The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes
Abstract
The human XPB DNA helicase is a subunit of the DNA repair/basal transcription factor TFIIH, involved in early steps of the nucleotide excision repair pathway. Two distinct clinical phenotypes, xeroderma pigmentosum associated with Cockayne's syndrome (XP/CS) and trichothiodystrophy (TTD), can be due to mutations in the XPB gene. In the present work, we studied cellular DNA repair properties of skin fibro-blasts from two patients mutated in the XPB gene: an XP/CS patient cell (XPCS2BA) with a T296C (F99S) transition and a TTD patient cell (TTD6VI) exhibiting an A355C (T119P) transversion. Both cells are clearly associated with different levels of alterations in their response to UV light. To establish the relationship between the relative expression level of these two alleles and DNA repair properties, we transfected SV40-transformed XPCS2BA (XPCS2BASV) cells with a plasmid (pTTD6VI) carrying the XPB-A355C cDNA and examined DNA repair properties after UV irradiation (cell survival, unscheduled DNA synthesis and kinetics of photoproduct removal) in stable transfectants. We isolated three clones, which express the XPB-A355C gene (Cl-5) or the XPB-T296C gene (Cl-14) or both genes (Cl-19). This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD.
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Only 60% of CPDs are excised within the first 24 hours after UVC exposure in normal human cells.
“In contrast, only 60% of CPDs are excised within the first 24 h after UVC exposure in normal human cells [5,6].”
From Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome (2014) · cites this paper as [6]
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- Authors
- Riou, L.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Riou, L
- ORCID
- Riou, L
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-06-01
- Volume
- 8
- Issue
- 6
- Pages
- 1125-1133
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2147603151
- Cited by
- 65
- References
- 27
- Citations by year
- 2025: 1 · 2020: 4 · 2019: 3 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 2 · 2014: 2 · 2013: 2 · 2012: 4
- FWCI
- 2.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- HAL (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Koninklijke Nederlandse Akademie van Wetenschappen
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, nucleotide excision repair, TFIIH, UV-induced DNA repair, unscheduled DNA synthesis, allele-specific expression, dermal fibroblasts, cDNA transfection
- MeSH terms
- Cell Line, Transformed, Child, Child, Preschool, Cockayne Syndrome, DNA, DNA Repair, DNA Helicases, DNA-Binding Proteins, Gene Expression Regulation, Hair Diseases, Humans, Male, Middle Aged, Mutation, Pyrimidine Dimers, Recombinant Fusion Proteins, Transfection, Ultraviolet Rays, Xeroderma Pigmentosum, DNA, Complementary
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