Xeroderma pigmentosum-variant patients from America, Europe, and Asia

Journal of Investigative Dermatology

Volumn 128, Issue 8, 2008, Pages 2055-2068

  Inui, Hiroki ^a   Oh, Kyu Seon ^a   Nadem, Carine ^a   Ueda, Takahiro ^a   Khan, Sikandar G ^a   Metin, Ahmet ^b   Gozukara, Engin ^c   Emmert, Steffen ^d   Slor, Hanoch ^e   Busch, David B ^f   Baker, Carl C ^g   Digiovanna, John J ^a,h   Tamura, Deborah ^a   Seitz, Cornelia S ⁱ   Gratchev, Alexei ^j   Wu, Wen Hao ^k   Chung, Kee Yang ^k   Chung, Hye Jin ^k   Azizi, Esther ^e   Woodgate, Roger ^l   Schneider, Thomas D ^m   Kraemer, Kenneth H ^a   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b Ankara Ataturk Research and Training Hospital   (Turkey)

^c YEDITEPE UNIVERSITY   (Turkey)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

^e TEL AVIV UNIVERSITY   (Israel)

^f ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^g NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^h BROWN UNIVERSITY   (United States)

ⁱ UNIVERSITY OF WÜRZBURG   (Germany)

^j UNIVERSITY OF HEIDELBERG   (Germany)

^k Yonsei University College of Medicine   (South Korea)

^l EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^m NATIONAL CANCER INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE ETA; MESSENGER RNA;

ADOLESCENT; ADULT; AGED; ARTICLE; ASIA; CELL STRAIN; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EUROPE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GERMANY; HUMAN; HUMAN CELL; ISRAEL; KOREA; MALE; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIBLING; SKIN FIBROBLAST; TURKEY (REPUBLIC); WESTERN HEMISPHERE; XERODERMA PIGMENTOSUM;

EID: 47349099501     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.48     Document Type: Article

References (77)

1. Arlett CF, Harcourt SA, Broughton BC (1975) The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiation. Mutat Res 33:341-6
2. Bienko M, Green CM, Crosetto N, Rudolf F, Zapart G, Coull B et al. (2005) Ubiquitin-binding domains in Y-family polymerases regulate translesion synthesis. Science 310:1821-4
3. Bomar MG, Pai MT, Tzeng SR, Li SS, Zhou P (2007) Structure of the ubiquitin-binding zinc finger domain of human DNA Y-polymerase eta. EMBO Rep 8:247-51
4. Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ (2002) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: The Genetic Basis of Human Cancer (Vogelstein B, Kinzler KW, eds), 2nd ed. New York: McGraw-Hill, 211-37
5. Boudsocq F, Ling H, Yang W, Woodgate R (2002) Structure-based interpretation of missense mutations in Y-family DNA polymerases and their implications for polymerase function and lesion bypass. DNA Repair (Amst) 1:343-58
6. Broughton BC, Cordonnier A, Kleijer WJ, Jaspers NG, Fawcett H, Raams A et al. (2002) Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA 99:815-20
7. Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR et al. (2000) Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res 60:1974-82
8. Cleaver JE (1972) Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light. J Invest Dermatol 58:124-8
9. Cordonnier AM, Lehmann AR, Fuchs RP (1999) Impaired translesion synthesis in xeroderma pigmentosum variant extracts. Mol Cell Biol 19:2206-11
10. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12
11. Dubaele S, Proietti De Santis L, Bienstock RJ, Keriel A, Stefanini M, Van Houten B et al. (2003) Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. Mol Cell 11:1635-46
12. Dumstorf CA, Clark AB, Lin Q, Kissling GE, Yuan T, Kucherlapati R et al. (2006) Participation of mouse DNA polymerase iota in strand-biased mutagenic bypass of UV photoproducts and suppression of skin cancer. Proc Natl Acad Sci USA 103:18083-8
13. Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D et al. (2002) Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J Invest Dermatol 118:972-82
14. Frank EG, Woodgate R (2007) Increased catalytic activity and altered fidelity of human DNA polymerase iota in the presence of manganese. J Biol Chem 282:24689-96
15. Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, Ellenberger T (2006) DNA Repair and Mutagenesis, 2nd ed. Washington, DC: ASM Press
16. Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T et al. (2001) A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol 117:197-204
17. Gratchev A, Strein P, Utikal J, Sergij G (2003) Molecular genetics of xeroderma pigmentosum variant. Exp Dermatol 12:529-36
18. Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM, MacPhee DG et al. (2006) Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res 601:171-8
19. Hofmann H, Jung EG, Schnyder UW (1978) Pigmented xerodermoid: first report of a family. Bull Cancer (Paris) 65:347-50
20. Itoh T, Linn S (2001) XP43TO, previously classified as xeroderma pigmentosum group E, should be reclassified as xeroderma pigmentosum variant. J Invest Dermatol 117:1672-4
21. Itoh T, Linn S, Kamide R, Tokushige H, Katori N, Hosaka Y et al. (2000a) Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. J Invest Dermatol 115:981-5
22. Itoh T, Linn S, Ono T, Yamaizumi M (2000b) Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. J Invest Dermatol 114:1022-9
23. Itoh T, Ono T, Yamaizumi M (1996) A simple method for diagnosing xeroderma pigmentosum variant. J Invest Dermatol 107:349-53
24. Johnson RE, Kondratick CM, Prakash S, Prakash L (1999a) hRAD30 mutations in the variant form of xeroderma pigmentosum. Science 285:263-5
25. Johnson RE, Prakash S, Prakash L (1999b) Efficient bypass of a thyminethymine dimer by yeast DNA polymerase, Poleta. Science 283:1001-4
26. Kannouche P, Broughton BC, Volker M, Hanaoka F, Mullenders LH, Lehmann AR (2001) Domain structure, localization, and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells. Genes Dev 15:158-72
27. Kannouche P, Fernandez De Henestrosa AR, Coull B, Vidal AE, Gray C, Zicha D et al. (2002) Localization of DNA polymerases eta and iota to the replication machinery is tightly coordinated in human cells. EMBO J 21:6246-56
28. Kannouche P, Fernandez De Henestrosa AR, Coull B, Vidal AE, Gray C, Zicha D et al. (2003) Localization of DNA polymerases eta and iota to the replication machinery is tightly coordinated in human cells. EMBO J 22:1223-33
29. Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V et al. (2004) Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet 13:343-52
30. Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M et al. (2000) A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis 21:1821-5
31. Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T et al. (2002) The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res 30:3624-31
32. Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H et al. (2006) Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis 27:84-94
33. Kim J, Chung KY (2003) Removal by Mohs micrographic surgery and reconstruction using combined local flaps. Korean J Dermatol 41:1354-8
34. Kraemer KH (2003) Heritable diseases with increased sensitivity to cellular injury. In: Fitzpatrick's Dermatology in General Medicine (Freedberg IM et al., eds), New York: McGraw-Hill, 1508-21
35. Kraemer KH, Lee M-M, Andrews AD, Lambert WC (1994) The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: the xeroderma pigmentosum paradigm. Arch Dermatol 130:1018-21
36. Kraemer KH, Lee MM, Scotto J (1987) Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241-50
37. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ (2007) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145:1388-96
38. Kuzmiak HA, Maquat LE (2006) Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 12:306-16
39. Laposa RR, Feeney L, Cleaver JE (2003) Recapitulation of the cellular xeroderma pigmentosum-variant phenotypes using short interfering RNA for DNA polymerase H. Cancer Res 63:3909-12
40. Lehmann AR (2003) DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 85:1101-11
41. Lehmann AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PH, De Weerd-Kastelein EA et al. (1975) Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci USA 72:219-23
42. Ling H, Boudsocq F, Plosky BS, Woodgate R, Yang W (2003) Replication of a cis-syn thymine dimer at atomic resolution. Nature 424:1083-7
43. Ling H, Boudsocq F, Woodgate R, Yang W (2001) Crystal structure of a Y-family DNA polymerase in action: a mechanism for error-prone and lesion-bypass replication. Cell 107:91-102
44. Maher VM, Ouellette LM, Curren RD, McCormick JJ (1976a) Caffeine enhancement of the cytotoxic and mutagenic effect of ultraviolet irradiation in a xeroderma pigmentosum variant strain of human cells. Biochem Biophys Res Commun 71:228-34
45. Maher VM, Ouellette LM, Curren RD, McCormick JJ (1976b) Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells. Nature 261:593-5
46. Masutani C, Araki M, Yamada A, Kusumoto R, Nogimori T, Maekawa T et al. (1999a) Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. EMBO J 18:3491-501
47. Masutani C, Kusumoto R, Iwai S, Hanaoka F (2000) Mechanisms of accurate translesion synthesis by human DNA polymerase eta. EMBO J 19:3100-9
48. Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M et al. (1999b) The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature 399:700-4
49. McDonald JP, Levine AS, Woodgate R (1997) The Saccharomyces cerevisiae RAD30 gene, a homologue of Escherichia coli dinB and umuC, is DNA damage inducible and functions in a novel error-free postreplication repair mechanism. Genetics 147:1557-68
50. Moriwaki S, Kraemer KH (2001) Xeroderma pigmentosum - bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 17:47-54
51. Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH (1981) A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro 17:299-307
52. Ohmori H, Friedberg EC, Fuchs RP, Goodman MF, Hanaoka F, Hinkle D et al. (2001) The Y-family of DNA polymerases. Mol Cell 8:7-8
53. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH (2000) Cockayne syndrome and xeroderma pigmentosum. Neurology 55:1442-9
54. Robbins JH, Kraemer KH, Flaxman BA (1975) DNA repair in tumor cells from the variant form of xeroderma pigmentosum. J Invest Dermatol 64:150-5
55. Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG (1974) Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 80:221-48
56. Rogan PK, Faux BM, Schneider TD (1998) Information analysis of human splice site mutations. Hum Mutat 12:153-71
57. Schneider TD (1997a) Information content of individual genetic sequences. J Theor Biol 189:427-41
58. Schneider TD (1997b) Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. Nucleic Acids Res 25:4408-15
59. Skoneczna A, McIntyre J, Skoneczny M, Policinska Z, Sledziewska-Gojska E (2007) Polymerase eta is a short-lived, proteasomally degraded protein that is temporarily stabilized following UV irradiation in Saccharomyces cerevisiae. J Mol Biol 366:1074-86
60. Svoboda DL, Briley LP, Vos JM (1998) Defective bypass replication of a leading strand cyclobutane thymine dimer in xeroderma pigmentosum variant cell extracts. Cancer Res 58:2445-8
61. Tanioka M, Masaki T, Ono R, Nagano T, Otoshi-Honda E, Matsumura Y et al. (2007) Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. J Invest Dermatol 127:1745-51
62. Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG et al. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA 94:8658-63
63. Thakur M, Wernick M, Collins C, Limoli CL, Crowley E, Cleaver JE (2001) DNA polymerase eta undergoes alternative splicing, protects against UV sensitivity and apoptosis, and suppresses Mre11-dependent recombination. Genes Chromosomes Cancer 32:222-35
64. Vaisman A, Frank EG, Iwai S, Ohashi E, Ohmori H, Hanaoka F et al. (2003) Sequence context-dependent replication of DNA templates containing UV-induced lesions by human DNA polymerase iota. DNA Repair (Amst) 2:991-1006
65. Van Steeg H, Kraemer KH (1999) Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer. Mol Med Today 5:86-94
66. Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI et al. (2000) Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet 66:356-67
67. Wang Y, Woodgate R, McManus TP, Mead S, McCormick JJ, Maher VM (2007) Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations. Cancer Res 67:3018-26
68. Wang YC, Maher VM, Mitchell DL, McCormick JJ (1993) Evidence from mutation spectra that the UV hypermutability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoproducts. Mol Cell Biol 13:4276-83
69. Waters HL, Seetharam S, Seidman MM, Kraemer KH (1993) Ultraviolet hypermutability of a shuttle vector propagated in xeroderma pigmentosum variant cells. J Invest Dermatol 101:744-8
70. Woodgate R (1999) A plethora of lesion-replicating DNA polymerases. Genes Dev 13:2191-5
71. Woodgate R, Singh M, Kulaeva OI, Frank EG, Levine AS, Koch WH (1994) Isolation and characterization of novel plasmid-encoded umuC mutants. J Bacteriol 176:5011-21
72. Yamada A, Masutani C, Iwai S, Hanaoka F (2000) Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta (In Process Citation). Nucleic Acids Res 28:2473-80
73. Yang W, Woodgate R (2007) What a difference a decade makes: insights into translesion DNA synthesis. Proc Natl Acad Sci USA 104:15591-8
74. Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D et al. (2007) In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. Mol Cell Biol 27:6606-14
75. Yavuz S, Yavuz AS, Kraemer KH, Lipsky PE (2002) The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant. J Immunol 169:3825-30
76. Yuasa M, Masutani C, Eki T, Hanaoka F (2000) Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. Oncogene 19:4721-8
77. Zeng X, Winter DB, Kasmer C, Kraemer KH, Lehmann AR, Gearhart PJ (2001) DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. Nat Immunol 2:537-41