The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome

Guido Frosina

doi:10.1016/j.freeradbiomed.2007.04.001

The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome

Guido Frosina

A.O.U. San Martino - IST, Istituto Nazionale Ricerca sul Cancro (GENOVA)

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	165-177
Number of pages	13
Journal	Free Radical Biology and Medicine
Volume	43
Issue number	2
DOIs	https://doi.org/10.1016/j.freeradbiomed.2007.04.001
Publication status	Published - Jul 15 2007

Keywords

8-Oxo-7,8-dihydroguanine
Aging
Cockayne syndrome
DNA base excision repair
Free radicals
Glycosylase
Mutation
Neurological deterioration
Oxidative DNA damage
Transcription-coupled repair

ASJC Scopus subject areas

Medicine(all)
Toxicology
Clinical Biochemistry

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abstract = "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.",

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AB - 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.

KW - 8-Oxo-7,8-dihydroguanine

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The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome

Abstract

Keywords

ASJC Scopus subject areas

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