Open AccessXERODERMA PIGMENTOSUM: A HUMAN DISEASE IN WHICH AN INITIAL STAGE OF DNA REPAIR IS DEFECTIVE
Author(s) -
James E. Cleaver
Publication year - 1969
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.63.2.428
Subject(s) - xeroderma pigmentosum , nucleotide excision repair , dna damage , dna repair , base excision repair , carcinogenesis , biology , dna , mutagenesis , genetics , mutation , microbiology and biotechnology , cancer , gene
Homozygous xeroderma pigmentosum fibroblasts cannot repair damage to DNA bases, but can repair damage that involves chain breaks. In xeroderma pigmentosum, therefore, there is a defect in an early step in repair at which base damage is recognized and the polynucleotide chain broken enzymatically (by an endonuclease). Heterozygous fibroblasts repair base damage to normal extents. Carcinogenesis in xeroderma pigmentosum, and perhaps in some normal individuals, may be the result of somatic mutations caused by unrepaired damage.