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Science 9 July 1999: Vol. 285. no. 5425, pp. 263 - 265 DOI: 10.1126/science.285.5425.263
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Reports
hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
Robert E. Johnson,
Christine M. Kondratick,
Satya Prakash,
Louise Prakash
*
Xeroderma pigmentosum (XP) is an autosomal recessive
disease characterized by a high incidence of skin cancers. Yeast
RAD30 encodes a DNA polymerase involved in the error-free
bypass of ultraviolet (UV) damage. Here it is shown that XP
variant (XP-V) cell lines harbor nonsense or frameshift
mutations in hRAD30, the human counterpart of yeast
RAD30. Of the eight mutations identified, seven would result
in a severely truncated hRad30 protein. These results indicate that
defects in hRAD30 cause XP-V, and they suggest that
error-free replication of UV lesions by hRad30 plays an important role
in minimizing the incidence of sunlight-induced skin cancers.
Sealy Center for Molecular Science, University of Texas
Medical Branch at Galveston, 6.104 Medical Research Building, 11th and
Mechanic Streets, Galveston, TX 77555-1061, USA.
*
To whom correspondence should be addressed. E-mail:
lprakash{at}scms.utmb.edu
Read the Full Text
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32, 4665-4675
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- M. T. Washington, I. G. Minko, R. E. Johnson, L. Haracska, T. M. Harris, R. S. Lloyd, S. Prakash, and L. Prakash (2004)
Mol. Cell. Biol.
24, 6900-6906
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Genetics
167, 1597-1610
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279, 32932-32940
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Mol. Cell. Biol.
23, 8316-8322
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Genes & Dev.
17, 2777-2785
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- Enhanced Genomic Instability and Defective Postreplication Repair in RAD18 Knockout Mouse Embryonic Stem Cells.
- S. Tateishi, H. Niwa, J.-I. Miyazaki, S. Fujimoto, H. Inoue, and M. Yamaizumi (2003)
Mol. Cell. Biol.
23, 474-481
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- Nucleotide Excision Repair- and Polymerase {eta}-Mediated Error-Prone Removal of Mitomycin C Interstrand Cross-Links.
- H. Zheng, X. Wang, A. J. Warren, R. J. Legerski, R. S. Nairn, J. W. Hamilton, and L. Li (2003)
Mol. Cell. Biol.
23, 754-761
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- Translesion Synthesis past Acrolein-derived DNA Adduct, gamma -Hydroxypropanodeoxyguanosine, by Yeast and Human DNA Polymerase eta.
- I. G. Minko, M. T. Washington, M. Kanuri, L. Prakash, S. Prakash, and R. S. Lloyd (2003)
J. Biol. Chem.
278, 784-790
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- A Role for DNA Polymerase beta in Mutagenic UV Lesion Bypass.
- L. Servant, C. Cazaux, A. Bieth, S. Iwai, F. Hanaoka, and J.-S. Hoffmann (2002)
J. Biol. Chem.
277, 50046-50053
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- Role of human DNA polymerase kappa as an extender in translesion synthesis.
- L. Haracska, L. Prakash, and S. Prakash (2002)
PNAS
99, 16000-16005
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- Involvement of Vertebrate Polkappa in Rad18-independent Postreplication Repair of UV Damage.
- T. Okada, E. Sonoda, Y. M. Yamashita, S. Koyoshi, S. Tateishi, M. Yamaizumi, M. Takata, O. Ogawa, and S. Takeda (2002)
J. Biol. Chem.
277, 48690-48695
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- Polkappa protects mammalian cells against the lethal and mutagenic effects of benzo[a]pyrene.
- T. Ogi, Y. Shinkai, K. Tanaka, and H. Ohmori (2002)
PNAS
99, 15548-15553
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- The Role of Polymerase {eta} in Somatic Hypermutation Determined by Analysis of Mutations in a Patient with Xeroderma Pigmentosum Variant.
- S. Yavuz, A. S. Yavuz, K. H. Kraemer, and P. E. Lipsky (2002)
J. Immunol.
169, 3825-3830
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- Translesion DNA synthesis in eukaryotes: A one- or two-polymerase affair.
- S. Prakash and L. Prakash (2002)
Genes & Dev.
16, 1872-1883
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- DNA damage responses protect xeroderma pigmentosum variant from UVC-induced clastogenesis.
- M. Cordeiro-Stone, A. Frank, M. Bryant, I. Oguejiofor, S. B. Hatch, L. D. McDaniel, and W. K. Kaufmann (2002)
Carcinogenesis
23, 959-966
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- Low Fidelity DNA Synthesis by a Y Family DNA Polymerase Due to Misalignment in the Active Site.
- R. J. Kokoska, K. Bebenek, F. Boudsocq, R. Woodgate, and T. A. Kunkel (2002)
J. Biol. Chem.
277, 19633-19638
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- Human DNA polymerase mu (Pol {micro}) exhibits an unusual replication slippage ability at AAF lesion.
- J.-B. Duvauchelle, L. Blanco, R. P. P. Fuchs, and A. M. Cordonnier (2002)
Nucleic Acids Res.
30, 2061-2067
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- Posttranslational modification of the umuD-encoded subunit of Escherichia coli DNA polymerase V regulates its interactions with the beta processivity clamp.
- M. D. Sutton, I. Narumi, and G. C. Walker (2002)
PNAS
99, 5307-5312
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- Response of human REV1 to different DNA damage: preferential dCMP insertion opposite the lesion.
- Y. Zhang, X. Wu, O. Rechkoblit, N. E. Geacintov, J.-S. Taylor, and Z. Wang (2002)
Nucleic Acids Res.
30, 1630-1638
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- Preferential Misincorporation of Purine Nucleotides by Human DNA Polymerase eta Opposite Benzo[a]pyrene 7,8-Diol 9,10-Epoxide Deoxyguanosine Adducts.
- D. Chiapperino, H. Kroth, I. H. Kramarczuk, J. M. Sayer, C. Masutani, F. Hanaoka, D. M. Jerina, and A. M. Cheh (2002)
J. Biol. Chem.
277, 11765-11771
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- Quantitative measurement of translesion replication in human cells: Evidence for bypass of abasic sites by a replicative DNA polymerase.
- S. Avkin, S. Adar, G. Blander, and Z. Livneh (2002)
PNAS
99, 3764-3769
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- UV-induced T->C transition at a TT photoproduct site is dependent on Saccharomyces cerevisiae polymerase {eta}in vivo.
- H. Zhang and W. Siede (2002)
Nucleic Acids Res.
30, 1262-1267
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- Stimulation of DNA Synthesis Activity of Human DNA Polymerase {kappa} by PCNA.
- L. Haracska, I. Unk, R. E. Johnson, B. B. Phillips, J. Hurwitz, L. Prakash, and S. Prakash (2002)
Mol. Cell. Biol.
22, 784-791
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- Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
- B. C. Broughton, A. Cordonnier, W. J. Kleijer, N. G. J. Jaspers, H. Fawcett, A. Raams, V. H. Garritsen, A. Stary, M.-F. Avril, F. Boudsocq, et al. (2002)
PNAS
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