Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair

Cleaver, James E.

doi:10.1007/978-0-387-09599-8_1

Cited by 10 publications

(9 citation statements)

References 78 publications

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“…[4][5][6] In addition to skin problems, approximately 20% of patients with XP have neurological complications; furthermore, clinical characteristics associated with premature ageing are common among patients with XP. 4,7 The wide range in clinical characteristics and number of lesions depends on the gene involved and the type of mutation responsible for the syndrome. XP is caused by mutations in one of eight different genes, seven of which are related to classic complementation groups (XP-A-XP-G) that affect nucleotide excision repair (NER), while the eighth, the variant form (XP-V), results from defective translesion synthesis.…”

Section: Discussionmentioning

confidence: 99%

“…The hypersensitivity to sunlight observed in patients with XP is manifested by hypo‐ and hyperpigmentation, xerosis, numerous skin lesions and, in particular, an increased incidence of skin cancer in areas exposed to light; skin cancer rates in patients with XP under the age of 20 years are 10 000 times higher than those in the general population . In addition to skin problems, approximately 20% of patients with XP have neurological complications; furthermore, clinical characteristics associated with premature ageing are common among patients with XP …”

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confidence: 99%

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A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

et al. 2017

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

et al. 2017

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“…Defects in human NER are associated with the disease xeroderma pigmentosum (57,58). In human global genome NER, the XPC/HR23B complex (59–61) is the damage recognition factor.…”

Section: Discussionmentioning

confidence: 99%

Binding of the human nucleotide excision repair proteins XPA and XPC/HR23B to the 5 R -thymine glycol lesion and structure of the cis -(5 R ,6 S ) thymine glycol epimer in the 5′-GTgG-3′ sequence: destabilization of two base pairs at the lesion site

Brown¹,

Roginskaya²,

Zou³

et al. 2009

Nucleic Acids Research

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The 5R thymine glycol (5R-Tg) DNA lesion exists as a mixture of cis-(5R,6S) and trans-(5R,6R) epimers; these modulate base excision repair. We examine the 7:3 cis-(5R,6S):trans-(5R,6R) mixture of epimers paired opposite adenine in the 5′-GTgG-3′ sequence with regard to nucleotide excision repair. Human XPA recognizes the lesion comparably to the C8-dG acetylaminoflourene (AAF) adduct, whereas XPC/HR23B recognition of Tg is superior. 5R-Tg is processed by the Escherichia coli UvrA and UvrABC proteins less efficiently than the C8-dG AAF adduct. For the cis-(5R, 6S) epimer Tg and A are inserted into the helix, remaining in the Watson–Crick alignment. The Tg N3H imine and A N6 amine protons undergo increased solvent exchange. Stacking between Tg and the 3′-neighbor G•C base pair is disrupted. The solvent accessible surface and T2 relaxation of Tg increases. Molecular dynamics calculations predict that the axial conformation of the Tg CH3 group is favored; propeller twisting of the Tg•A pair and hydrogen bonding between Tg OH6 and the N7 atom of the 3′-neighbor guanine alleviate steric clash with the 5′-neighbor base pair. Tg also destabilizes the 5′-neighbor G•C base pair. This may facilitate flipping both base pairs from the helix, enabling XPC/HR23B recognition prior to recruitment of XPA.

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“…It has been also shown that C fi T transitions are generated in human skin by UV radiation within the 310-340 nm range at 5-methylcytosine containing bipyrimidine sites in CpG rich sequences (10,16). Another indirect evidence for the implication of photoinduced damage to DNA in carcinogenicity is provided by the high incidence of skin tumors in most of the complementation groups A-G of xeroderma pigmentosum patients (17,18) who suffer from deficiencies in nucleotide excision repair (19). Understanding the biological role of UV-induced DNA damage requires an accurate determination of the nature and frequency of the photoproducts.…”

Section: Introductionmentioning

confidence: 99%

Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions^†

Cadet¹,

Mouret²,

Ravanat³

et al. 2012

Photochem & Photobiology

263

251

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The survey focuses on recent aspects of photochemical reactions to cellular DNA that are implicated through the predominant formation of mostly bipyrimidine photoproducts in deleterious effects of human exposure to sunlight. Recent developments in analytical methods have allowed accurate and quantitative measurements of the main DNA photoproducts in cells and human skin. Highly mutagenic CC and CT bipyrimidine photoproducts, including cyclobutane pyrimidine dimers and pyrimidine (6-4) pyrimidone photoproducts (6-4PPs) are generated in low yields with respect to TT and TC photoproducts. Another striking finding deals with the formation of Dewar valence isomers, the third class of bipyrimidine photoproducts that is accounted for by UVA-mediated isomerization of initially UVB generated 6-4PPs. Cyclobutadithymine (T< >T) has been unambiguously shown to be involved in the genotoxicity of UVA radiation. Thus, T< >T is formed in UVA-irradiated cellular DNA according to a direct excitation mechanism with a higher efficiency than oxidatively generated DNA damage that arises mostly through the Type II photosensitization mechanism. C<>C and C< >T are repaired at rates intermediate between those of T< >T and 6-4TT. Evidence has been also provided for the occurrence of photosensitized reactions mediated by exogenous agents that act either in an independent way or through photodynamic effects.

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Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair

Cited by 10 publications

References 78 publications

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

Binding of the human nucleotide excision repair proteins XPA and XPC/HR23B to the 5 R -thymine glycol lesion and structure of the cis -(5 R ,6 S ) thymine glycol epimer in the 5′-GTgG-3′ sequence: destabilization of two base pairs at the lesion site

Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions^†

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Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair

Cited by 10 publications

References 78 publications

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations

Binding of the human nucleotide excision repair proteins XPA and XPC/HR23B to the 5 R -thymine glycol lesion and structure of the cis -(5 R ,6 S ) thymine glycol epimer in the 5′-GTgG-3′ sequence: destabilization of two base pairs at the lesion site

Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions†

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Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions^†