The DOI matches its Crossref record; 65 of the 67 references it cites were found in a registry or an index.
Replication of damaged DNA: molecular defect in Xeroderma pigmentosum variant cells
Abstract
Individuals with Xeroderma pigmentosum (XP) syndrome have a genetic predisposition to sunlight-induced skin cancer. Genetically different forms of XP have been identified by cell fusion. Cells of individuals expressing the classical form of XP (complementation groups A through G) are deficient in the nucleotide excision repair (NER) pathway. In contrast, the cells belonging to the variant class of XP (XPV) are NER-proficient and are only slightly more sensitive than normal cells to the killing action of UV light radiation. The XPV fibroblasts replicate damaged DNA generating abnormally short fragments either in vivo [A.R. Lehmann, The relationship between pyramidine dimers and replicating DNA in UV-irradiated human fibroblasts, Nucleic Acids Res. 7 (1979) 1901-1912; S.D. Park, J.E. Cleaver, Postreplication repair: question of its definition and possible alteration in Xeroderma pigmentosum cell strains, Proc. Natl. Acad. Sci. U.S.A. 76 (1979) 3927-3931.] or in vitro [S.M. Cordeiro, L.S. Zaritskaya, L.K. Price, W.K. Kaufmann, Replication fork bypass of a pyramidine dimer blocking leading strand DNA synthesis, J. Biol. Chem. 272 (1997) 13945-13954; D.L. Svoboda, L.P. Briley, J.M. Vos, Defective bypass replication of a leading strand cyclobutane thymine dimer in Xeroderma pigmentosum variant cell extracts, Cancer Res. 58 (1998) 2445-2448; I. Ensch-Simon, P.M. Burgers, J.S. Taylor, Bypass of a site-specific cis-syn thymine dimer in an SV40 vector during in vitro replication by HeLa and XPV cell-free extracts, Biochemistry 37 (1998) 8218-8226.], suggesting that in XPV cells, replication has an increased probability of being blocked at a lesion. Furthermore, extracts from XPV cells were found to be defective in translesion synthesis [A. Cordonnier, A.R. Lehmann, R.P.P. Fuchs, Impaired translesion synthesis in Xeroderma pigmentosum variant extracts, Mol. Cell. Biol. 19 (1999) 2206-2211.]. Recently, Masutani et al. [C. Masutani, M. Araki, A. Yamada, R. Kusomoto, T. Nogimori, T. Maekawa, S. Iwai, F. Hanaoka, Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity, EMBO J. 18 (1999) 3491-3501.] have shown that the XPV defect can be corrected by a novel human DNA polymerase, homologue to the yeast DNA polymerase eta, which is able to replicate past cyclobutane pyrimidine dimers in DNA templates. This review focuses on our current understanding of translesion synthesis in mammalian cells whose defect, unexpectedly, is responsible for the hypermutability of XPV cells and for the XPV pathology.
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“Because UVC sensitization by caffeine (CAF) is a hallmark of the XP-V cell phenotype [11,22,37]”
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 [22]
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Cites
The p21 inhibitor of cyclin-dependent kinases controls DNA replication by interaction with PCNA
Waga, S., Hannon, G. J., Beach, D., & Stillman, B. (1994) · Nature · doi:10.1038/369574a0 · Cited by 1,655
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., & Hanaoka, F. (1999) · Nature · doi:10.1038/21447 · Cited by 1,292
Efficient Bypass of a Thymine-Thymine Dimer by Yeast DNA Polymerase, Polη
Johnson, R. E., Prakash, S., & Prakash, L. (1999) · Science · doi:10.1126/science.283.5404.1001 · Cited by 736
hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
Johnson, R. E., Kondratick, C. M., Prakash, S., & Prakash, L. (1999) · Science · doi:10.1126/science.285.5425.263 · Cited by 732
Lehman, A. R., Kirk-Bell, S., Arlett, C. F., Paterson, M. C., Lohman, P. H., de Weerd-Kastelein, E. A., & Bootsma, D. (1975) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.72.1.219 · Cited by 614
Deoxycytidyl transferase activity of yeast REV1 protein
Nelson, J. R., Lawrence, C. W., & Hinkle, D. C. (1996) · Nature · doi:10.1038/382729a0 · Cited by 583
The dinB Gene Encodes a Novel E. coli DNA Polymerase, DNA Pol IV, Involved in Mutagenesis
Wagner, J. E., Grúz, P., Kim, S.-R., Yamada, M., Matsui, K., Fuchs, R. P., & Nohmi, T. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80376-7 · Cited by 474
Self-citationA model for replication repair in mammalian cells
Higgins, N. P., Kato, K., & Strauss, B. S. (1976) · Journal of Molecular Biology · doi:10.1016/0022-2836(76)90156-x · Cited by 444
Postreplication repair of DNA in ultraviolet-irradiated mammalian cells
Lehmann, A. R. (1972) · Journal of Molecular Biology · doi:10.1016/0022-2836(72)90418-4 · Cited by 437
Masutani, C., Araki, M., Yamada, A., Kusumoto, R., Nogimori, T., Maekawa, T., Iwai, S., & Hanaoka, F. (1999) · The EMBO Journal · doi:10.1093/emboj/18.12.3491 · Cited by 434
Research works printed but not linked: 1
- J.P. McDonald, V. Rapic-Otrin, J.A. Epstein, X. Wang, D.J. Wolgemuth, R. Woodgate, Genomics (1999) in press.
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Mechanisms of accurate translesion synthesis by human DNA polymerase η
Masutani, C., Kusumoto, R., Iwai, S., & Hanaoka, F. (2000) · The EMBO Journal · doi:10.1093/emboj/19.12.3100 · Cited by 504
Napolitano, R. L., Janel‐Bintz, R., Wagner, J. E., & Fuchs, R. P. (2000) · The EMBO Journal · doi:10.1093/emboj/19.22.6259 · Cited by 403
Self-citationError-prone bypass of certain DNA lesions by the human DNA polymerase κPreprint
Ohashi, E., Ogi, T., Kusumoto, R., Iwai, S., Masutani, C., Hanaoka, F., & Ohmori, H. (2000) · Genes & Development · doi:10.1101/gad.14.13.1589 · Cited by 282
How DNA lesions are turned into mutations within cells?
Pagès, V., & Fuchs, R. P. (2002) · Oncogene · doi:10.1038/sj.onc.1206006 · Cited by 237
Self-citationDual Roles for DNA Polymerase η in Homologous DNA Recombination and Translesion DNA Synthesis
Kawamoto, T., Araki, K., Sonoda, E., Yamashita, Y. M., Harada, K. H., Kikuchi, K., Masutani, C., Hanaoka, F., Nozaki, K., Hashimoto, N., et al. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.10.016 · Cited by 231
Metadata
- Authors
- Cordonnier, A. M., & Fuchs, R. P. P.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Fuchs, Robert P.P
- Venue
- Mutation Research/DNA Repair
- Publisher
- Elsevier BV
- Published
- 1999-10
- Volume
- 435
- Issue
- 2
- Pages
- 111-119
- ISSN
- 0921-8777 (ISSN-L)
- OpenAlex
- W2014999904
- Cited by
- 113
- References
- 67
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 1 · 2018: 6 · 2017: 2 · 2016: 5 · 2015: 2 · 2014: 2 · 2013: 5 · 2012: 10
- FWCI
- 3.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mutation Research/DNA Repair (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- DNA replication, DNA damage, thymine dimers, cyclobutane thymine dimers, postreplication repair, translesion synthesis, nucleotide excision repair, replication fork stalling, DNA polymerase, UV-induced DNA damage, skin cancer predisposition
- MeSH terms
- Animals, DNA Damage, DNA Replication, Humans, Xeroderma Pigmentosum
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