The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability

BMC Cell Biology

Volumn 2, Issue , 2001, Pages

  Yankiwski, Victor ^a,b   Noonan, James P ^a,c   Neff, Norma F ^a  

^a NEW YORK BLOOD CENTER   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA TOPOISOMERASE; HELICASE;

AMINO TERMINAL SEQUENCE; ARTICLE; BLOOM SYNDROME; CANCER SUSCEPTIBILITY; CARBOXY TERMINAL SEQUENCE; CELL NUCLEUS INCLUSION BODY; CHROMOSOME ABERRATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE DELETION; GENETIC STABILITY; GENOME ANALYSIS; HUMAN; HUMAN CELL; NUCLEOLUS; PROMYELOCYTIC LEUKEMIA; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SISTER CHROMATID EXCHANGE; SOMATIC MUTATION;

EID: 2342661679     PISSN: 14712121     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2121-2-11     Document Type: Article

References (44)

1. German J: Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine 1993, 72:393-406
2. German J, Ellis NA: Bloom syndrome. In: The Genetic Basis of Human Cancer (Edited by Vogelstein B, Kinzler KW) New York, McGraw-Hill 1998301-315
3. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon D, Ciocci S, Proytcheva M, German J: The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995, 83:655-666
4. Chester N, Kuo F, Kozak C, O'Hara CD, Leder P: Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom syndrome gene. Genes Dev 1998, 12:3382-3392
5. Luo G, Santoro IM, McDaniel LD, Nishijima I, Mills M, Youssoufian H, Vogel H, Schultz RA, Bradley A: Cancer predisposition caused by elevated mitotic recombination in bloom mice. Nat Genet 2000, 26:424-429
6. Liao S, Graham J, Yan H: The function of xenopus Bloom's syndrome protein homolog (xBLM) in DNA replication. Genes Dev 2000, 14:2570-2575
7. The C. elegans Sequencing Consortium: Genome sequence of the nematode C. elegans: a platform for investigating biology. Science 1998, 282:2012-2018
8. Kusano K, Berres ME, Engels WR: Evolution of the RECQ family of helicase: A Drosophila homolog, Dmbim, is similar to the human Bloom syndrome gene. Genetics 1999, 151:1027-1039
9. Yamagata K, Kato J, Shimamoto A, Goto M, Furuichi Y, Ikeda H: Bloom's and Werner's syndrome genes suppress hyper-recombination in yeast sgs1 mutant: implication for genomic instability in human diseases. Proc Natl Acad Sci. USA 1998, 95:8733-8738
10. Neff NF, Ellis NA, 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. Mol Biol Cell 1999, 10::665-676
11. Puranam KL, Blackshear PJ: Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J Biol Chem 1994, 269:29838-29845
12. 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 1998, 54:443-452
13. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, et al: Positional cloning of the Werner's syndrome gene. Science 1996, 272:258-262
14. Oshima J: The Werner syndrome protein: an update. Bioessays 2000, 22:894-901
15. Shen JC, Loeb LA: The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases. Trends Genet 2000, 16:213-220
16. Kitao S, Shimamoto A, Goto M, Miller RA, Smithson WA, Lindor NM, Furuichi Y: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Gen 1999, 22:82-84
17. Sun H, Karow JK, Hickson ID, Maizels N: The Bloom's syndrome helicase unwinds G4 DNA. J Biol Chem 1998, 273:27587-27592
18. Karow JK, Constantinou A, Li JL, West SC, Hickson ID: The Bloom's syndrome gene product promotes branch migration of holliday junctions. Proc Natl Acad Sci USA 2000, 97:6504-6508
19. van Brabant AJ, Ye TZ, Sanz M, German J, Ellis NA, Holloman WK: Binding and melting of D-loops by the Bloom syndrome helicase. Biochemistry 2000, 39:14617-14625
20. Yankiwski V, Marciniak R, Guarente L, Neff NF: Nuclear structure in normal and Bloom syndrome cells. Proc Natl Acad Sci USA 2000, 97:5214-5219
21. Ishov AM, Sotnikov AG, Negorev D, Vladimirova OV, Neff NF, Kamitani T, Yeh ETH, Strauss JF, Maul GG: PML is critical for ND10 formation and recruits the PML-interacting protein Daxx to this nuclear structure when modified by SUMO-1. J. Cell. Biol. 1999, 147:221-233
22. Zhong S, Hu P, Ye TZ, Stan R, Ellis NA, Pandolfi PP: A role for PML and the nuclear body in genomic stability. Oncogene 1999, 18:7941-7947
23. Hodges M, Tissot C, Howe K, Grimwade D, Freemont P: Structure, organization, and dynamics of promyelocytic leukemia protein nuclear bodies. Am. J. Hum. Genet. 1998, 63:297-304
24. Quignon F, De Bels F, Koken M, Feunteun J, Ameisen JC, de Th H: PML induces a novel caspase-independent death process. Nat. Genet. 1998, 20:259-265
25. Wang ZG, Ruggero D, Ronchetti S, Zhong S, Gaboli M, Rivi R, Pandolfi PP: PML is essential for multiple apoptotic pathways. Nat. Genet. 1998, 20:266-272
26. Gharibyan V, Youssoufian H: Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Wemer's syndrome helicase. Mol Carcinog 1999, 26:261-273
27. Dutertre S, Ababou M, Onclercq R, Delic J, Chatton B, Jaulin C, Amor-Gueret M: Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase. Oncogene 2000, 19:2731-2738
28. Chalfie M, Tu Y, Euskirchen G, Ward WW, Prasher DC: Green fluorescent protein as a marker for gene expression. Science 1994, 263:802-805
29. Peng S, Sommerfelt MA, Berta G, Berry AK, Kirk KL, Hunter E, Sorscher EJ: Rapid purification of recombinant baculo virus using fluorescence-activated cell sorting. BioTech. 1993, 14:274-277
30. Kaneko H, Orii KO, Matsui E, Shimozawa N, Fukao T, Matsumoto T, Shimamoto A, Furuichi Y, Hayakawa S, Kasahara K, Kondo K: BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Biochem. Biophys. Res. Comm. 1997, 240:348-353
31. Karow JK, Newman RH, Freemont PS, Hickson ID: Oligomeric ring structure of the Bloom's syndrome helicase. Curr Biol 1999, 9:597-600
32. Gossen M, Freundlieb S, Bender G, Muller G, Hillen W, Bujard H: Transcriptional activation by tetracyclines in mammalian cells. Science 1995, 268:1766-1769
33. Johnson FB, Lombard DB, Neff NF, Mastrangelo M, Dewolf W, Ellis NA, Marciniak R, Yin Y, Jaenisch R, Guarente L: Association of the Bloom syndrome protein with topoisomerase IIIa in somatic and meiotic cells. Can. Res. 2000, 60:1162-1167
34. Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID: The Bloom's syndrome gene product interacts with topoisomerase III. J Biol Chem 2000, 275:9636-9644
35. Wolf G, Pieper R, Obe G: Chromosomal alterations in peripheral lymphocytes of female cabin attendants. Int J Radiat Biol 1999, 75:829-836
36. Ptashne M: How eukaryotic transcriptional activators work. Nature 1988, 335:683-689
37. He Z, Brinton BT, Greenblatt J, Hassell JA, Ingles CJ: The transcription protein VP16 and GAL4 bind replication factor A. Cell 1993, 73:1223-1232
38. Brosh RM, Li JL, Kenny MK, Karow JK, Cooper MP, Kureekattil RP, Hickson ID, Bohr VA: Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. J Biol Chem 2000, 275:23500-23508
39. Kingston RE, Bunker CA, Imbalzano AN: Repression and activation by multi-protein complexes that alter chromatin structure. Genes Dev. 1996, 10:905-920
40. Therman E, Otto PG, Shahidi NT: Mitotic recombination and segregation of satellites in Bloom syndrome. Chromosoma 1981, 82:627-636
41. Liu Z, Macias MJ, Bottomley MJ, Stier G, Linge JP, Nilges M, Bork P, Sattler M: The three-dimensional structure of the HRDC domain and implications for the Wemer and Bloom syndrome proteins. Structure Fold Des 1999, 7:1557-1566
42. Wang Y, Cortez D, Yazdi P, Neff NF, Elledge SJ, Qin J: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000, 14:927-939
43. Courcelle J, Hanawalt PC: RecQ and RecJ process blocked replication forks prior to the resumption of replication in UV-irradiated Escherichia coli. Mol Gen Genet 1999, 262:543-551
44. Myung K, Datta A, Chen C, Kolodner RD: SGS1, the Saccharomyces cerevisiae homologue of BLM and WRN, suppresses genome instability and homeologous recombination. Nat Genet 2001, 27:113-116