Rothmund-Thomson syndrome helicase, RECQ4: On the crossroad between DNA replication and repair

DNA Repair

Volumn 9, Issue 3, 2010, Pages 325-330

  Liu, Yilun ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Baller Gerold syndrome; RECQ protein; Rothmund Thomson syndrome

Indexed keywords

HELICASE; RECQ4 HELICASE; UNCLASSIFIED DRUG;

BALLER GEROLD SYNDROME; CANCER SUSCEPTIBILITY; DNA CROSS LINKING; DNA REPAIR; DNA REPLICATION; ENZYME ACTIVITY; GENE MUTATION; HUMAN; MOLECULAR CLONING; NONHUMAN; PREMATURE AGING; PRIORITY JOURNAL; REVIEW; ROTHMUND THOMSON SYNDROME; SKELETON MALFORMATION; TUMOR SUPPRESSOR GENE; XENOPUS;

ANIMALS; DNA; DNA REPAIR; DNA REPLICATION; HUMANS; PROTEIN BINDING; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME;

EUKARYOTA; PROKARYOTA;

EID: 76749160296     PISSN: 15687864     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dnarep.2010.01.006     Document Type: Review

References (55)

1. Ellis N.A., Groden J., Ye T.Z., Straughen J., Lennon D.J., Ciocci S., Proytcheva M., and German J. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83 (1995) 655-666
2. 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., and Schellenberg G.D. Positional cloning of the Werner's syndrome gene. Science 272 (1996) 258-262
3. Kitao S., Ohsugi I., Ichikawa K., Goto M., Furuichi Y., and 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
4. Kitao S., Shimamoto A., and Furuichi Y. Molecular biology of Rothmund-Thomson syndrome. Chromosomal Instability and Aging (2002), Marcel Dekker, Inc., New York 223-244
5. Kitao S., Shimamoto A., Goto M., Miller R.W., Smithson W.A., Lindor N.M., and Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22 (1999) 82-84
6. von Rothmund A. Über Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration. Arch. Ophthalmol. 14 (1868) 159-182
7. Thomson M.S. A hitherto undescribed familial disease. Br. J. Dermatol. 35 (1923) 455-462
8. Van Maldergem L., Siitonen H.A., Jalkh N., Chouery E., De Roy M., Delague V., Muenke M., Jabs E.W., Cai J., Wang L.L., Plon S.E., Fourneau C., Kestilä M., Gillerot Y., Mégarbané A., and Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J. Med. Genet. 43 (2006) 148-152
9. Lewis M.E., Rosenbaum P.L., and Paes B.A. Baller-Gerold syndrome associated with congenital hydrocephalus. Am. J. Med. Genet. 40 (1991) 307-310
10. Porteous M.E., Cross I., and Burn J. VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?. Am. J. Med. Genet. 43 (1992) 1032-1034
11. Farrell S.A., Paes B.A., and Lewis M.E. Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. Am. J. Med. Genet. 50 (1994) 98-99
12. Rossbach H.C., Sutcliffe M.J., Haag M.M., Grana N.H., Rossi A.R., and Barbosa J.L. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. Am. J. Med. Genet. 61 (1996) 65-67
13. Cohen M.M., and Toriello Jr. H.B. Is there a Baller-Gerold syndrome?. Am. J. Med. Genet. 61 (1996) 63-64
14. Toriello H.V., Pearson D.M.V., and Sommer A. Verification of the existence of severe form of Fanconi pancytopenia. Proc. Greenwood Genet. Cent. 11 (1991) 142
15. Huson S.M., Rodgers C.S., Hall C.M., and Winter R.M. The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. J. Med. Genet. 27 (1990) 371-375
16. Gripp K.W., Stolle C.A., Celle L., McDonald-McGinn D.M., Whitaker L.A., and Zackai E.H. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Am. J. Med. Genet. 82 (1999) 170-176
17. Seto M.L., Lee S.J., Sze R.W., and Cunningham M.L. Another TWIST on Baller-Gerold syndrome. Am. J. Med. Genet. 104 (2001) 323-330
18. Mégarbané A., Melki I., Souraty N., Gerbaka J., El Ghouzzi V., Bonaventure J., Mornand A., and Loiselet J. Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin. Dysmorphol. 9 (2000) 303-305
19. Jam K., Fox M., and Crandall B.F. RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia. Teratology 60 (1999) 37-38
20. Kant S.G., Baraitser M., Milla P.J., and Winter R.M. Rapadilino syndrome-a non-Finnish case. Clin. Dysmorphol. 7 (1998) 135-138
21. Siitonen H.A., Kopra O., Kääriäinen H., Haravuori H., Winter R.M., Säämänen A.M., Peltonen L., and Kestilä M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum. Mol. Genet. 12 (2003) 2837-2844
22. Siitonen H.A., 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 S.E., Riedl S., Sarkar A., Vargas F.R., Verloes A., Wang L.L., Kääriäinen H., and Kestilä M. The mutation spectrum in RECQL4 diseases. Eur. J. Hum. Genet. 17 (2009) 151-158
23. Larizza L., Magnani I., and Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 232 (2006) 107-120
24. Burks L.M., Yin J., and Plon S.E. Nuclear import and retention domains in the amino terminus of RECQL4. Gene 391 (2007) 26-38
25. Ichikawa K., Noda T., and Furuichi Y. 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. Nippon Yakurigaku Zasshi 119 (2002) 219-226
26. Mann M.B., Hodges C.A., Barnes E., Vogel H., Hassold T.J., and Luo G. Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Hum. Mol. Genet. 14 (2005) 813-825
27. Hoki Y., Araki R., Fujimori A., Ohhata T., Koseki H., Fukumua R., Nakamura M., Takahashi H., Noda Y., Kito S., and Abe M. Growth retardation and skin abnormalities of the Recql4-deficient mouse. Hum. Mol. Genet. 12 (2003) 2293-2299
28. Yin J., Kwon Y.T., Varshavsky A., and Wang W. 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. 13 2004 (2004) 2421-2430
29. Macris M.A., Krejci L., Bussen W., Shimamoto A., and Sung P. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA Repair 5 (2006) 172-180
30. Janscak P., Garcia P.L., Hamburger F., Makuta Y., Shiraishi K., Imai Y., Ikeda H., and Bickle T.A. Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. J. Mol. Biol. 330 (2003) 29-42
31. Lee J.W., Kusumoto R., Doherty K.M., Lin G.X., Zeng W., Cheng W.H., von Kobbe C., Brosh Jr. R.M., Hu J.S., and Bohr V.A. Modulation of Werner syndrome protein function by a single mutation in the conserved RecQ domain. J. Biol. Chem. 280 (2005) 39627-39636
32. Xu X., and Liu Y. Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein RECQ4. EMBO J. 28 (2009) 568-577
33. Liu Y., and West S.C. More complexity to the Bloom's syndrome complex. Genes Dev. 22 (2008) 2737-2742
34. Quarrell O.W., Maltby E.L., and Harrison C.J. Baller Gerold syndrome and Fanconi anaemia. Am. J. Med. Genet. 75 (1998) 228-229
35. Smith P.J., and Paterson M.C. Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients. Mutat. Res. 94 (1982) 213-228
36. Varughese M., Leavey P., Smith P., Sneath R., Breatnach F., and O'Meara A. Osteogenic sarcoma and Rothmund Thomson syndrome. J. Cancer Res. Clin. Oncol. 118 (1992) 389-390
37. Shinya A., Nishigor C., Moriwaki S., Takebe H., Kubota M., Ogino A., and Imamura S. A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. Arch. Dermatol. 129 (1993) 332-336
38. Prache-de-Carrere B., Teillac-Hamel D., Capesius C., Castelneau J.P., Robert C., Fraitag S., and de Prost Y. Rothmund-Thomson syndrome with reduced DNA repair capacity. Ann. Dermatol. Venereol. 123 (1996) 395-397
39. Kerr B., Ashcroft G.S., Scott D., Horan M.A., Ferguson M.W., and Donnai D. Rothmund-Thomson syndrome: two case reports show heterogenous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. J. Med. Genet. 33 (1996) 928-934
40. Vasseur F., Delapote E., Zabot M.T., Sturque M.N., Barrut D., Savary J.B., Thomas L., and Thomas P. Excision repair defect in Rothmund-Thomson syndrome. Acta Derm. Venereol. 79 (1999) 150-152
41. Jin W., Liu H., Zhang Y., Otta S.K., Plon S.E., and Wang L.L. Sensitivity of RECQL4-deicient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum. Genet. 123 (2008) 643-653
42. Petkovic M., Dietschy T., Freire R., Jiao R., and 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. J. Cell Sci. 118 (2005) 4261-4269
43. Fan W., and 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. 283 (2008) 29037-29044
44. Schurman S.H., Hedayati M., Wang Z., Singh D.K., Speina E., Zhang Y., Becker K., Macris M., Sung P., Wilson 3rd D.M., Croteau D.L., and Bohr V.A. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Hum. Mol. Genet. 18 (2009) 3470-3483
45. Sangrithi M.N., Bernal J.A., Madine M., Philpott A., Lee J., Dunphy W.G., and Venkitaraman A.R. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell 121 (2005) 887-898
46. Matsuno K., Kumano M., Kubota Y., Hashimoto Y., and Takisawa H. The N-terminal nocatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication. Mol. Cell Biol. 26 (2006) 4843-4852
47. Wu J., Capp C., Feng L., and Hsieh T.S. Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. Dev. Biol. 323 (2008) 130-142
48. Ge X.Q., Jackson D.A., and Blow J.J. Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress. Genes Dev. 21 (2007) 3331-3341
49. Ibarra A., Schwob E., and Méndez J. Excess MCM proteins protect human cells from replicative stress by licensing backup origins of replication. Proc. Natl. Acad. Sci. U.S.A. 105 (2008) 8956-8961
50. Blow J.J., and Tanaka T.U. The chromosome cycle: coordinating replication and segregation. Second in the cycles review series. EMBO Rep. 6 (2005) 1028-1034
51. Xu X., Rochette P.J., Feyissa E.A., Su T.V., and Liu Y. MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication. EMBO J. (2009) 235 10.1038/emboj.2009.235
52. Varshavsky A. Discovery of cellular regulation by protein degradation. J. Biol. Chem. 283 (2008) 34469-34489
53. Kawabe T., Tsuyama N., Kitao S., Nishikawa K., Shimamoto A., Shiratori M., Matsumoto T., Anno K., Sato T., Mitsui Y., Seki M., Enomoto T., Goto M., Ellis N.A., Ide T., Furuichi Y., and Sugimoto M. Differential regulation of human RecQ family helicases in cell transformation and cell cycle. Oncogene 19 (2000) 4764-4772
54. Rao H., Uhlmann F., Nasmyth K., and Varshavsky A. Degradation of a cohesin subunit by the N-end rule pathway is essential for chromosome stability. Nature 410 (2001) 955-959
55. Kamimura Y., Masumoto H., Sugino A., and Araki H. Sld2, which interacts with Dpb11 in Saccharomyces cerevisiae, is required for chromosomal DNA replication. Mol. Cell Biol. 10 (1998) 6102-6109