WRN mutations in Werner syndrome

Human Mutation

Volumn 13, Issue 4, 1999, Pages 271-279

  Moser, Michael J ^a   Oshima, Junko ^a   Monnat Jr , Raymond J ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE; NUCLEASE;

ANIMAL MODEL; DNA POLYMORPHISM; GENE LOCUS; HUMAN; MOUSE; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN STRUCTURE; REVIEW; WERNER SYNDROME;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 8; DISEASE MODELS, ANIMAL; DNA HELICASES; DNA MUTATIONAL ANALYSIS; HUMANS; MICE; MODELS, GENETIC; MUTATION; NUCLEAR LOCALIZATION SIGNALS; POLYMORPHISM, GENETIC; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECQ HELICASES; WERNER SYNDROME;

ANIMALIA;

EID: 0033028692     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:4<271::AID-HUMU2>3.0.CO;2-Q     Document Type: Review

References (86)

1. Antonarakis SE and Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Bennett RJ, Sharp JA, Wang JC. 1998. Purification and characterization of the Sgs 1 DNA helicase activity of Saccharomyces cerevisiae. J Biol Chem 273:9644-9650.
3. Bennett SE, Umar A, Oshima J, Monnat RJ Jr, Kunkel TA. 1997. Mismatch repair in extracts of Werner syndrome cell lines. Cancer Res 57:2956-2960.
4. Brooks-Wilson AR, Emond MJ, Monnat RJ Jr. 1997. Unexpectedly low loss of heterozygosity in genetically unstable Werner syndrome cell lines. Genes Chromosom Cancer 18:133-142.
5. Castro E, Ogburn CE, Hunt KE, Tilvis R, Louhija J, Penttinen R, Panduro A, Riestra R, Piussan C, Deeb SS, Wang L, Edland SD, Martin GM, Oshima J. 1999. Polymorphisms at the Werner locus: I. newly identified polymorphisms, ethic variability of 1367Cys/Arg and its stability in a population study of Finnish centenarians. Am J Med Genet 82 (in press).
6. Davey S, Han CS, Ramer SA, Klassen JC, Jacobson A, Eisenberger A, Hopkins KM, Lieberman HB, Freyer GA. 1998. Fission yeast rad12+ regulates cell cycle checkpoint control and is homologous to the Bloom's syndrome disease gene. Mol Cell Biol 18:2721-2728.
7. Ellis NA. 1997. DNA helicases in inherited human disorders. Curr Opin Genet Dev 7:354-363.
8. Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. 1995. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666.
9. Epstein CJ, Martin GM, Schultz AL, Motulsky AG. 1966. Werner's syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) 45:177-221.
10. Friedberg EC. 1996. Relationships between DNA repair and transcription. Annu Rev Biochem 65:15-42.
11. Friedberg EC, Walker GC, Siede W 1995. DNA Repair and mutagenesis. Washington, DC: ASM Press. 698 p.
12. Friedberg EC, Meira LB, Cheo DL. 1998. Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. Version 2. Mutat Res 407:217-226.
13. Fry M, Loeb LA. 1998. The three faces of the WS helicase. Nature Genet 19:308-309.
14. Fukuchi K, Martin GM, Monnat RJ Jr. 1989. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc Natl Acad Sci USA 86:5893-5897.
15. Fukuchi K, Tanaka K, Kumahara Y, Marumo K, Pride MB, Martin GM, Monnat RJ Jr. 1990. Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. Hum Genet 84:249-252.
16. Gangloff S, McDonald JP, Bendixen C, Arthur L, Rothstein R. 1994. The yeast Type 1 topoisomerase Top3 interacts with Sgs1: a DNA helicase homolog: a potential eukaryotic reverse gyrase. Mol Cell Biol 14:8391-8398.
17. Gebhart E, Bauer R, Raub U, Schinzel M, Ruprecht KW, Jonas JB. 1988. Spontaneous and induced chromosomal instability in Werner syndrome. Hum Genet 80:135-139.
18. Goto M. 1997. Hierarchical deterioration of body systems in Werner's syndrome: implications for normal ageing. Mech Aging Dev 98:239-254.
19. Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, Tokutake Y, Suzuki N, Mason B, Drayna D, Sugawara M, Sugimoto M, Furuichi Y. 1996a. Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Hum Genet. 99:191-193.
20. Goto M, Miller RW, Ishikawa Y, Sugano H. 1996b. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev 5:239-246.
21. Goto M, Rubenstein M, Weber J, Woods K, Drayna D. 1992. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature 355:735-738.
22. Gray MD, Shen J-C, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA. 1997. The Werner syndrome protein is a DNA helicase. Nature Genet 17:100-103.
23. Gray MD, Wang L, Youssoufian H, Martin GM, Oshima J. 1998. Werner helicase is localized to transcriptionally active nucleoli of cycling cells. Exp Cell Res 242:487-494.
24. Kanada K, Ukita T, Kohno Y, Saito K, Kato J-I, Ikeda H. 1997. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli. Proc Natl Acad Sci USA 94:3860-3865.
25. Harmon FG, Kowalczykowski SC. 1998. RecQ helicase, in concert with RecA and ssb proteins, initiates and disrupts DNA recombination. Genes Dev 12:1134-1144.
26. Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM. 1975. Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 15:282-298.
27. Hoeijmakers JHJ, Egly J-M, Vermeulen W. 1996. TFIIH: a key component in multiple DNA transactions. Curr Opin Genet Dev 6:26-33.
28. Huang S, Li B, Gray MD, Oshima J, Mian IS, Campisi J. 1998. The premature aging syndrome protein, WRN, is a 3′ to 5′ exonuclease. Nature Genet 20:114-116.
29. Imamura O, Ichikawa K, Yamabe Y, Goto M, Sugawara M, Furuichi Y. 1997. Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. Genomics 41:298-300.
30. Kamath-Loeb AS, Shen J-C, Loeb LA, Fry M. 1998. Werner syndrome protein II: characterization of the integral 3′→5′ DNA exonuclease. J Biol Chem 273:34145-34150.
31. Karow JK, Chakraverty RK, Hickson ID. 1997. The Bloom's syndrome gene product is a 3′-5′ DNA helicase. J Biol Chem 272:30611-30614.
32. Kruk PA, Rampino NJ, Bohr VA. 1995. DNA damage and repair in telomeres: relation to aging. Proc Natl Acad Sci USA 92:258-262.
33. Kyoizumi S, Kusunoki Y, Seyama T, Hatamochi A, Goto M. 1998. In vivo somatic mutations in Werner's syndrome. Hum Genet 103:405-410.
34. Lebel M, Leder P. 1998. A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity. Proc Natl Acad Sci USA 95:13097-13102.
35. Lehmann AR. 1998. Dual functions of DNA repair genes: molecular, cellular, and clinical implications. BioEssays 20:146-155.
36. Lu J, Mullen JR, Brill SJ, Kleff S, Romeo AM, Sternglanz R. 1996. Human homologues of yeast helicase. Nature 383:678-679.
37. Marciniak RA, Lombard DB, Johnson FB, Guarente L. 1998. Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci USA 95:6887-6892.
38. Martin GM. 1978. Genetic syndromes in man with potential relevance to the pathobiology of aging. Birth Defects 14:5-39.
39. Martin GM. 1997. The Werner mutation: does it lead to a "public" or "private" mechanism of aging? Mol Med 3:356-358.
40. Martin GM, Sprague CA, Epstein CJ. 1970. Replicative lifespan of cultivated human cells. Effects of donor's age, tissue, and genotype. Lab Invest 23:86-92.
41. Matson SW, Bean DW, George JW 1994. DNA helicases: enzymes with essential roles in all aspects of DNA metabolism. BioEssays 16:13-22.
42. Matsumoto T, Shimamoto A, Goto M, Furuichi Y. 1997a. Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nature Genet 16:335-336.
43. Matsumoto T, Imamura O, Yamabe Y, Kuromitsu J, Tokutake Y, Shimamoto A, Suzuki N, Satoh M, Kitao S, Ichikawa K, Kataoka H, Sugawara K, Thomas W, Mason B, Tsuchihashi Z, Drayna D, Sugawara M, Sugimoto M, Furuichi Y, Goto M. 1997b. Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum Genet 100:123-130.
44. Matsumoto T, Imamura O, Goto M, Furuichi Y. 1998. Characterization of the nuclear localization signal in the DNA helicase involved in Werner's syndrome. Int J Mol Med 1:71-76.
45. Meisslitzer C, Ruppitsch W, Weirich-Schwaiger H, Weirich HG, Jabkowsky J, Klein G, Schweiger M, Hirsch-Kauffmann M. 1997. Werner syndrome: characterization of mutations in the WRN gene in an affected family. Eur J Hum Genet 5:364-370.
46. Melaragno MI, Pagni D, Smith MdC. 1995. Cytogenetic aspects of Werner's syndrome lymphocyte cultures. Mech Aging Dev 78:117-122.
47. Monnat RJ Jr. 1992. Werner syndrome: molecular genetics and mechanistic hypotheses. Exp Gerontol 27:447-453.
48. Morozov V, Mushegian AR, Koonin EV, Bork P. 1997. A putative nucleic acid-binding domain in the Bloom's and Werner's syndrome helicases. Trends Biochem Sci 22:417-418.
49. Moser MJ, Holley WR, Chatterjee A, Mian IS. 1997. The proofreading domain of Escherichia coli DNA polymerase I and other DNA and/or RNA exonuclease domains. Nucleic Acids Res 25:5110-5118.
50. Murray JM, Lindsay HD, Munday CA, Carr AM. 1997. Role of the Schizosaccharomyces pombe RecQ homologue, recombination, and checkpoint genes in UV damage tolerance. Mol Cell Biol 17:6868-6875.
51. Mushegian AR, Bassett DE Jr, Boguski MS, Bork P, Koonin EV. 1997. Positionally cloned human disease genes: patterns of evolutionarily conservation and functional motifs. Proc Natl Acad Sci USA 94:5831-5836.
52. Nakayama H, Nakayama K, Nakayama R, Irino N, Nakayama Y, Hanawalt PC. 1984. Isolation and genetic characterization of a thymineless death-resistant mutant of Escherichia coli K12: identification of a new mutation (recQ1) that blocks the RecF recombination pathway. Mol Gen Genet 195:474-480.
53. Ogburn CE, Oshima J, Poot M, Chen R, Hunt KE, Gollahon KA, Rabinovitch PS, Martin GM. 1997. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Hum Genet 101:121-125.
54. Okada M, Goto M, Furuichi Y, Sugimoto M. 1998. Differential effects of cytotoxic drugs on mortal and immortalized B-lymphoblastoid cell lines from normal and Werner's syndrome patients. Biol Pharm Bull 21:235-239.
55. Oshima J, Brown WT, Martin GM. 1996a. No detectable mutations at Werner helicase locus in progeria. Lancet 348:1106-1106.
56. Oshima J, Yu C-E, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J, Ogihara T, Ells J, Smith MdC, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J, Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM. 1996b. Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet 5:1909-1913.
57. Poot M, Hoehn H, Rünger TM, Martin GM. 1992. Impaired S-phase transit of Werner syndrome cells expressed in lymphoblastoid cell lines. Exp Cell Res 202:267-273.
58. Poot M, Gollahon KA, Rabinovitch PS. 1999. Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase. Human Genetics 104 (in press).
59. Puranam KL, Blackshear PJ. 1994. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J Biol Chem 269: 29838-29845.
60. Rünger TM, Bauer C, Dekant B, Möller K, Sobotta P, Czerny C, Poot M, Martin GM. 1994. Hypermutable ligation of plasmid DNA ends in cells from patients with Werner syndrome. J Invest Dermatol 102:45-48.
61. Salk D, Au K, Hoehn H, Martin GM. 1985a. Cytogenetic aspects of Werner syndrome. Adv Exp Med Biol 190:541-546.
62. Salk D, Fujiwara Y, Martin GM. 1985b. Werner's syndrome and human aging. New York: Plenum. 656 p.
63. Schellenberg GD, Martin GM, Wijsman EM, Nakura J, Miki T, Ogihara T. 1992. Homozygosity mapping and Werner's syndrome. Lancet 339:1002-1002.
64. Schultz VP, Zakian VA, Ogburn CE, McKay J, Jarzebowicz AA, Edland SD, Martin GM. 1996. Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells. Hum Genet 97:750-754.
65. Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S-i, Ozawa K, Eki T, Nogami M, Okumura K, Taguchi H, Hanaoka F, Enomoto T. 1994. Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli RecQ helicase and localization of the gene at chromosome 12p12. Nucleic Acids Res 22:4566-4573.
66. Shen J-C, Gray MD, Oshima J, Loeb LA. 1998a. Characterization of Werner syndrome protein DNA helicase activity: directionality, substrate dependence, and stimulation by replication protein A. Nucleic Acids Res 265:2879-2885.
67. Shen J-C, Gray MD, Oshima J, Kamath-Loeb AS, Fry M, Loeb LA. 1998b. Werner syndrome protein I: DNA helicase and DNA exonuclease reside on the same polypeptide. J Biol Chem 273:34139-34144.
68. Sinclair DA, Mills K, Quarante L. 1997. Accelerated aging and nucleolar fragmentation in yeast sgs1 mutants. Science 277:1313-1316.
69. + , a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S-phase arrest. EMBO J 16:2682-2692.
70. Suzuki N, Shimamoto A, Imamura O, Kuromitsu J, Kitao S, Goto M, Furuichi Y. 1997. DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system. Nucleic Acids Res 25:2973-2978.
71. Tahara H, Tokutake Y, Maeda S, Kataoka H, Watanabe T, Satoh M, Matsumoto T, Sugawara M, Ide T, Goto M, Furuichi Y, Sugimoto M. 1997. Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus. Oncogene 15: 1911-1920.
72. Tollefsbol TO, Cohen HJ. 1984. Werner's syndrome: an underdiagnosed disorder resembling premature aging. Age 7:75-88.
73. Umezu K, Nakayama K, Nakayama H. 1990. Escherichia coli RecQ protein is a DNA helicase. Proc Natl Acad Sci .USA 87:5363-5367.
74. Vidai V, Bay J-O, Champomier F, Grancho M, Beauville L, Glowaczower C, Lemery D, Ferrera M, Bignon Y-J. 1997. The 1396delA mutation and a missense mutation or rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of unusual vulvar cancer. Hum Mutat 11:413-414.
75. Wang L, Hunt KE, Martin GM, Oshima J. 1998. Structure and function of the human Werner syndrome gene promoter: evidence for transcriptional modulation. Nucleic Acids Res 26:3480-3485.
76. Watt PM, Hickson ID, Borts RH, Louis EJ. 1996. SGS1: a homologue of the Bloom's and Werner's syndrome genes, is required for maintenance of genome stability in Saccharomyces cerevisiae. Genetics 144:935-944.
77. Watt PM, Louis EJ, Borts RH, Hickson ID. 1995. Sgs1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation. Cell 81:253-260.
78. Webb DK, Evans MK, Bohr VA. 1996. DNA repair fine structure in Werner's syndrome cell lines. Exp Cell Res 224:272-278.
79. Weirich-Schwaiger H, Weirich HG, Gruber B, Schweiger M, Hirsch-Kauffmann M. 1994. Correlation between senescence and DNA repair in cells from young and old individuals and in premature aging syndromes. Mutat Res 316:37-48.
80. Yamabe Y, Sugimoto M, Satoh M, Suzuki N, Sugawara K, Goto M, Furuichi Y. 1997. Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem Biophys Res Commun 236:151-154.
81. Yamabe Y, Sugimoto M, Goto M, Yokota J, Sugawara K, Furuichi Y. 1998. Sp1-mediated transcription of the Werner helicase gene is modulated by Rb and p53. Mol Cell Biol 18:6191-6200.
82. Yamagata K, Kato J, Shimamoto A, Goto M, Furuichi Y, Ikeda H. 1998. Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication tor genomic instability in human diseases. Proc Natl Acad Sci USA 95:8733-8738.
83. Yan H, Chen C-Y, Kobayashi R, Newport J. 1998. Replication focus-forming activity 1 and the Werner syndrome gene product. Nature Genet 19:375-378.
84. Ye L, Miki T, Nakura J, Oshima J, Kamino K, Rakugi H, Ikegami H, Higaki J, Edland SD, Martin GM, Ogihara T. 1997. Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. Am J Hum Genet 68:494-498.
85. Yu C-E, Oshima J, Fu Y-H, Wijsman EM, Hisama F, Ouais S, Nakura J, Miki T, Martin GM, Mulligan J, Schellenberg GD. 1996. Positional cloning of the Werner's syndrome gene. Science 272:258-262.
86. Yu C-E, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu Y-H, Mulligan J, Martin GM, Schellenberg GD, Werner's Syndrome Collaborative Group. 1997. Mutations in the consensus helicase domains of the Werner syndrome gene. Am J Hum Genet 60:330-341.