RECQL4 in genomic instability and aging

Trends in Genetics

Volumn 28, Issue 12, 2012, Pages 624-631

  Croteau, Deborah L ^a   Singh, Dharmendra Kumar ^a   Hoh Ferrarelli, Leslie ^a   Lu, Huiming ^a   Bohr, Vilhelm A ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Aging; Cancer; RecQ helicase; Rothmund Thomson syndrome

Indexed keywords

HELICASE; RECQL4 HELICASE; UNCLASSIFIED DRUG;

AGING; BALLER GEROLD SYNDROME; CANCER SUSCEPTIBILITY; CATARACT; DNA REPLICATION; GENE MUTATION; GENOMIC INSTABILITY; HUMAN; LYMPHOMA; NONHUMAN; OSTEOSARCOMA; POIKILODERMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RAPADILINO SYNDROME; REVIEW; ROTHMUND THOMSON SYNDROME; SCANTY HAIR; SHORT STATURE;

AGING; ANIMALS; GENOMIC INSTABILITY; HUMANS; MICE; MITOCHONDRIA; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; TELOMERE;

EID: 84869083251     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2012.08.003     Document Type: Review

References (63)

1. Siitonen H.A., et al. The mutation spectrum in RECQL4 diseases. Eur. J. Hum. Genet. 2009, 17:151-158.
2. Larizza L., et al. Rothmund-Thomson syndrome. Orphanet J. Rare Dis. 2010, 5:2.
3. Wang L.L., et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J. Natl. Cancer Inst. 2003, 95:669-674.
4. Larizza L., et al. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 2006, 232:107-120.
5. Kitao S., et al. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 1999, 61:268-276.
6. Kitao S., et al. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics 1998, 54:443-452.
7. Kawabe T., et al. Differential regulation of human RecQ family helicases in cell transformation and cell cycle. Oncogene 2000, 19:4764-4772.
8. Choi Y.W., et al. Gene expression profiles in squamous cell cervical carcinoma using array-based comparative genomic hybridization analysis. Int. J. Gynecol. Cancer 2007, 17:687-696.
9. Saglam O., et al. Molecular differentiation of early and late stage laryngeal squamous cell carcinoma: an exploratory analysis. Diagn. Mol. Pathol. 2007, 16:218-221.
10. Maire G., et al. Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma. Neoplasia 2009, 11:260-268. 3p.
11. Sadikovic B., et al. Expression analysis of genes associated with human osteosarcoma tumors shows correlation of RUNX2 overexpression with poor response to chemotherapy. BMC Cancer 2010, 10:202.
12. Su Y., et al. Human RecQL4 helicase plays critical roles in prostate carcinogenesis. Cancer Res. 2010, 70:9207-9217.
13. Sengupta S., et al. Tumor suppressor p53 represses transcription of RECQ4 helicase. Oncogene 2005, 24:1738-1748.
14. Yamabe Y., et al. Sp1-mediated transcription of the Werner helicase gene is modulated by Rb and p53. Mol. Cell. Biol. 1998, 18:6191-6200.
15. Reinhardt H.C., Schumacher B. The p53 network: cellular and systemic DNA damage responses in aging and cancer. Trends Genet. 2012, 28:128-136.
16. Petkovic M., et al. The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability. J. Cell Sci. 2005, 118:4261-4269.
17. Woo L.L., et al. The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Exp. Cell Res. 2006, 312:3443-3457.
18. Yin J., et al. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Hum. Mol. Genet. 2004, 13:2421-2430.
19. Fan W., Luo J. RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). J. Biol. Chem. 2008, 283:29037-29044.
20. Schurman S.H., et al. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Hum. Mol. Genet. 2009, 18:3470-3483.
21. Singh D.K., et al. The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell 2010, 9:358-371.
22. Croteau D.L., et al. RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity. Aging Cell 2012, 11:456-466.
23. De S., et al. RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress. J. Cell Sci. 2012, 125:2509-2522.
24. Kohzaki M., et al. The helicase domain and C-terminus of human RecQL4 facilitate replication elongation on DNA templates damaged by ionizing radiation. Carcinogenesis 2012, 33:1203-1210.
25. Sangrithi M.N., et al. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell 2005, 121:887-898.
26. Matsuno K., et al. The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication. Mol. Cell. Biol. 2006, 26:4843-4852.
27. Abe T., et al. 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. Biochim. Biophys. Acta 2011, 1813:473-479.
28. Burks L.M., et al. Nuclear import and retention domains in the amino terminus of RECQL4. Gene 2007, 391:26-38.
29. Dietschy T., et al. p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. J. Cell Sci. 2009, 122:1258-1267.
30. Macris M.A., et al. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA Repair (Amst.) 2006, 5:172-180.
31. Xu X., Liu Y. Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. EMBO J. 2009, 28:568-577.
32. Suzuki T., et al. DNA helicase activity in purified human RECQL4 protein. J. Biochem. 2009, 146:327-335.
33. Rossi M.L., et al. Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding. DNA Repair (Amst.) 2010, 9:796-804.
34. Huber M.D., et al. A conserved G4 DNA binding domain in RecQ family helicases. J. Mol. Biol. 2006, 358:1071-1080.
35. Ghosh A.K., et al. RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. J. Biol. Chem. 2012, 287:196-209.
36. Jin W., et al. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum. Genet. 2008, 123:643-653.
37. Werner S.R., et al. RECQL4-deficient cells are hypersensitive to oxidative stress/damage: insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochem. Biophys. Res. Commun. 2006, 345:403-409.
38. Xu X., et al. MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication. EMBO J. 2009, 28:3005-3014.
39. Im J.S., et al. Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:15628-15632.
40. Thangavel S., et al. Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation. Mol Cell. Biol. 2010, 30:1382-1396.
41. Kumata Y., et al. Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts. Biochim. Biophys. Acta 2007, 1773:556-564.
42. Luo X., Kraus W.L. On PAR with PARP: cellular stress signaling through poly(ADP-ribose) and PARP-1. Genes Dev. 2012, 26:417-432.
43. Singh D.K., et al. The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability. Nucleic Acids Res. 2012, 40:6632-6648.
44. von Kobbe C., et al. Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. J. Biol. Chem. 2002, 277:22035-22044.
45. de Souza-Pinto N.C., et al. p53 functions in the incorporation step in DNA base excision repair in mouse liver mitochondria. Oncogene 2004, 23:6559-6568.
46. Sahin E., et al. Telomere dysfunction induces metabolic and mitochondrial compromise. Nature 2011, 470:359-365.
47. von Zglinicki T., et al. Accumulation of single-strand breaks is the major cause of telomere shortening in human fibroblasts. Free Radic. Biol. Med. 2000, 28:64-74.
48. Kawanishi S., Oikawa S. Mechanism of telomere shortening by oxidative stress. Ann. N. Y. Acad. Sci. 2004, 1019:278-284.
49. Kurz D.J., et al. Chronic oxidative stress compromises telomere integrity and accelerates the onset of senescence in human endothelial cells. J. Cell Sci. 2004, 117:2417-2426.
50. Mather K.A., et al. Is telomere length a biomarker of aging? A review. J. Gerontol. A: Biol. Sci. Med. Sci. 2011, 66:202-213.
51. von Zglinicki T., Martin-Ruiz C.M. Telomeres as biomarkers for ageing and age-related diseases. Curr. Mol. Med. 2005, 5:197-203.
52. Singh D.K., et al. RecQ helicases in DNA double strand break repair and telomere maintenance. Mutat. Res. 2011, 736:15-24.
53. Mohaghegh P., et al. The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res. 2001, 29:2843-2849.
54. Coskun P., et al. A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim. Biophys. Acta 2012, 1820:553-564.
55. Jiang Y., et al. Proteomic analysis of mitochondria in Raji cells following exposure to radiation: implications for radiotherapy response. Protein Pept. Lett. 2009, 16:1350-1359.
56. Harman D. The biologic clock: the mitochondria?. J. Am. Geriatr. Soc. 1972, 20:145-147.
57. Passos J.F., von Zglinicki T. Mitochondria, telomeres and cell senescence. Exp. Gerontol. 2005, 40:466-472.
58. Ichikawa K., et al. Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases. Nihon Yakurigaku Zasshi 2002, 119:219-226. (article in Japanese).
59. Hoki Y., et al. Growth retardation and skin abnormalities of the Recql4-deficient mouse. Hum. Mol. Genet. 2003, 12:2293-2299.
60. Mann M.B., et al. Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Hum. Mol. Genet. 2005, 14:813-825.
61. Sharma S., et al. RECQL, a member of the RecQ family of DNA helicases, suppresses chromosomal instability. Mol. Cell. Biol. 2007, 27:1784-1794.
62. Lebel M., Leder P. A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:13097-13102.
63. Chester N., et al. Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev. 1998, 12:3382-3393.