Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

doi:10.1046/j.1523-1747.2000.00154.x

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Article

Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

The Journal of investigative dermatology - 1 Dec 2000

Itoh T, Linn S, Kamide R, Tokushige H, Katori N, Hosaka Y, Yamaizumi M

Abstract excerpt

Patients with xeroderma pigmentosum variant show clinical photosensitivity, skin neoplasias induced by ultraviolet light, and defective postreplication repair, but normal nucleotide excision repair. We recently reported an alternative, simple method for the diagnosis of xeroderma pigmentosum variant that measures by autoradiography three cellular markers for DNA repair after ultraviolet irradiation: unscheduled...

Topics

Adult
Aged
Aged, 80 and over
Caffeine
Child, Preschool
DNA Repair
DNA Replication
Family Health
Female
Genetic Variation
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Mutation

Pedigree

Ultraviolet Rays

Xeroderma Pigmentosum

Source

Open in PubMed

Identifiers

PMID: 11121129
DOI: 10.1046/j.1523-1747.2000.00154.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.PMID 11121129Read ↗

A simple method for diagnosing xeroderma pigmentosum variant.Semantic proximity Read ↗

Abnormal, error-prone bypass of photoproducts by xeroderma pigmentosum variant cell extracts results in extreme strand bias for the kinds of mutations induced by UV light.Semantic proximity Read ↗

A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.Semantic proximity Read ↗

Non-radioisotope method for diagnosing photosensitive genodermatoses and a new marker for xeroderma pigmentosum variant.Semantic proximity Read ↗

Evidence from mutation spectra that the UV hypermutability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoproducts.Semantic proximity Read ↗

Repair of damaged DNA by extracts from a xeroderma pigmentosum complementation group A revertant and expression of a protein absent in its parental cell line.Semantic proximity Read ↗

Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids.Semantic proximity Read ↗

Increased ultraviolet sensitivity and chromosomal instability related to P53 function in the xeroderma pigmentosum variant.Semantic proximity Read ↗

Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells.Semantic proximity Read ↗

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.Semantic proximity Read ↗

Repair of DNA damage in shuttle vectors, virus, and chromosomal DNAs may depend on their biological imprinting--a 'Pygmalion' effect.Semantic proximity Read ↗

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.Semantic proximity Read ↗

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