DNA helicases, genomic instability, and human genetic disease

Annual Review of Genomics and Human Genetics

Volumn 1, Issue 2000, 2000, Pages 409-459

  Van Brabant, Anja J ^a   Stan, Rodica ^a   Ellis, Nathan A ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Bloom syndrome; DNA repair and recombination; DNA replication; RecQ helicases; Werner syndrome; Xeroderma pigmentosum

Indexed keywords

HELICASE; SACCHAROMYCES CEREVISIAE PROTEIN; TAF6 PROTEIN, S CEREVISIAE; TATA BINDING PROTEIN ASSOCIATED FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR II; TRANSCRIPTION FACTOR IID; TRANSCRIPTION FACTOR IIH;

AMINO ACID SEQUENCE; ANIMAL; BLOOM SYNDROME; CHEMICAL STRUCTURE; CHEMISTRY; DNA REPAIR; DNA REPLICATION; ENZYMOLOGY; GENETIC DISORDER; GENETIC RECOMBINATION; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; PHENOTYPE; REVIEW; ROTHMUND THOMSON SYNDROME; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY; WERNER SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BLOOM SYNDROME; DNA HELICASES; DNA REPAIR; DNA REPLICATION; GENETIC DISEASES, INBORN; HUMANS; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RECOMBINATION, GENETIC; ROTHMUND-THOMSON SYNDROME; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION FACTOR TFIID; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; WERNER SYNDROME;

EID: 0034578446     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.1.1.409     Document Type: Article

References (221)

1. Aboussekhra A, Biggerstaff M, Shivji MKK, Vilp JA, Moncollin V, et al. 1995. Mammalian DNA nucleotide excision repair reconstituted with purified protein components. Cell 80:859-68
2. 1-ATPase from bovine heart mitochondria. Nature 370:621-28
3. Allison TJ, Wood TC, Briercheck DM, Rastinejad F, Richardson JP, et al. 1998. Crystal structure of the RNA-binding domain from transcription termination factor rho. Nat. Struct. Biol. 5:352-56
4. Araujo SJ, Wood RD. 1999. Protein complexes in nucleotide excision repair. Mutat.Res. 435:23-33
5. Bahr A, De Graeve F, Kedinger C, Chatton B. 1998. Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activity of the BLM protein. Oncogene 17:2565-71
6. Balajee AS, Machwe A, May A, Gray MD, Oshima J, et al. 1999. The Werner syndrome protein is involved in RNA polymerase II transcription. Mol. Biol. Cell 10:2655-68
7. Bennett RJ, Sharp JA, Wang JC. 1998. Purification and characterization of the Sgs1 DNA helicase activity of Saccharomyces cerevisiae. J. Biol. Chem. 273: 9644-50
8. Bennett SE, Umar A, Oshima J, Monnat RJ Jr, Kunkel TA. 1997. Mismatch repair in extracts of Werner syndrome cell lines. Cancer Res. 57:2956-60
9. Benz J, Trachsel H, Baumann U. 1999. Crystal structure of the ATPase domain of translation initiation factor 4A from Saccharomyces cerevisiae - the prototype of the DEAD box protein family. Struct. Fold. Des. 7:671-79
10. Beresten SF, Stan R, van Brabant AJ, Ye T, Naureckiene S, Ellis NA. 1999. Purification of overexpressed hexahistidine-tagged BLM N431 as oligomeric complexes Protein Expr. Purif. 17:239-48
11. Bessho T, Sancar A, Thompson LH, Thelen MP. 1997. Reconstitution of human excision nuclease with recombinant XPF-ERCCl complex. J. Biol. Chem. 272: 3833-37
12. Blander G, Kipnis J, Leal JF, Yu CE, Schellenberg GD, Oren M. 1999. Physical and functional interaction between p53 and the Werner's syndrome protein. J. Biol. Chem. 274:29463-69
13. Boddy MN, Howe K, Etkin LD, Solomon E, Freemont PS. 1996. PIC 1, a novel ubiquitin-like protein which interacts with the PML component of amultiprotein complex that is disrupted in acute promyelocytic leukaemia. Oncogene 13:971-82
14. Brosh RM Jr, Orren DK, Nehlin JO, Ravn PH, Kenny MK, et al. 1999. Functional and physical interaction between WRN helicase and human replication protein A. J. Biol. Chem. 274:18341-50
15. Chakraverty RK, Hickson ID. 1999. Defending genome integrity during DNA replication: a proposed role for RecQ family helicases. BioEssays 21:286-94
16. Chester N, Kuo F, Kozak C, O'Hara CD, Leder P. 1998. Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev. 12:3382-93
17. Cho HS, Ha NC, Kang LW, Chung KM, Back SH, et al. 1998. Crystal structure of RNA helicase from genotype 1b hepatitis C virus: a feasible mechanism of unwinding duplex RNA. J. Biol. Chem. 273: 15045-52
18. Chu G, Chang E. 1988. Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA. Science 242:564-67
19. Cleaver JE, Thompson LH, Richardson AS, States JC. 1999. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum. Mutat, 14:9-22
20. Coin F, Bergmann E, Tremeau-Bravard A, Egly JM. 1999. Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. EMBO J. 18:1357-66
21. Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM. 1998. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat. Genet. 20:184-87
22. Cooper PK, Nouspikel T, Clarkson SG, Leadon SA. 1997. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275:990-93
23. Courcelle J, Carswell-Crumpton C, Hanawalt PC. 1997. recF and recR are required for the resumption of replication at DNA replication forks in Escherichia coli. Proc. Natl. Acad. Sci. USA 94:3714-19
24. Courcelle J, Crowley DJ, Hanawalt PC. 1999. Recovery of DNA replication in UV-irradiated Escherichia coli requires both excision repair and recF protein function. J. Bacteriol, 181:916-22
25. Courcelle J, Hanawalt PC. 1999. RecQ and RecJ process blocked replication forks prior to the resumption of replication in UV-irradiated Escherichia coli. Mol. Gen. Genet. 262:543-51
26. Davey S, Han CS, Ramer SA, Klassen JC, Jacobson A, et al. 1998. Fission yeast rad12+ regulates cell cycle checkpoint control and is homologous to the Bloom's syndrome disease gene. Mol. Cell. Biol. 18:2721-28
27. de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H. 1998. A mouse model for the basal transcription/DNA repair syndrome triochothiodystrophy. Mol. Cell 1:981-90
28. de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G. 1998. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 58:89-94
29. de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, et al. 1999. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res. 59:3489-94
30. de Laat WL, Appeldoorn E, Sugasawa K, Weterings E, Jaspers NG, Hoeijmakers JH. 1998. DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair. Genes Dev. 12:2598-609
31. de Laat WL, Jaspers NG, Hoeijmakers JH. 1999. Molecular mechanism of nucleotide excision repair. Genes Dev. 13:768-85
32. de la Cruz J, Kressler D, Linder P. 1999. Unwinding RNA in Saccharomyces cerevisiae: DEAD-box proteins and related families. Trends Biochem. Sci. 24:192-98
33. Der Kaloustian VM, McGill JJ, Vekemans M, Kopelman HR. 1990. Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. Am. J. Med. Genet. 37:336-39
34. Desterro JM, Rodriguez MS, Hay RT. 1998. SUMO-1 modification of IkappaBalpha inhibits NF-kappaB activation. Mol. Cell 2:233-39
35. de Vries A, van Oostrom CTM, Hofhuis FMA, Dortant PM, Berg RJW, et al. 1995. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 377: 169-73
36. Drapkin R, Le Roy G, Cho H, Akoulitchev S, Reinberg D. 1996. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. Proc. Natl. Acad. Sci. USA 93:6488-93
37. Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, et al. 1994. Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II. Nature 368:769-72
38. Eisen A, Lucchesi JC. 1998. Unraveling the role of helicases in transcription. BioEssays 20:634-41
39. Eisen JA, Hanawalt PC. 1999. A phylogenomic study of DNA repair genes, proteins, and processes. Mutat. Res. 435:171-213
40. Eisen JA, Sweder KS, Hanawalt PC. 1995. Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions. Nucleic Acids Res. 23:2715-23
41. Ash is present in non-Jewish Americans of Spanish ancestry. Am. J. Hum. Genet. 63:1685-93
42. Ellis NA, German J. 1996. Molecular genetics of Bloom's syndrome. Hum. Mol. Genet. 5:1457-63
43. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, et al. 1995. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-66
44. Ellis NA, Proytcheva M, Sanz MM, Ye TZ, German J. 1999. Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. Am. J. Hum. Genet. 65:1368-74
45. 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 45:177-221
46. Evans E, Moggs JG, Hwang JR, Egly JM, Wood RD. 1997. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J. 16:6559-73
47. Fass D, Bogden CE, Berger JM. 1999. Crystal structure of the N-terminal domain of the DnaB hexameric helicase. Struct. Fold. Des. 7:691-98
48. Feaver WJ, Henry NL, Wang Z, Wu X, Svejstrup JQ, et al. 1997. Genes for Tfb2, Tfb3, and Tfb4 subunits of yeast transcription/repair factor IIH: homology to human cyclin-dependent kinase activating kinase and IIH subunits. J. Biol. Chem. 272:19319-27
49. Feaver WJ, Huang W, Friedberg EC. 1999. The TFB4 subunit of yeast TFIIH is required for both nucleotide excision repair and RNA polymerase II transcription. J. Biol. Chem. 274:29564-67
50. Feaver WJ, Svejstrup JQ, Bardwell L, Bardwell AJ, Buratowski S, et al. 1993. Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair. Cell 75:1379-87
51. Flores O, Lu H, Reinberg D. 1992. Factors involved in specific transcription by mammalian RNA polymerase II. Identification and characterization of factor IIH. J. Biol. Chem. 267:2786-93
52. Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, et al. 1997. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. Hum. Mol. Genet. 6:1427-34
53. Friedberg EC, Meira LB, Cheo DL. 1998. Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. Mutat. Res. 407:217-26
54. Fry M, Loeb LA. 1998. The three faces of the WS helicase. Nat. Genet. 19:308-9
55. n. J. Biol. Chem. 274:12797-802
56. Fujiwara Y, Higashikawa T, Tatsumi M. 1977. A retarded rate of DNA replication and normal level of DNA repair in Wemer's syndrome fibroblasts in culture. J. Cell Physiol. 92:365-74
57. Fukuchi K, Martin GM, Monnat RJ Jr. 1989. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. USA 86:5893-97
58. Fukuchi K, Tanaka K, Kumahara Y, Marumo K, Pride MB, et al. 1990. Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. Hum. Genet. 84:249-52
59. Gangloff S, McDonald JP, Bendixen C, Arthur L, Rothstein R. 1994. The yeast type I topoisomerase Top3 interacts with Sgs 1, a DNA helicase homolog: a potential eukaryotic reverse gyrase. Mol. Cell. Biol. 14:8391-98
60. Gerard M, Fischer L, Moncollin V, Chipoulet JM, Chambon P, Egly JM. 1991. Purification and interaction properties of the human RNA polymerase B(II) general transcription factor BTF2. J. Biol. Chem. 266:20940-45
61. German J, Bloom D, Passarge E, Fried K, Goodman RM, et al. 1977. Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am. J. Hum. Genet. 29: 553-62
62. German J, Ellis NA. 1998. Bloom syndrome. In The Genetic Basis of Human Cancer, ed. B Vogelstein, KW Kinzler, 15:301-15. New York: McGraw-Hill. 731 pp.
63. Gharibyan V, Youssoufian H. 1999. Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. Mol. Carcinog. 26: 261-73
64. Gorbalenya AE, Koonin EV, Donchenko AP, Blinov VM. 1989. Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes. Nucleic Acids Res. 17:4713-20
65. Gostissa M, Hengstermann A, Fogal V, Sandy P, Schwarz SE, et al. 1999. Activation of p53 by conjugation to the ubiquitin-like protein SUMO-1. EMBO J. 18:6462-71
66. Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, et al. 1997. Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Hum. Genet. 99:191-93
67. Goto M, Rubenstein M, Weber J, Woods K, Drayna D. 1992. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature 355:735-38
68. Gray MD, Shen J-C, Kamath-Loeb AS, Blank A, Sopher BL, et al. 1997. The Werner syndrome protein is a DNA helicase. Nat. Genet. 17:100-3
69. Gray MD, Wang L, Youssoufian H, Martin GM, Oshima J. 1998. Wemer helicase is localized to transcriptionally active nucleoli of cycling cells. Exp. Cell Res. 242: 487-94
70. Gross CH, Shuman S. 1995. Mutational analysis of vaccinia virus nucleoside triphosphate phosphohydrolase II, a DexH box RNA helicase. J. Virol. 69:4727-36
71. Gross CH, Shuman S. 1996. The QRx-GRxGRxxxG motif of the vaccina virus DexH box RNA helicase NPH-II is required for ATP hydrolysis and RNA unwinding but not for RNA binding. J. Virol. 70:1706-13
72. Guzder SN, Habraken Y, Sung P, Prakash L, Prakash S. 1995. Reconstitution of yeast nucleotide excision-repair with purified Rad proteins, replication protein-A, and transcription fator TFIIH. J. Biol. Chem. 270:12973-76
73. 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: 3860-65
74. Hanaoka F, Takeuchi F, Matsumura T, Goto M, Miyamoto T, Yamada M. 1983. Decrease in the average size of replicons in a Werner syndrome cell line by Simian virus 40 infection. Exp. Cell Res. 144:463-67
75. Harmon FG, DiGate RJ, Kowalczykovski SC. 1999. RecQ helicase and topoisomerase III comprise a novel DNA strand passage function: a conserved mechanism for control of DNA recombination. Mol. Cell. 3:611-20
76. Harmon FG, Kowalczykovski SC. 1998. RecQ helicase, in concert with RecA and SSB proteins, initiates and disrupts DNA recombination. Genes Dev. 12:1134-44
77. He Z, Henricksen LA, Wold MS, Ingles CJ. 1995. RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. Nature 374:566-69
78. Henning KA, Peterson C, Legerski R, Friedberg EC. 1994. Cloning the Drosophila homolog of the xeroderma pigmentosum complementation group C gene reveals homology between the predicted human and Drosophila polypeptides and that encoded by the yeast RAD4 gene. Nucleic Acids Res. 22:257-61
79. Heo SJ, Tatebayashì K, Ohsugi I, Shimamoto A, Furuichi Y, Ikeda H. 1999. Bloom's syndrome gene suppresses premature ageing caused by Sgs1 deficiency in yeast. Genes Cells 4:619-25
80. Huang S, Li B, Gray M, Oshima J, Mian IS, Campisi J. 1998. The premature ageing syndrome protein, WRN, is a 3′ → 5′ exonuclease. Nat. Genet. 20:114-16
81. Hwang BJ, Ford JM, Hanawalt PC, Chu G. 1999. Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair. Proc. Natl. Acad. Sci. USA 96:424-28
82. Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, et al. 1996. A 3′ → 5′ XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J. Biol. Chem. 271:15898-904
83. Imamura O, Ichikawa K, Yamabe Y, Goto M, Sugawara M, et al. 1997. Cloning of a mouse homologue of the human Werner syndrome gene and assignment of 8A4 by fluorescence in situ hybridization. Genomics 41:298-300
84. Johnson FB, Lombard DB, Neff N, Mastrangelo MA, Dewolf W, et al. 2000. Association of the Bloom syndrome protein with topoisomerase III in somatic and meiotic cells. Cancer Res. 60:1162-67
85. Kamath-Loeb AS, Shen JC, Loeb LA, Fry M. 1998. Werner syndrome protein. II. Characterization of the integral 3′ → 5′ DNA exonuclease. J. Biol. Chem. 273:34145-50
86. Kaneko H, Koji OO, Matsui E, Shimozawa N, Fukao T, et al, 1997. BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. BBRC 240:348-53
87. Karow JK, Chakraverty RK, Hickson ID. 1997. The Bloom's syndrome gene product is a 3′-5′ DNA helicase. J. Biol. Chem. 272:30611-14
88. Karow JK, Newman RH, Freemont PS, Hickson ID. 1999. Oligomeric ring structure of the Bloom's syndrome helicase. Curr. Biol. 9:597-600
89. Keeney S, Eker AP, Brody T, Vermeulen W, Bootsma D, et al. 1994. Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding protein. Proc. Natl. Acad. Sci. USA 91:4053-56
90. Kim JL, Morgenstern KA, Griffith JP, Dwyer MD, Thomson JA, et al. 1998. Hepatitis C virus NS3 RNA helicase domain with a bound oligonucleotide: the crystal structure provides insights into the mode of unwinding. Structure 6:89-100
91. Kim S, Dallmann HG, McHenry CS, Marians KJ. 1996. Coupling of a replicative polymerase and helicase: a tau-DnaB interaction mediates rapid replication fork movement. Cell 84:643-50
92. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A. 1999. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 61:268-76
93. Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, et al. 1998. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics 54:443-52
94. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, et al. 1999. Mutations in RecQ4 helicase cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22:82-84
95. Korolev S, Hsieh J, Gauss GH, Lohman T, Waksman G. 1997. Major domain swiveling revealed by the crystal structures of complexes of E. coli Rep helicase bound to single-stranded DNA and ADP. Cell 90:635-47
96. Kusano K, Berres ME, Engels WR. 1999. Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. Genetics 151:1027-39
97. Kyoizumi S, Kusunoki Y, Seyama T, Hatamochi A, Goto M. 1998. In vivo somatic mutations in Werner's syndrome. Hum. Genet. 103:405-10
98. 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 95:13097-102
99. Lebel M, Spillare EA, Harris CC, Leder P. 1999. The Werner syndrome gene product co-purifies with the DNA replication complex and interacts with PCNA and topoisomerase I. J. Biol. Chem. 274:37795-99
100. Lee SK, Johnson RE, Yu SL, Prakash L, Prakash S. 1999. Requirement of yeast SGS1 and SRS2 genes for replication and transcription. Science 286:2339-42
101. Lehmann AR. 1995. Nucleotide excision repair and the link with transcription. Trends Biochem. Sci. 20:402-5
102. LeRoy G, Drapkin R, Weis L, Reinberg D. 1998. Immunoaffinity purification of the human multisubunit transcription factor IIH. J. Biol. Chem. 273:7134-40
103. Li L, Elledge SJ, Peterson CA, Bales ES, Legerski RJ. 1994. Specific association between the human DNA repair proteins XPA and ERCC1. Proc. Natl. Acad. Sci. USA 91:5012-16
104. Ash mutation in the Ashkenazi Jewish population. Mol. Genet. Metab. 64:286-90
105. Lindahl T, Wood RT. 1999. Quality control by DNA repair. Science 286: 1897-905
106. Lindor NM, Devries EM, Michels VV Schad CR, Jalal SM, et al. 1996. Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin. Genet. 49:124-29
107. Liu Z, Macias MJ, Bottomley MJ, Stier G, Linge JP, et al. 1999. The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. Struct. Fold Des. 7:1557-66
108. Lohman TM, Bjornson KP. 1996. Mechanisms of helicase-catalyzed DNA unwinding. Annu. Rev. Biochem. 65: 169-214
109. Lombard DB, Guarente L. 1996. Cloning the gene for Werner syndrome: a disease with many symptoms of premature aging. Trends Genet. 12:283-86
110. Deleted in proof
111. Lu J, Mullen JR, Brill SJ, Kleff S, Romeo AM, et al. 1996. Human homologues of yeast helicase. Nature 383:678-79.
112. Ma L, Siemssen ED, Noteborn HM, van der Eb AJ. 1994. The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity. Nucleic Acids Res. 22:4095-102
113. Mahajan R, Delphin C, Guan T, Gerace L, Melchior F. 1997. A small ubiquitin-related polypeptide involved in targeting RanGAP1 to nuclear pore complex protein RanBP2. Cell 88:97-107
114. Mahajan R, Gerace L, Melchior F. 1998. Molecular characterization of the SUMO-1 modification of RanGAP1 and its role in nuclear envelope association. J. Cell. Biol. 140:259-70
115. Marciniak RA, Lombard DB, Johnson FB, Guarente L. 1998. Nucleolar localization of the Werner syndrome protein in human cells. Proc. Natl. Acad. Sci. USA 95:6887-92
116. Masutani C, Sugasawa K, Yanagisawa J, Sonoyama T, Ui M, et al. 1994. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J. 13:1831-43
117. Matson SW, Bean DW, George JW. 1993. DNA helicases: enzymes with essential roles in all aspects of DNA metabolism. BioEssays 16:13-22
118. Matsumoto T, Shimamoto A, Goto M, Furuichi Y. 1997. Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nat Genet. 16:335-36
119. Matsumoto T, Imamura O, Yamabe Y, Kuromitsu J, Tokutake Y, et al. 1997. Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum. Genet. 100:123-30
120. Matunis MJ, Wu J, Blobel G. 1998. SUMO-1 modification and its role in targeting the Ran GTPase-activating protein, RanGAP1, to the nuclear pore complex. J. Cell. Biol. 140:499-509
121. McDaniel LD, Chester N, Watson M, Okamoto N, Sills BB, et al. 1999. A mouse model for compound heterozygosity at the Bloom syndrome locus. Am. J. Hum. Genet. 65(Suppl.):A49
122. Moreland RJ, Tirade F, Yan Q, Conaway JW, Egly JM, Conaway RC. 1999. A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II. J. Biol. Chem. 274:22127-30
123. Moser MJ, Oshima J, Monnat RJ Jr. 1999. WRN mutations in Werner syndrome. Hum. Mutat. 13:271-79
124. Mounkes LC, Jones RS, Liang BC, Gelbart W, Fuller MT. 1992. A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene. Cell 71:925-37
125. Mu D, Hsu DS, Sancar A. 1996. Reaction mechanism of human DNA repair excision nuclease. J. Biol. Chem. 271:8285-94
126. Mu D, Sancar A. 1997. Model for XPC-independent transcription-coupled repair of pyrimidine dimers in humans. J. Biol. Chem. 272:7570-73
127. Mueller J, Smerdon M. 1996. Rad23 is required for transcription-coupled repair and efficient overall repair in Saccharomyces cerevisiae. Mol. Cell. Biol. 16:2361-68
128. Murray JM, Lindsay HD, Munday CA, Carr AM. 1997. Role of Schizosaccharomyces pombe RecQ homolog, recombination, and checkpoint genes in UV damage tolerance. Mol. Cell. Biol. 17:6868-75
129. Mushegian AR, Bassett DE Jr, Boguski MS, Bork P, Koonin EV. 1997. Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs. Proc. Natl. Acad. Sci. USA 94:5831-36
130. Nakayama H, Nakayama K, Nakayama R, Irino N, Nakayama Y, et al. 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. 195:474-80
131. Neff NF, Ellis NA, Ye T-Z, Noonan J, Huang K, et al. 1999. The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells. Mol. Biol. Cell 10:665-76
132. Nichols AF, Ong P, Linn S. 1996. Mutations specific to the xeroderma pigmentosum group E Ddb-phenotype. J. Biol. Chem. 271:24317-20
133. Oddoux C, Clayton CM, Nelson HR, Ostrer H. 1999. Prevalence of Bloom syndrome heterozygotes among Ashkenzi Jews. Am. J. Hum. Genet. 64:1241-43
134. Ogburn CE, Oshima J, Poot M, Chen R, Hunt KE, et al. 1997. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Hum. Genet. 101:121-25
135. Okura T, Gong L, Kamitani T, Wada T, Okura I, et al. 1996. Protection against Fas/APO-1- and tumor necrosis factor-mediated cell death by a novel protein, sentrin. J. Immunol. 157:4277-81
136. Orren DK, Brosh RM Jr, Nehlin JO, Mach we A, Gray MD, Bohr VA. 1999. Enzymatic and DNA binding properties of purified WRN protein: high affinity binding to single-stranded DNA but not to DNA damage induced 4NQO. Nucleic Acids Res. 27:3557-66
137. Orren DK, Sancar A. 1989. The (A)BC excinuclease of Escherichia coli has only the UvrB and UvrC subunits in the incision complex. Proc. Natl. Acad. Sci. USA 86:5237-41
138. Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, et al. 1996. Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum. Mol. Genet. 5:1909-13
139. Park CH, Mu D, Reardon JT, Sancar A. 1995. The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor. J. Biol. Chem. 270:4896-902
140. Pool M, Gollahon KA, Rabinovitch PS. 1999. Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase. Hum. Genet. 104:10-14
141. Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, et al. 1999. Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum. Genet. 105: 132-38
142. Puranam KL, Blackshear PJ. 1994. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J. Biol. Chem. 269:29838-45
143. Reynaud E, Lomeli H, Vazquez M, Zurita M. 1999. The Drosophila melanogaster homologue of the xeroderma pigmentosum D gene product is located in euchromatic regions and has a dynamic response to UV light-induced lesions in polytene chromosomes. Mol. Biol. Cell 10:1191-203
144. Riou L, Zeng L, Chevallier-Lagente O, Stary A, Nikaido O. 1999. The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. Hum. Mol. Genet. 8:1125-33
145. Roa BB, Savino CV, Richards CS. 1999. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet. Test. 3:219-21
146. Robles AI, Wang XW, Harris CC. 1999. Drug-induced apoptosis is delayed and reduced in XPD lymphoblastoid cell lines: possible role of TFIIH in p53-mediated apoptotic cell death. Oncogene 18: 4681-88
147. Rodriguez MS, Desterro JM, Lain S, Midgley CA, Lane DP, et al. 1999. SUMO-1 modification activates the transcriptional response of p53. EMBO J. 18:6455-61
148. Runyon GT, Bear DG, Lohman TM. 1990. Escherichia coli helicase II (UvrD) protein initiates DNA unwinding at nicks and blunt ends. Proc. Natl. Acad. Sci. USA 87:6383-87
149. Sandberg AA, ed. 1982. Sister Chromatid Exchange. New York: Liss. 706 pp.
150. Sato K, Goto M, Nishioka K, Arima K, Hori N, et al. 1988. Wemer's syndrome associated with malignancies: five case reports with a survey of case histories in Japan. Gerontology 34:212-18
151. Sawaya MR, Guo S, Tabor S, Richardson CC, Ellenberger T. 1999. Crystal structure of the helicase domain from the replicative helicase-primase of bacteriophage T7. Cell 99:167-77
152. Schaeffer L, Moncollin V, Roy R, Staub A, Mezzina M, et al. 1994. The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. EMBO J. 13:2388-92
153. Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, et al. 1993. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260:58-63
154. Schultz RA, McDaniel LD, Luo G, Bradley A. 1998. Development of a mouse model for Bloom syndrome. Am. J. Hum. Genet. 63(Suppl.):A206
155. Sekelsky JJ, Brodsky MH, Rubin GM, Hawley RS. 1999. Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing. Nucleic Acids Res. 27:3762-69
156. Sekelsky JJ, McKim KS, Chin GM, Hawley RS. 1995. The Drosophila meiotic recombination gene mei9 encodes a homologue of the yeast excision repair protein Rad1. Genetics 141:619-27
157. Seki M, Enomoto T, Yanagisawa J, Hanaoka F, Ui M. 1988. Further characterization of DNA helicase activity of mouse DNA-dependent adenosinetriphosphate B (DNA helicase B). Biochemistry 27:1766-71
158. Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, et al. 1994. Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12. Nucleic Acids Res. 22:4566-73
159. Seki M, Yanagisawa J, Kohda T, Sonomaya T, Ui M, et al. 1994. Purification of two DNA-dependent adenosinetriphospatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes. J. Biochem. (Tokyo) 115:523-31
160. Seki T, Tada S, Katada T, Enomoto T. 1997. Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL. BBRC 234: 48-53
161. Seki T, Wang WS, Okumura N, Seki N, Katada T, Enomoto T. 1998. cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level. Biochim. Biophys. Acta 1398:377-81
162. Sen D, Gilbert W. 1988. Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis. Nature 334:364-66
163. Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C. 1998. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet. Test. 2:293-96
164. Shen JC, Gray MD, Oshima J, Kamath-Loeb AS, Fry M, Loeb LA. 1998. Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide. J. Biol. Chem. 273: 34139-44
165. Shen JC, Gray MD, Oshima J, Loeb LA. 1998. Characterization of Werner syndrome protein DNA helicase activity: directionality, substrate dependence and stimulation by replication protein A. Nucleic Acids Res. 26:2879-85
166. Shimamoto T, Tanimura T, Yoneda Y, Kobayakawa Y, Sugasawa K, et al. 1995. Expression and functional analyses of the DXpa gene, the Drosophila homolog of the human excision repair gene XPA. J. Biol. Chem. 270:22452-59
167. Shiratori A, Shibata T, Arisawa M, Hanaoka F, Murakami Y, Eki T. 1999. Systematic identification, classification, and characterization of the open reading frames which encode novel helicase-related proteins in Saccharomyces cerevisiae by gene disruption and Northern analysis. Yeast 15:219-53
168. Shiratori M, Sakamoto S, Suzuki N, Tokutake Y, Kawabe Y, et al. 1999. Detection by epitope-defined monoclonal antibodies of Werner DNA helicases in the nucleoplasm and their upregulation by cell transformation and immortalization. J. Cell. Biol. 144:1-9
169. Deleted in proof
170. Sinclair DA, Mills K, Guarente L. 1997. Accelerated aging and nucleolar fragmentation in yeast sgs1 mutants. Science 277:1313-16
171. Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, et al. 1999. p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev. 13:1355-60
172. Stary A, Sarasin A. 1996. The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes. Cancer Surv. 26:155-71
173. Sternsdorf T, Jensen K, Will H. 1997. Evidence for covalent modification of the nuclear dot-associated proteins PML and Sp100 by PIC1/SUMO-1. J. Cell. Biol. 139:1621-34
174. +, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest. EMBO J. 16:2682-92
175. Story RM, Weber IT, Steitz TA. 1992. The structure of the E. coli recA protein monomer and polymer. Nature 355: 318-25
176. Subramanya HS, Bird LE, Brannigan JA, Wigley DB. 1996. Crystal structure of a DExx box DNA helicase. Nature 384:379-83
177. Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ, et al. 1998. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol. Cell. 2:223-32
178. Sun H, Bennett RJ, Maizels N. 1999. The Saccharomyces cerevisiae Sgs1 helicase efficiently unwinds G-G paired DNAs. Nucleic Acids Res. 27:1978-84
179. Sun H, Karow JK, Hickson ID, Maizels N. 1998. The Bloom's syndrome helicase unwinds G4 DNA. J. Biol. Chem. 273:27587-92
180. Sung P, Bailly V, Weber C, Thompson LH, Prakash L, et al. 1993. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature 365: 852-55
181. Sung P, Higgins D, Prakash L, Prakash S. 1998. Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its AT-Pase and DNA helicase activities but not the ability to bind ATP. EMBO J. 7:3263-69
182. Suzuki N, Shimamoto A, Imamura O, Kuromitsu J, Kitao S, et al. 1997. DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system. Nucleic Acids Res. 25:2973-78
183. Suzuki N, Shiratori M, Goto M, Furuichi Y. 1999. Werner syndrome helicase contains a 5′ → 3′ exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding. Nucleic Acids Res. 27:2361-68
184. Tatusov RL. 1997. COGs. http:// www.ncbi.nlm.nih.gov/COG/
185. Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, 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
186. Theis K, Chen PJ, Skorvaga M, Van Houten B, Kisker C. 1999. Crystal structure of UvrB, a DNA helicase adapted for nucleotide excision repair. EMBO J. 18:6899-907
187. Tirode F, Busso D, Coin F, Egly JM. 1999. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. Mol. Cell. 3:87-95
188. Umezu K, Nakayama HJ. 1993. RecQ DNA helicase of Escherichia coli. Characterization of the helix-unwinding activity with emphasis on the effect of single-stranded DNA-binding protein. J. Mol. Biol. 230:1145-50
189. Umezu K, Nakayama K, Nakayama H. 1990. Escherichia coli RecQ protein is a DNA helicase. Proc. Natl. Acad. Sci. USA 87:5363-67
190. van Hoffen A, Natarajan AT, Mayne LV, van Zeeland AA, Mullenders LH, et al. 1993. Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. Nucleic Acids Res. 21: 5890-95
191. Van Houten B. 1990. Nucleotide excision repair in Escherichia coli. Microbiol. Rev. 54:18-51
192. Velankar SS, Soultanas P, Dillingham MS, Subramanya HS, Wigley DB. 1999. Crystal structures of complexes of PcrA DNA helicase with a DNA substrate indicate an inchworm mechanism. Cell 97:75-84
193. Venema J, Mullenders LH, Natarajan AT, van Zeeland AA, Mayne L. 1990. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc. Natl. Acad. Sci. USA 87:4707-11
194. Vennos EM, Collins M, James WD. 1992. Rothmund-Thomson syndrome: review of the world literature. J. Am. Acad. Dermatol. 27:750-62
195. Vennos EM, James WD. 1995. Rothmund-Thomson syndrome. Dermatol. Clin. 13:143-50
196. Wallis JW, Chrebet G, Brodsky G, Rolfe M, Rothstein R. 1989. A hyperrecombination mutation in S. cerevisiae identifies a novel eukaryotic topoisomerase. Cell 58:408-19
197. Walpita D, Plug AW, Neff NF, German J, Ashley T. 1999. Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. Proc. Natl. Acad. Sci. USA 96:5622-27
198. 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. 26:3480-85
199. Wang WS, Seki M, Yamaoka T, Seki T, Tada S, et al. 1998. Cloning of two isoforms of mouse DNA helicase Q1/RecQL cDNA: Alpha form is expressed ubiquitously and beta form specifically in the testis. Biochim. Biophys. Acta 1443:198-202
200. Wang XW, Vermeulen W, Coursen JD, Gibson M, Lupold SE, et al. 1996. The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev. 10:1219-32
201. Wang XW, Yen H, Schaeffer L, Roy R, Moncollin V, et al. 1995. p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat. Genet. 10:188-95
202. Wang Z, Buratowski S, Svejstrup JQ, Feaver WJ, Wu X, et al. 1995. The yeast TFB1 and SSL1 genes, which encode subunits of transcription factor IIH, are required for nucleotide excision repair and RNA polymerase II transcription. Mol. Cell. Biol. 15:2288-93
203. Wang Z, Svejstrup JQ, Feaver WJ, Wu X, Kornberg RD, et al. 1994. Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast. Nature 368:74-76
204. 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 144:935-45
205. 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 81:253-60
206. Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, et al. 1997. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet. 60:320-29
207. Weeda G, van Ham RCA, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JHJ. 1990. A presumed DNA helicase encoded by ERCC-3 is involved in human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell 62: 777-91
208. Williamson JR, Raghuraman MK, Cech TR. 1989. Monovalent cation-induced structure of telomeric DNA: the G-quartet model. Cell 59:871-80
209. Winkler GS, Vermeulen W, Coin F, Egly JM, Hoeijmakers JH, et al. 1998. Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. J. Biol. Chem. 273:1092-98
210. Wong I, Chao KL, Bujalowski W, LohmanTM. 1992. DNA-induced dimerization of the Escherichia coli rep helicase: allosteric effects of single-stranded and duplex DNA. J. Biol. Chem. 267:7596-610
211. Wong I, Lohman TM. 1992. Allosteric effects of nucleotide cofactors on Escherichia coli Rep helicase-DNA binding. Science 256:350-55
212. Wu L, Davies SL, North PS, Goulaouic H, Riou J-F, et al. 2000. The Bloom's syndrome gene product interacts with topoisomerase III. J. Biol. Chem. 275:9635-44
213. Yamabe Y, Sugimoto M, Satoh M, Suzuki N, Sugawara M, et al. 1997. Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem. Biophys. Res. Commun. 236:151-54
214. 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 for genomic instability in human diseases. Proc. Natl. Acad. Sci. USA 95:8733-38
215. Yan H, Chen CY, Kobayashi R, Newport J. 1998. Replication focus-forming activity 1 and the Werner syndrome gene product. Nat. Genet. 19:375-78
216. Yao N, Hessen T, Cable M, Hong Z, Kwong AD, et al. 1997. Structure of the hepatitis C virus RNA helicase domain. Nat. Struct. Biol. 4:463-67
217. Yarranton GT, Gefter ML. 1979. Enzyme-catalyzed DNA unwinding: studies on Escherichia coli rep protein. Proc. Natl. Acad. Sci. USA 76:1658-62
218. Ting KL, Oizumi J, Curry CJR. 1990. Rothmund-Thomson syndrome associated with trisomy-8 mosaicism. J. Med. Genet. 27:258-60
219. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, et al. 1996. Positional cloning of the Werner's syndrome gene. Science 27:258-60
220. Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, et al. 1997. Mutations in the consensus helicase domains of the Werner syndrome gene: Werner's Syndrome Collaborative Group. Am. J. Hum. Genet. 60:330-41
221. Zhong S, Hu P, Ye T-Z, Stan R, Ellis NA, Pandolfi PP. 1999. A role for PML and the nuclear body in genomic stability. Oncogene 18:7941-47