The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
Cockayne syndrome (CS) is a rare recessive disorder characterized by a number of developmental abnormalities and premature aging. Two complementation groups (A and B) have been identified so far in CS cases. Defective transcription-coupled nucleotide excision repair is the hallmark of these patients, but in recent years evidence has been presented for a possible defect in the base excision repair pathway that removes oxidized bases. Recent results indicate that both A and B complementation groups are involved but the phenotypical consequences of this flaw remain undetermined.
Frosina
Guido
G
Department of Translational Oncology, Experimental Oncology "B" Laboratory, Istituto Nazionale Ricerca Cancro, Largo Rosanna Benzi n. 10, 16132 Genova, Italy. guido.frosina@istge.it
D001921:Brain / Q000473:pathology; D003057:Cockayne Syndrome / Q000235:genetics* / Q000473:pathology; D004249:DNA Damage; D004260:DNA Repair; D005260:Female; D006801:Humans; D008297:Male; D016296:Mutagenesis; D014158:Transcription, Genetic