Nucleotide excision repair: variations associated with cancer development and speciation.
Nucleotide excision repair requires the action of multiple interacting proteins that locate damage in DNA, remove it as a short oligonucleotide and synthesize a replacement patch. Mutations in genes coding for these proteins give rise to a wide range of diseases involving skin carcinogenesis, neuronal decline and developmental disorders of bone and central nervous system. Complex clinical symptoms of more than one clinical disorder may occur because of mutations that influence protein-protein interactions. Significant differences in repair occur between individuals and species for which the molecular basis and phenotypic consequences have yet to be explained.
Cleaver
J E
JE
Laboratory of Radiobiology and Environmental Health, University of California, San Francisco 94143-0750, USA.
Speakman
J R
JR
Volpe
J P
JP
D000818:Animals; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D003057:Cockayne Syndrome / Q000235:genetics; D004260:DNA Repair; D005808:Genes, Recessive; D014644:Genetic Variation; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism; D013045:Species Specificity; D014158:Transcription, Genetic; D014983:Xeroderma Pigmentosum / Q000235:genetics