Human diseases deficient in RecQ helicases

Biochimie

Volumn 85, Issue 11, 2003, Pages 1185-1193

  Harrigan, J A ^a   Bohr, V A ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Bloom syndrome; Helicase; RecQ; Rothmund Thompson syndrome; Werner syndrome

Indexed keywords

HELICASE; KU ANTIGEN; LAMIN A; LAMIN C; PROTEIN; PROTEIN BLM; PROTEIN RECQL4; RECQ HELICASE; UNCLASSIFIED DRUG; WERNER SYNDROME PROTEIN;

BACTERIUM; BLOOM SYNDROME; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CELL FUNCTION; CLINICAL FEATURE; DNA RECOMBINATION; DNA REPAIR; DNA REPLICATION; ENZYME DEFICIENCY; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC STABILITY; GENOME; HUMAN; PHENOTYPE; PROTEIN FAMILY; PROTEIN FUNCTION; REGULATORY MECHANISM; REVIEW; ROTHMUND THOMSON SYNDROME; TELOMERE; WERNER SYNDROME;

EID: 0942289875     PISSN: 03009084     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biochi.2003.10.006     Document Type: Article

References (87)

1. Nakayama H., Nakayama K., Nakayama R., Irino N., Nakayama Y., Hanawalt P.C. 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. 195:1984;474-480.
2. Courcelle J., Hanawalt P.C. RecQ and RecJ process blocked replication forks prior to the resumption of replication in UV-irradiated Escherichia coli. Mol. Gen. Genet. 262:1999;543-551.
3. Hanada K., Ukita T., Kohno Y., Saito K., Kato J., Ikeda H. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli. Proc. Natl. Acad. Sci. USA. 94:1997;3860-3865.
4. Bjergbaek L., Cobb J.A., Gasser S.M. RecQ helicases and genome stability: lessons from model organisms and human disease. Swiss. Med. Wkly. 132:2002;433-442.
5. Stewart E., Chapman C.R., Al-Khodairy F., Carr A.M., Enoch T. rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest. EMBO J. 16:1997;2682-2692.
6. Hickson I.D. RecQ helicases: caretakers of the genome. Nat. Rev. Cancer. 3:2003;169-178.
7. German J. Bloom's syndrome. Dermatol. Clin. 13:1995;7-18.
8. German J. Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine (Baltimore). 72:1993;393-406.
9. Ellis N.A., Groden J., Ye T.Z., Straughen J., Lennon D.J., Ciocci S., Proytcheva M., German J. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 83:1995;655-666.
10. Lonn U., Lonn S., Nylen U., Winblad G., German J. An abnormal profile of DNA replication intermediates in Bloom's syndrome. Cancer Res. 50:1990;3141-3145.
11. Gianneli F., Benson P.F., Pawsey S.A., Polani P.E. Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom's syndrome fibroblasts. Nature. 265:1977;466-469.
12. Krepinsky A.B., Heddle J.A., German J. Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate. Hum. Genet. 50:1979;151-156.
13. Ishizaki K., Yagi T., Inoue M., Nikaido O., Takebe H. DNA repair in Bloom's syndrome fibroblasts after UV irradiation or treatment with mitomycin C. Mutat. Res. 80:1981;213-219.
14. Kurihara T., Inoue M., Tatsumi K. Hypersensitivity of Bloom's syndrome fibroblasts to N-ethyl-N-nitrosourea. Mutat. Res. 184:1987;147-151.
15. Ababou M., Dutertre S., Lecluse Y., Onclercq R., Chatton B., Amor-Gueret M. ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation. Oncogene. 19:2000;5955-5963.
16. Bischof O., Galande S., Farzane F., Kohwi-Shigematsu T., Campisi J. Selective cleavage of BLM, the Bloom syndrome protein, during apoptotic cell death. J. Biol. Chem. 276:2001;12068-12075.
17. Wu L., Davies S.L., North P.S., Goulaouic H., Riou J.F., Turley H., Gatter K.C., Hickson I.D. The Bloom's syndrome gene product interacts with topoisomerase III. J. Biol. Chem. 275:2000;9636-9644.
18. Johnson F.B., Lombard D.B., Neff N.F., Mastrangelo M.A., Dewolf W., Ellis N.A., Marciniak R.A., Yin Y., Jaenisch R., Guarente L. Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res. 60:2000;1162-1167.
19. Wu L., Hickson I.D. The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalpha. Nucleic Acids Res. 30:2002;4823-4829.
20. Gangloff S., McDonald J.P., Bendixen C., Arthur L., Rothstein R. The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase. Mol. Cell. Biol. 14:1994;8391-8398.
21. Watt P.M., Louis E.J., Borts R.H., Hickson I.D. Sgs1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation. Cell. 81:1995;253-260.
22. Franchitto A., Pichierri P. Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. J. Cell Biol. 157:2002;19-30.
23. Mohaghegh P., Karow J.K., Brosh J.R. Jr, Bohr V.A., Hickson I.D. The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res. 29:2001;2843-2849.
24. Wu L., Davies S.L., Levitt N.C., Hickson I.D. Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51. J. Biol. Chem. 276:2001;19375-19381.
25. Karow J.K., Wu L., Hickson I.D. RecQ family helicases: roles in cancer and aging. Curr. Opin. Genet. Dev. 10:2000;32-38.
26. Langland G., Kordich J., Creaney J., Heppner G.K., Lillard-Wetherell K., Bebenek K., Kunkel T.A., Groden J. The BLM helicase interacts with hMLH1 but is not required for DNA mismatch repair. J. Biol. Chem. 276:2001;30031-30035.
27. Pedrazzi G., Perrera C., Blaser H., Kuster P., Marra G., Davies S.L., Ryu G.H., Freire R., Hickson I.D., Jiricny J., Stagljar I. Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1. Nucleic Acids Res. 29:2001;4378-4386.
28. Myung K., Datta A., Chen C., Kolodner R.D. SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homologous recombination. Nat. Genet. 27:2001;113-116.
29. Gaymes T.J., North P.S., Brady N., Hickson I.D., Mufti G.J., Rassool F.V. Increased error-prone nonhomologous DNA end-joining - a proposed mechanism of chromosomal instability in Bloom's syndrome. Oncogene. 21:2002;2525-2533.
30. Tsukamoto Y., Kato J., Ikeda H. Silencing factors participate in DNA repair and recombination in Saccharomyces cerevisiae. Nature. 388:1997;900-903.
31. Kusano K., Johnson-Schlitz D.M., Engels W.R. Sterility of Drosophila with mutations in the Bloom syndrome gene - complementation by Ku70. Science. 291:2001;2600-2602.
32. Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14:2000;927-939.
33. Brosh R.M. Jr, Bohr V.A. Roles of the Werner syndrome protein in pathways required for maintenance of genome stability. Exp. Gerontol. 37:2002;491-506.
34. 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. Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum. Genet. 100:1997;123-130.
35. Epstein C.J., Martin G.M., Schultz A.L., Motulsky A.G. Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore). 45:1966;177-221.
36. Yu C.E., Oshima J., Fu Y.H., Wijsman E.M., Hisama F., Alisch R., Matthews S., Nakura J., Miki T., Ouais S., Martin G.M., Mulligan J., Schellenberg G.D. Positional cloning of the Werner's syndrome gene. Science. 272:1996;258-262.
37. Nakura J., Wijsman E.M., Miki T., Kamino K., Yu C.E., Oshima J., Fukuchi K., Weber J.L., Piussan C., Melaragno M.I. Homozygosity mapping of the Werner syndrome locus (WRN). Genomics. 23:1994;600-608.
38. Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet. 362:2003;440-445.
39. Fukuchi K., Martin G.M., Monnat R.J. Jr. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. USA. 86:1989;5893-5897.
40. Salk D., Au K., Hoehn H., Martin G.M. Cytogenetics of Werner's syndrome cultured skin fibroblasts: variegated translocation mosaicism. Cytogenet. Cell Genet. 30:1981;92-107.
41. Cheng W.-H., Opresko P.L., von Kobbe C., Harrigan J.A., Bohr V.A. The human Werner syndrome as a model system for aging. Nystrom T., Osiewacz H.D. Topics in Current Genetics. 2003;239-268 Springer-Verlag, Berlin.
42. Pichierri P., Franchitto A., Mosesso P., Palitti F. Werner's syndrome protein is required for correct recovery after replication arrest and DNA damage induced in S-phase of cell cycle. Mol. Biol. Cell. 12:2001;2412-2421.
43. Constantinou A., Tarsounas M., Karow J.K., Brosh R.M., Bohr V.A., Hickson I.D., West S.C. Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest. EMBO Rep. 1:2000;80-84.
44. Cobb J.A., Bjergbaek L., Shimada K., Frei C., Gasser S.M. DNA polymerase stabilization at stalled replication forks requires Mec1 and the RecQ helicase Sgs1. EMBO J. 22:2003;4325-4336.
45. Opresko P.L., Cheng W.H., von Kobbe C., Harrigan J.A., Bohr V.A. Werner syndrome and the function of the Werner protein; what they can teach us about the molecular aging process. Carcinogenesis. 24:2003;791-802.
46. Kamath-Loeb A.S., Johansson E., Burgers P.M., Loeb L.A. Functional interaction between the Werner syndrome protein and DNA polymerase delta. Proc. Natl. Acad. Sci. USA. 97:2000;4603-4608.
47. Laine J.-P., Opresko P.L., Indig F.E., Harrigan J.A., von Kobbe C., Bohr V.A. Werner protein stimulates topoisomerase I DNA relaxation activity. Cancer Res. 2003;. (in press).
48. Brosh R.M. Jr, von Kobbe C., Sommers J.A., Karmakar P., Opresko P.L., Piotrowski J., Dianova I., Dianov G.L., Bohr V.A. Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity. EMBO J. 20:2001;5791-5801.
49. Saintigny Y., Makienko K., Swanson C., Emond M.J., Monnat R.J. Jr. Homologous recombination resolution defect in Werner syndrome. Mol. Cell Biol. 22:2002;6971-6978.
50. Prince P.R., Emond M.J., Monnat R.J. Jr. Loss of Werner syndrome protein function promotes aberrant mitotic recombination. Genes Dev. 15:2001;933-938.
51. Baynton K., Otterlei M., Bjoras M., von Kobbe C., Bohr V.A., Seeberg E. WRN interacts physically and functionally with the recombination mediator protein RAD52. J. Biol. Chem. 278:2003;36476-36486.
52. Chen L., Huang S., Lee L., Davalos A., Schiestl R.H., Campisi J., Oshima J. WRN, the protein deficient in Werner syndrome, plays a critical structural role in optimizing DNA repair. Aging Cell. 2:2003;191-199.
53. Oshima J., Huang S., Pae C., Campisi J., Schiestl R.H. Lack of WRN results in extensive deletion at nonhomologous joining ends. Cancer Res. 62:2002;547-551.
54. Harrigan J.A., Opresko P.L., von Kobbe C., Kedar P.S., Prasad R., Wilson S.H., Bohr V.A. The Werner syndrome protein stimulates DNA polymerase beta strand displacement synthesis via its helicase activity. J. Biol. Chem. 278:2003;22686-22695.
55. Shevelev I.V., Hubscher U. The 3 5 exonucleases. Nat. Rev. Mol. Cell Biol. 3:2002;364-376.
56. Beckman K.B., Ames B.N. The free radical theory of aging matures. Physiol Rev. 78:1998;547-581.
57. Caldecott K.W. Protein-protein interactions during mammalian DNA single-strand break repair. Biochem. Soc. Trans. 31:2003;247-251.
58. von Kobbe C., Harrigan J.A., May A., Opresko P.L., Dawut L., Cheng W.-H., Bohr V.A. A central role for the WRN/PARP-1 complex in the poly(ADP-ribosyl) ation pathway after DNA damage. Mol. Cell. Biol. 2003;. (in press).
59. Machwe A., Ganunis R., Bohr V.A., Orren D.K. Selective blockage of the 3 5 exonuclease activity of WRN protein by certain oxidative modifications and bulky lesions in DNA. Nucleic Acids Res. 28:2000;2762-2770.
60. Featherstone C., Jackson S.P. Ku, a DNA repair protein with multiple cellular functions? Mutat. Res. 434:1999;3-15.
61. Opresko P.L., von Kobbe C., Laine J.P., Harrigan J., Hickson I.D., Bohr V.A. Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. J. Biol. Chem. 277:2002;41110-41119.
62. Bai Y., Murnane J.P. Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein. Hum. Genet. 113:2003;337-347.
63. Cohen H., Sinclair D.A. Recombination-mediated lengthening of terminal telomeric repeats requires the Sgs1 DNA helicase. Proc. Natl. Acad. Sci. USA. 98:2001;3174-3179.
64. Huang P., Pryde F.E., Lester D., Maddison R.L., Borts R.H., Hickson I.D., Louis E.J. SGS1 is required for telomere elongation in the absence of telomerase. Curr. Biol. 11:2001;125-129.
65. Johnson F.B., Marciniak R.A., McVey M., Stewart S.A., Hahn W.C., Guarente L. The Saccharomyces cerevisiae WRN homolog Sgs1p participates in telomere maintenance in cells lacking telomerase. EMBO J. 20:2001;905-913.
66. Wang L.L., Levy M.L., Lewis R.A., Chintagumpala M.M., Lev D., Rogers M., Plon S.E. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am. J. Med. Genet. 102:2001;11-17.
67. Lindor N.M., Furuichi Y., Kitao S., Shimamoto A., Arndt C., Jalal S. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 90:2000;223-228.
68. Kitao S., Ohsugi I., Ichikawa K., Goto M., Furuichi Y., Shimamoto A. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics. 54:1998;443-452.
69. Kitao S., Lindor N.M., Shiratori M., Furuichi Y., Shimamoto A. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics. 61:1999;268-276.
70. Kitao S., Shimamoto A., Goto M., Miller R.W., Smithson W.A., Lindor N.M., Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22:1999;82-84.
71. Wang L.L., Gannavarapu A., Kozinetz C.A., Levy M.L., Lewis R.A., Chintagumpala M.M., Ruiz-Maldanado R., Contreras-Ruiz J., Cunniff C., Erickson R.P., Lev D., Rogers M., Zackai E.H., Plon S.E. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J. Natl. Cancer Inst. 95:2003;669-674.
72. Berget S.M. Exon recognition in vertebrate splicing. J. Biol. Chem. 270:1995;2411-2414.
73. van Santen V.L., Spritz R.A. mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. Proc. Natl. Acad. Sci. USA. 82:1985;2885-2889.
74. Wang L.L., Worley K., Gannavarapu A., Chintagumpala M.M., Levy M.L., Plon S.E. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am. J. Hum. Genet. 71:2002;165-167.
75. Balraj P., Concannon P., Jamal R., Beghini A., Hoe T.S., Khoo A.S., Volpi L. An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat. Res. 508:2002;99-105.
76. Beghini A., Castorina P., Roversi G., Modiano P., Larizza L. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am. J. Med. Genet. 120A:2003;395-399.
77. Kerr B., Ashcroft G.S., Scott D., Horan M.A., Ferguson M.W., Donnai D. Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. J. Med. Genet. 33:1996;928-934.
78. Smith P.J., Paterson M.C. Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund-Thomson syndrome patients. Mutat. Res. 94:1982;213-228.
79. Shinya A., Nishigori C., Moriwaki S., Takebe H., Kubota M., Ogino A., Imamura S. A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. Arch. Dermatol. 129:1993;332-336.
80. Prache-de-Carrere B., Teillac-Hamel D., Capesius C., Castelneau J.P., Robert C., Fraitag S., de Prost Y. Rothmund-Thomson syndrome with reduced DNA repair capacity. Ann. Dermatol. Venereol. 123:1996;395-397.
81. Vasseur F., Delaporte E., Zabot M.T., Sturque M.N., Barrut D., Savary J.B., Thomas L., Thomas P. Excision repair defect in Rothmund-Thomson syndrome. Acta Derm. Venereol. 79:1999;150-152.
82. Grant S.G., Wenger S.L., Latimer J.J., Thull D., Burke L.W. Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin. Genet. 58:2000;209-215.
83. Mankouri H.W., Craig T.J., Morgan A. SGS1 is a multicopy suppressor of srs2: functional overlap between DNA helicases. Nucleic Acids Res. 30:2002;1103-1113.
84. Veaute X., Jeusset J., Soustelle C., Kowalczykowski S.C., Le Cam E., Fabre F. The Srs2 helicase prevents recombination by disrupting Rad51 nucleoprotein filaments. Nature. 423:2003;309-312.
85. Krejci L., Van Komen S., Li Y., Villemain J., Reddy M.S., Klein H., Ellenberger T., Sung P. DNA helicase Srs2 disrupts the Rad51 presynaptic filament. Nature. 423:2003;305-309.
86. Fabre F., Chan A., Heyer W.D., Gangloff S. Alternate pathways involving Sgs1/Top3, Mus81/Mms4, and Srs2 prevent formation of toxic recombination intermediates from single-stranded gaps created by DNA replication. Proc. Natl. Acad. Sci. USA. 99:2002;16887-16892.
87. Sobol R.W., Kartalou M., Almeida K.H., Joyce D.F., Engelward B.P., Horton J.K., Prasad R., Samson L.D., Wilson S.H. Base excision repair intermediates induce p53-independent cytotoxic and genotoxic responses. J. Biol. Chem. 278:2003;39951-39959.