hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
Abstract
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.
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Germline mutations in POLH cause the variant form of xeroderma pigmentosum, XPV.
“Germline mutations in the gene (POLH) encoding DNA pol h result in XPV, a variant type of xeroderma pigmentosum 25 .”
From DNA polymerase <b>η</b> mutational signatures are found in a variety of different types of cancer (2018) · cites this paper as [25]
Cites
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 · see citing works
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Genome maintenance mechanisms for preventing cancer
Hoeijmakers, J. H. J. (2001) · Nature · doi:10.1038/35077232 · Cited by 3,939 · see citing works
DNA repair pathways as targets for cancer therapy
Helleday, T., Petermann, E., Lundin, C., Hodgson, B., & Sharma, R. A. (2008) · Nature Reviews Cancer · doi:10.1038/nrc2342 · Cited by 1,666 · see citing works
Kunkel, T. A., & Bebenek, K. (2000) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.69.1.497 · Cited by 1,003 · see citing works
Interaction of Human DNA Polymerase η with Monoubiquitinated PCNA
Kannouche, P. L., Wing, J., & Lehmann, A. R. (2004) · Molecular Cell · doi:10.1016/s1097-2765(04)00259-x · Cited by 845 · see citing works
Error-Prone Repair DNA Polymerases in Prokaryotes and Eukaryotes
Goodman, M. F. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.083101.124707 · Cited by 727 · see citing works
Y-family DNA polymerases and their role in tolerance of cellular DNA damage
Sale, J. E., Lehmann, A. R., & Woodgate, R. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3289 · Cited by 665 · see citing works
Eukaryotic polymerases ι and ζ act sequentially to bypass DNA lesions
Johnson, R. E., Washington, M. T., Haracska, L., Prakash, S., & Prakash, L. (2000) · Nature · doi:10.1038/35023030 · Cited by 632 · see citing works
Self-citationEukaryotic Translesion Polymerases and Their Roles and Regulation in DNA Damage Tolerance
Waters, L. S., Minesinger, B. K., Wiltrout, M. E., D'Souza, S., Woodruff, R. V., & Walker, G. C. (2009) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00034-08 · Cited by 591 · see citing works
Shining a light on xeroderma pigmentosum
DiGiovanna, J. J., & Kraemer, K. H. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.426 · Cited by 547 · see citing works
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 · see citing works
UV wavelength-dependent DNA damage and human non-melanoma and melanoma skin cancer
Pfeifer, G. P., & Besaratinia, A. (2012) · Photochemical & Photobiological Sciences · doi:10.1039/c1pp05144j · Cited by 473 · see citing works
Cancer in xeroderma pigmentosum and related disorders of DNA repair
Cleaver, J. E. (2005) · Nature Reviews Cancer · doi:10.1038/nrc1652 · Cited by 427 · see citing works
DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes
Zeng, X., Winter, D. B., Kasmer, C., Kraemer, K. H., Lehmann, A. R., & Gearhart, P. J. (2001) · Nature Immunology · doi:10.1038/88740 · Cited by 420 · see citing works
Recombinational DNA repair and human disease
Thompson, L. H., & Schild, D. (2002) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/s0027-5107(02)00224-5 · Cited by 417 · see citing works
Translesion synthesis: Y-family polymerases and the polymerase switch
LEHMANN, A., NIIMI, A., OGI, T., BROWN, S., SABBIONEDA, S., WING, J., KANNOUCHE, P., & GREEN, C. (2007) · DNA Repair · doi:10.1016/j.dnarep.2007.02.003 · Cited by 389 · see citing works
Low fidelity DNA synthesis by human DNA polymerase-η
Matsuda, T., Bebenek, K., Masutani, C., Hanaoka, F., & Kunkel, T. A. (2000) · Nature · doi:10.1038/35010014 · Cited by 372 · see citing works
Reardon, J. T., & Sancar, A. (2005) · Progress in Nucleic Acid Research and Molecular Biology · doi:10.1016/s0079-6603(04)79004-2 · Cited by 350 · see citing works
Translesion DNA synthesis in eukaryotes: A one- or two-polymerase affair
Prakash, S., & Prakash, L. (2002) · Genes & Development · doi:10.1101/gad.1009802 · Cited by 344 · see citing works
Self-citationGoodman, M. F., & Woodgate, R. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a010363 · Cited by 317 · see citing works
polι, a remarkably error-prone human DNA polymerase
Tissier, A., McDonald, J. P., Frank, E. G., & Woodgate, R. (2000) · Genes & Development · doi:10.1101/gad.14.13.1642 · Cited by 315 · see citing works
Somatic mutation hotspots correlate with DNA polymerase η error spectrum
Rogozin, I. B., Pavlov, Y. I., Bebenek, K., Matsuda, T., & Kunkel, T. A. (2001) · Nature Immunology · doi:10.1038/88732 · Cited by 298 · see citing works
Translesion DNA Synthesis and Mutagenesis in Eukaryotes
Sale, J. E. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012708 · Cited by 282 · see citing works
Two-polymerase mechanisms dictate error-free and error-prone translesion DNA synthesis in mammals
Shachar, S., Ziv, O., Avkin, S., Adar, S., Wittschieben, J., Reißner, T., Chaney, S., Friedberg, E. C., Wang, Z., Carell, T., et al. (2009) · The EMBO Journal · doi:10.1038/emboj.2008.281 · Cited by 284 · see citing works
Molecular Mechanisms of DNA Damage and Repair: Progress in Plants
Tuteja, N., Singh, M. B., Misra, M. K., Bhalla, P. L., & Tuteja, R. (2001) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/20014091074219 · Cited by 272 · see citing works
Preferential cis–syn thymine dimer bypass by DNA polymerase η occurs with biased fidelity
McCulloch, S. D., Kokoska, R. J., Masutani, C., Iwai, S., Hanaoka, F., & Kunkel, T. A. (2004) · Nature · doi:10.1038/nature02352 · Cited by 246 · see citing works
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 · see citing works
Ünsal-Kaçmaz, K., Chastain, P. D., Qu, P.-P., Minoo, P., Cordeiro-Stone, M., Sancar, A., & Kaufmann, W. K. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.02190-06 · Cited by 240 · see citing works
Replication of a cis–syn thymine dimer at atomic resolution
Ling, H., Boudsocq, F., Plosky, B. S., Woodgate, R., & Yang, W. (2003) · Nature · doi:10.1038/nature01919 · Cited by 216 · see citing works
Limoli, C. L., Giedzinski, E., Bonner, W. M., & Cleaver, J. E. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.231611798 · Cited by 210 · see citing works
Fassihi, H., Sethi, M., Fawcett, H., Wing, J., Chandler, N., Mohammed, S., Craythorne, E., Morley, A. M. S., Lim, R., Turner, S., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1519444113 · Cited by 199 · see citing works
Preferential Incorporation of G Opposite Template T by the Low-Fidelity Human DNA Polymerase ι
Zhang, Y., Yuan, F., Wu, X., & Wang, Z. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.19.7099-7108.2000 · Cited by 200 · see citing works
Fidelity and Processivity of Saccharomyces cerevisiae DNA Polymerase η
Washington, M. T., Johnson, R. E., Prakash, S., & Prakash, L. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.52.36835 · Cited by 181 · see citing works
Self-citationStructural Insights into the Origins of DNA Polymerase Fidelity
Beard, W. A., & Wilson, S. H. (2003) · Structure · doi:10.1016/s0969-2126(03)00051-0 · Cited by 157 · see citing works
Nucleotide excision repair and cancer
Leibeling, D., Laspe, P., & Emmert, S. (2006) · Journal of Molecular Histology · doi:10.1007/s10735-006-9041-x · Cited by 164 · see citing works
PCNA Ubiquitination Is Important, But Not Essential for Translesion DNA Synthesis in Mammalian Cells
Hendel, A., Krijger, P. H. L., Diamant, N., Goren, Z., Langerak, P., Kim, J., Reißner, T., Lee, K.-Y., Geacintov, N. E., Carell, T., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002262 · Cited by 132 · see citing works
Factors that influence the mutagenic patterns of DNA adducts from chemical carcinogens
Seo, K.-Y., Jelinsky, S. A., & Loechler, E. L. (2000) · Mutation Research/Reviews in Mutation Research · doi:10.1016/s1383-5742(00)00047-8 · Cited by 126 · see citing works
Kunkel, T. A., Pavlov, Y. I., & Bebenek, K. (2003) · DNA Repair · doi:10.1016/s1568-7864(02)00224-0 · Cited by 125 · see citing works
Yeast DNA Polymerase η Utilizes an Induced-Fit Mechanism of Nucleotide Incorporation
Washington, M. T., Prakash, L., & Prakash, S. (2001) · Cell · doi:10.1016/s0092-8674(01)00613-4 · Cited by 123 · see citing works
Self-citationWang, Y., Woodgate, R., McManus, T. P., Mead, S., McCormick, J. J., & Maher, V. M. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-3073 · Cited by 120 · see citing works
Replication of damaged DNA: molecular defect in xeroderma pigmentosum variant cells
Cordonnier, A. M., & Fuchs, R. P. P. (1999) · Mutation Research/DNA Repair · doi:10.1016/s0921-8777(99)00047-6 · Cited by 113 · see citing works
Lesion bypass in yeast cells: Pol η participates in a multi‐DNA polymerase process
Bresson, A., & Fuchs, R. P. P. (2002) · The EMBO Journal · doi:10.1093/emboj/cdf363 · Cited by 112 · see citing works
Diamant, N., Hendel, A., Vered, I., Carell, T., Reißner, T., de Wind, N., Geacinov, N., & Livneh, Z. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr596 · Cited by 109 · see citing works
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
Emmert, S., Slor, H., Busch, D. B., Batko, S., Albert, R. B., Coleman, D., Khan, S. G., Abu-Libdeh, B., DiGiovanna, J. J., Cunningham, B. B., et al. (2002) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2002.01782.x · Cited by 111 · see citing works
Liu, G., & Chen, X. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.26.4.1398-1413.2006 · Cited by 104 · see citing works
Increased Susceptibility to UV-Induced Skin Carcinogenesis in Polymerase η–deficient Mice
Lin, Q., Clark, A. B., McCulloch, S. D., Yuan, T., Bronson, R. T., Kunkel, T. A., & Kucherlapati, R. (2006) · Cancer Research · doi:10.1158/0008-5472.can-05-1862 · Cited by 95 · see citing works
Molecular genetics of xeroderma pigmentosum variant
Gratchev, A., Strein, P., Utikal, J., & Goerdt, S. (2003) · Experimental Dermatology · doi:10.1034/j.1600-0625.2003.00124.x · Cited by 83 · see citing works
Xeroderma pigmentosum genes: Functions inside and outside DNA repair
Sugasawa, K. (2007) · Carcinogenesis · doi:10.1093/carcin/bgm282 · Cited by 83 · see citing works
Despras, E., Daboussi, F., Hyrien, O., Marheineke, K., & Kannouche, P. L. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq046 · Cited by 80 · see citing works
Boudsocq, F. (2002) · DNA Repair · doi:10.1016/s1568-7864(02)00019-8 · Cited by 79 · see citing works
UV-DDB-dependent regulation of nucleotide excision repair kinetics in living cells
Nishi, R., Alekseev, S., Dinant, C., Hoogstraten, D., Houtsmuller, A. B., Hoeijmakers, J. H. J., Vermeulen, W., Hanaoka, F., & Sugasawa, K. (2009) · DNA Repair · doi:10.1016/j.dnarep.2009.02.004 · Cited by 76 · see citing works
Proofreading of DNA Polymerase η-dependent Replication Errors
Bebenek, K., Matsuda, T., Masutani, C., Hanaoka, F., & Kunkel, T. A. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.c000690200 · Cited by 76 · see citing works
USP7 is a suppressor of PCNA ubiquitination and oxidative-stress-induced mutagenesis in human cells.
Kashiwaba, S.-I., Kanao, R., Masuda, Y., Kusumoto-Matsuo, R., Hanaoka, F., & Masutani, C. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.11.014 · Cited by 71 · see citing works
Requirement of Watson-Crick Hydrogen Bonding for DNA Synthesis by Yeast DNA Polymerase η
Washington, M. T., Helquist, S. A., Kool, E. T., Prakash, L., & Prakash, S. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.14.5107-5112.2003 · Cited by 75 · see citing works
Self-citationTranslesion DNA Polymerases and Cancer
Makridakis, N. M., & Reichardt, J. K. V. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00174 · Cited by 70 · see citing works
Sabbioneda, S., Bortolomai, I., Giannattasio, M., Plevani, P., & Muzi-Falconi, M. (2007) · DNA Repair · doi:10.1016/j.dnarep.2006.09.002 · Cited by 65 · see citing works
Yuasa, M., Masutani, C., Eki, T., & Hanaoka, F. (2000) · Oncogene · doi:10.1038/sj.onc.1203842 · Cited by 61 · see citing works
Xeroderma pigmentosum variant and error-prone DNA polymerases
Kannouche, P. (2003) · Biochimie · doi:10.1016/j.biochi.2003.10.009 · Cited by 60 · see citing works
Ziv, O., Zeisel, A., Mirlas-Neisberg, N., Swain, U., Nevo, R., Ben-Chetrit, N., Martelli, M. P., Rossi, R., Schiesser, S., Canman, C. E., et al. (2014) · Nature Communications · doi:10.1038/ncomms6437 · Cited by 59 · see citing works
Jung, Y.-S., Qian, Y., & Chen, X. (2012) · DNA Repair · doi:10.1016/j.dnarep.2011.10.017 · Cited by 57 · see citing works
Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair
Niida, H., Matsunuma, R., Horiguchi, R., Uchida, C., Nakazawa, Y., Motegi, A., Nishimoto, K., Sakai, S., Ohhata, T., Kitagawa, K., et al. (2017) · Nature Communications · doi:10.1038/ncomms16102 · Cited by 44 · see citing works
Dunn, J., Potter, M., Rees, A., & Rünger, T. M. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-0563 · Cited by 42 · see citing works
DNA polymerase <b>η</b> mutational signatures are found in a variety of different types of cancer
Rogozin, I. B., Goncearenco, A., Lada, A. G., De, S., Yurchenko, V., Nudelman, G., Panchenko, A. R., Cooper, D. N., & Pavlov, Y. I. (2018) · Cell Cycle · doi:10.1080/15384101.2017.1404208 · Cited by 39 · see citing works
Auclair, Y., Rouget, R., Belisle, J. M., Costantino, S., & Drobetsky, E. A. (2010) · DNA Repair · doi:10.1016/j.dnarep.2010.03.013 · Cited by 34 · see citing works
Nucleotide excision repair and related human diseases
Bergoglio, V., & Magnaldo, T. (2006) · Genome Dynamics · doi:10.1159/000092499 · Cited by 25 · see citing works
DNA Lesion Bypass Polymerases Open Up
Beard, W. A., & Wilson, S. H. (2001) · Structure · doi:10.1016/s0969-2126(01)00646-3 · Cited by 25 · see citing works
Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair
Cleaver, J. E. (2008) · Advances in Experimental Medicine and Biology · doi:10.1007/978-0-387-09599-8_1 · Cited by 13 · see citing works
Adenovirus mediated transduction of the human DNA polymerase eta cDNA
Lima-Bessa, K. M., Chiganças, V., Stary, A., Kannouche, P., Sarasin, A., Armelini, M. G., de Fátima Jacysyn, J., Amarante-Mendes, G. P., Cordeiro-Stone, M., Cleaver, J. E., et al. (2006) · DNA Repair · doi:10.1016/j.dnarep.2006.05.037 · Cited by 11 · see citing works
- Authors
- Johnson, R. E., Kondratick, C. M., Prakash, S., & Prakash, L.
- Affiliations
- The University of Texas Medical Branch at Galveston (US)
- Corresponding author
- Prakash, Louise
- Venue
- Science
- Published
- 1999-07-09
- Volume
- 285
- Issue
- 5425
- Pages
- 263-265
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2065286203
- Cited by
- 732
- References
- 1
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 6 · 2023: 3 · 2022: 12 · 2021: 10 · 2020: 15 · 2019: 16 · 2018: 18 · 2017: 22 · 2016: 16 · 2015: 18 · 2014: 21 · 2013: 20 · 2012: 35
- FWCI
- 21.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01gm019261-30)
- National Institute of General Medical Sciences (GM-19261)
- 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.
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- xeroderma pigmentosum variant, DNA polymerase, nonsense mutation, frameshift mutation, UV-induced DNA damage, error-free bypass, skin cancer predisposition, UV mutagenesis, truncated protein
- MeSH terms
- DNA Polymerase iota, Y-Family DNA Polymerases, Alleles, Amino Acid Sequence, Cell Line, DNA Damage, DNA-Directed DNA Polymerase, DNA Repair, DNA Replication, Humans, Molecular Sequence Data, Mutation, Neoplasms, Radiation-Induced, Pyrimidine Dimers, Saccharomyces cerevisiae, Skin Neoplasms, Protein Biosynthesis, Ultraviolet Rays, Xeroderma Pigmentosum, Frameshift Mutation, Sequence Alignment, Sequence Deletion, DNA, Complementary
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