The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients

Aging

Volumn 4, Issue 11, 2012, Pages 790-802

  Jensen, Martin Borch ^a   Dunn, Christopher A ^a   Keijzers, Guido ^a   Kulikowicz, Tomasz ^b   Rasmussen, Lene Juel ^a   Croteau, Deborah L ^b   Bohr, Vilhelm A ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

RAPADILINO Syndrome; RecQ helicase; RECQL4; Rothmund Thomson Syndrome

Indexed keywords

EID: 84872544485     PISSN: 19454589     EISSN: None     Source Type: Journal    
DOI: 10.18632/aging.100506     Document Type: Editorial

References (50)

1. Bohr VA. Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends in biochemical sciences. 2008; 33:609-620.
2. Seki M, Otsuki M, Ishii Y, Tada S. RecQ family helicases in genome stability: Lessons from gene disruption studies in DT40 cells. Cell Cycle. 2008; 7:2472-2478.
3. Sharma S, Doherty KM, Brosh RM. Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability. The Biochemical journal. 2006 15; 398:319-337.
4. Bernstein KA, Gangloff S, Rothstein R. The RecQ DNA helicases in DNA repair. Annual review of genetics. 2010; 44:393-417.
5. Sangrithi MN, Bernal J a, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell. 2005; 121:887-898.
6. Bachrati CZ, Hickson ID. RecQ helicases: suppressors of tumorigenesis and premature aging. The Biochemical journal. 2003; 374:577-606.
7. Hanada K, Hickson ID. Molecular genetics of RecQ helicase disorders. Cellular and molecular life sciences. 2007; 64:2306-2322.
8. Brosh RM, Bohr VA. Human premature aging, DNA repair and RecQ helicases. Nucleic acids research. 2007; 35:7527-7544.
9. Dietschy T, Shevelev I, Stagljar I. The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. Cellular and molecular life sciences CMLS. 2007; 64:796-802.
10. Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen A-M, Peltonen L, Kestilä M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Human molecular genetics. 2003; 12:2837-2844.
11. Van Brabant A, Stan R, Ellis NA. DNA helicases, genomic instability, and human genetic disease. Annual Review of Genomics and Human Genetics. 2000;
12. Bartos JD, Wang W, Pike JE, Bambara RA. Mechanisms by which Bloom protein can disrupt recombination intermediates of Okazaki fragment maturation. The Journal of biological chemistry. 2006; 281:32227-32239.
13. Karow J, Constantinou A. The Bloom's syndrome gene product promotes branch migration of Holliday junctions. Proceedings of the National Academy of Sciences of the United States of America. 2000; 97:6504-6508.
14. Mohaghegh P, Karow J, Brosh RM. The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic acids research. 2001; 29:2843-2849.
15. Neff NF, Ellis N a, Ye TZ, Noonan J, Huang K, Sanz M, Proytcheva M. The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. Molecular biology of the cell. 1999; 10:665-676.
16. Cheng W, Kobbe C Von, Opresko P, Fields KM, Ren J, Kufe D, Bohr VA. Werner syndrome protein phosphorylation by abl tyrosine kinase regulates its activity and distribution. Molecular and cellular biologyand cellular biology. 2003;
17. Fry M, Loeb LA. Human Werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n. Journal of Biological Chemistry. 1999; 274:12797-12802.
18. Sun H, Karow J, Hickson I. The Bloom's syndrome helicase unwinds G4 DNA. Journal of Biological Chemistry. 1998; 273:27587-27592.
19. Yannone SM, Roy S, Chan DW, Murphy MB, Huang S, Campisi J, Chen DJ. Werner syndrome protein is regulated and phosphorylated by DNA-dependent protein kinase. The Journal of biological chemistry. 2001; 276:38242-38248.
20. Xu X, Rochette PJ, Feyissa E a, Su T V, Liu Y. MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication. The EMBO journal. Nature Publishing Group; 2009; 28:3005-3014.
21. Capp C, Wu J, Hsieh T-S. RecQ4: the second replicative helicase? Critical reviews in biochemistry and molecular biology. 2010; 45:233-242.
22. Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM, Croteau DL, Bohr VA. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Human molecular genetics. 2009; 18:3470-3483.
23. Woo LL, Futami K, Shimamoto A, Furuichi Y, Frank KM. The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Experimental cell research. 2006; 312:3443-3457.
24. Yin J, Kwon YT, Varshavsky A, Wang W. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Human molecular genetics. 2004; 13:2421-2430.
25. Singh DK, Karmakar P, Aamann M, Schurman SH, May A, Croteau DL, Burks L, Plon SE, Bohr VA. The involvement of human RECQL4 in DNA double-strand break repair. Aging cell. 2010; 9:358-371.
26. Macris M a, Krejci L, Bussen W, Shimamoto A, Sung P. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA repair. 2006; 5:172-180.
27. Xu X, Liu Y. Dual DNA unwinding activities of the Rothmund- Thomson syndrome protein, RECQ4. The EMBO journal. 2009; 28:568-577.
28. Rossi ML, Ghosh AK, Kulikowicz T, Croteau DL, Bohr VA. Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding. DNA repair. Elsevier B.V. 20101; 9:796-804.
29. Suzuki T, Kohno T, Ishimi Y. DNA helicase activity in purified human RECQL4 protein. Journal of biochemistry. 2009; 146:327-335.
30. Im J-S, Ki S-H, Farina A, Jung D-S, Hurwitz J, Lee J-K. Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins. Proceedings of the National Academy of Sciences of the United States of America. 2009; 106:15628-15632.
31. Abe T, Yoshimura A, Hosono Y, Tada S, Seki M, Enomoto T. The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells. Role of the N-terminal region of RECQL4 in cells. Biochimica et biophysica acta. Elsevier B.V. 2011; 813:473-479.
32. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A. Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics. 1999; 61:268-276.
33. Fan W, Luo J. RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). The Journal of biological chemistry. 2008; 283:29037-29044.
34. Werner SR, Prahalad AK, Yang J, Hock JM. RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund- Thomson syndrome. Biochemical and biophysical research communications. 2006; 345:403-409.
35. Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Human genetics. 2008; 123:643-653.
36. Kumata Y, Tada S, Yamanada Y, Tsuyama T, Kobayashi T, Dong Y-P, Ikegami K, Murofushi H, Seki M, Enomoto T. Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts. Biochimica et biophysica acta. 2007; 1773:556-564.
37. Petkovic M, Dietschy T, Freire R, Jiao R, Stagljar I. The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability. Journal of cell science. 2005; 118:4261-4269.
38. Xu Y, Lei Z, Huang H, Dui W, Liang X, Ma J, Jiao R. dRecQ4 is required for DNA synthesis and essential for cell proliferation in Drosophila. PloS one. 2009; 4:e6107.
39. Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer letters. 2006; 232:107-120.
40. Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet journal of rare diseases. 2010; 5:2.
41. Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases. European journal of human genetics. 2009; 17:151-158.
42. Matsuno K, Kumano M, Kubota Y, Hashimoto Y, Takisawa H. The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication. Molecular and cellular biology. 2006; 26:4843-4852.
43. Wu J, Capp C, Feng L, Hsieh T. Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. Developmental biology. Elsevier Inc. 2008; 323:130-142.
44. Lavinder JJ, Hari SB, Sullivan BJ, Magliery TJ. High-throughput thermal scanning: a general, rapid dye-binding thermal shift screen for protein engineering. Journal of the American Chemical Society. 2009; 131:3794-3795.
45. Dietschy T, Shevelev I, Pena-Diaz J, Huhn D, Kuenzle S, Mak R, Miah MF, Hess D, Fey M, Hottiger MO, Janscak P, Stagljar I. p300-mediated acetylation of the Rothmund-Thomsonsyndrome gene product RECQL4 regulates its subcellular localization. Journal of Cell Science. 2009; 122:1701-1701.
46. Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr V a. RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. Biochimica et biophysica acta. Elsevier B.V. 2012; 1822:1727-1734.
47. Richardson JS, Richardson DC. Amino acid preferences for specific locations at the ends of alpha helices. Science (New York, N.Y.) 1988; 240:1648-1652.
48. Kohzaki M, Chiourea M, Versini G, Adachi N, Takeda S, Gagos S, Halazonetis TD. The helicase domain and C-terminus of human RecQL4 facilitate replication elongation on DNA templates damaged by ionizing radiation. Carcinogenesis. 2012; 33:1203-1210.
49. Liberti SE, Andersen SD, Wang J, May A, Miron S, Perderiset M, Keijzers G, Nielsen FC, Charbonnier J-B, Bohr VA, Rasmussen LJ. Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaks. DNA repair. Elsevier B.V.; 2011; 10:73-86.
50. Fairman-Williams ME, Guenther U-P, Jankowsky E. SF1 and SF2 helicases: family matters. Current opinion in structural biology. 2010; 20:313-324.