cells from the human premature-aging disease, progeria, which fail to rejoin single-strand breaks, and the skin disease, xeroderma pigmentosum (XP), which exhibits high actinic carcinogenesis and involves failure to repair base damage. In terms of the response of XP cells, many chemical carcinogens can be classified as either X-ray-like (i.e., they cause damage that XP cells can repair) or UV-like (i.e., they cause damage that XP cells cannot repair). The first group contains some of the more strongly carcinogenic chemicals (e.g., alkylating agents). XP occurs in at least two clinical forms, and somatic cell hybridization indicates at least three complementation groups. In order to identify cell lines from various different laboratories unambiguously, a modified nomenclature of XP lines is proposed.

Original languageEnglish (US)
Pages (from-to)215-225
Number of pages11
Volume79 Suppl
StatePublished - Jun 1 1975

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Human diseases with genetically altered DNA repair processes.'. Together they form a unique fingerprint.

Cite this