Bloom syndrome protein
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is expressed in Bloom syndrome.[1]
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal protein may act to suppress inappropriate homologous recombination.
Interactions
Bloom syndrome protein has been shown to interact with CHEK1,[2] Replication protein A1,[3][4][5] Werner syndrome ATP-dependent helicase,[6] RAD51L3,[7] Ataxia telangiectasia mutated,[8][9] RAD51,[10] XRCC2,[7] Flap structure-specific endonuclease 1,[11] H2AFX,[2] TP53BP1,[2] P53,[2][12][13][14] TOP3A,[3][15][16][17] MLH1[8][16][18][19] and CHAF1A.[20]
References
- ^ Karow JK, Chakraverty RK, Hickson ID (January 1998). "The Bloom's syndrome gene product is a 3'-5' DNA helicase". J Biol Chem 272 (49): 30611–4. doi:10.1074/jbc.272.49.30611. PMID 9388193.
- ^ a b c d Sengupta, Sagar; Robles Ana I, Linke Steven P, Sinogeeva Natasha I, Zhang Ran, Pedeux Remy, Ward Irene M, Celeste Arkady, Nussenzweig André, Chen Junjie, Halazonetis Thanos D, Harris Curtis C (September 2004). "Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest". J. Cell Biol. (United States) 166 (6): 801–13. doi:10.1083/jcb.200405128. ISSN 0021-9525. PMC 2172115. PMID 15364958. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2172115.
- ^ a b Brosh, R M; Li J L, Kenny M K, Karow J K, Cooper M P, Kureekattil R P, Hickson I D, Bohr V A (August 2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. (UNITED STATES) 275 (31): 23500–8. doi:10.1074/jbc.M001557200. ISSN 0021-9258. PMID 10825162.
- ^ Opresko, Patricia L; von Kobbe Cayetano, Laine Jean-Philippe, Harrigan Jeanine, Hickson Ian D, Bohr Vilhelm A (October 2002). "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. (United States) 277 (43): 41110–9. doi:10.1074/jbc.M205396200. ISSN 0021-9258. PMID 12181313.
- ^ Moens, Peter B; Kolas Nadine K, Tarsounas Madalena, Marcon Edyta, Cohen Paula E, Spyropoulos Barbara (April 2002). "The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination". J. Cell. Sci. (England) 115 (Pt 8): 1611–22. ISSN 0021-9533. PMID 11950880.
- ^ von Kobbe, Cayetano; Karmakar Parimal, Dawut Lale, Opresko Patricia, Zeng Xianmin, Brosh Robert M, Hickson Ian D, Bohr Vilhelm A (June 2002). "Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. (United States) 277 (24): 22035–44. doi:10.1074/jbc.M200914200. ISSN 0021-9258. PMID 11919194.
- ^ a b Braybrooke, Jeremy P; Li Ji-Liang, Wu Leonard, Caple Fiona, Benson Fiona E, Hickson Ian D (November 2003). "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)". J. Biol. Chem. (United States) 278 (48): 48357–66. doi:10.1074/jbc.M308838200. ISSN 0021-9258. PMID 12975363.
- ^ a b Wang, Y; Cortez D, Yazdi P, Neff N, Elledge S J, Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. (UNITED STATES) 14 (8): 927–39. ISSN 0890-9369. PMC 316544. PMID 10783165. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=316544.
- ^ Beamish, Heather; Kedar Padmini, Kaneko Hideo, Chen Philip, Fukao Toshiyuki, Peng Cheng, Beresten Sergei, Gueven Nuri, Purdie David, Lees-Miller Susan, Ellis Nathan, Kondo Naomi, Lavin Martin F (August 2002). "Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM". J. Biol. Chem. (United States) 277 (34): 30515–23. doi:10.1074/jbc.M203801200. ISSN 0021-9258. PMID 12034743.
- ^ Wu, L; Davies S L, Levitt N C, Hickson I D (June 2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. (United States) 276 (22): 19375–81. doi:10.1074/jbc.M009471200. ISSN 0021-9258. PMID 11278509.
- ^ Sharma, Sudha; Sommers Joshua A, Wu Leonard, Bohr Vilhelm A, Hickson Ian D, Brosh Robert M (March 2004). "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. (United States) 279 (11): 9847–56. doi:10.1074/jbc.M309898200. ISSN 0021-9258. PMID 14688284.
- ^ Wang, X W; Tseng A, Ellis N A, Spillare E A, Linke S P, Robles A I, Seker H, Yang Q, Hu P, Beresten S, Bemmels N A, Garfield S, Harris C C (August 2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. (United States) 276 (35): 32948–55. doi:10.1074/jbc.M103298200. ISSN 0021-9258. PMID 11399766.
- ^ Garkavtsev, I V; Kley N, Grigorian I A, Gudkov A V (December 2001). "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control". Oncogene (England) 20 (57): 8276–80. doi:10.1038/sj.onc.1205120. ISSN 0950-9232. PMID 11781842.
- ^ Yang, Qin; Zhang Ran, Wang Xin Wei, Spillare Elisa A, Linke Steven P, Subramanian Deepa, Griffith Jack D, Li Ji Liang, Hickson Ian D, Shen Jiang Cheng, Loeb Lawrence A, Mazur Sharlyn J, Appella Ettore, Brosh Robert M, Karmakar Parimal, Bohr Vilhelm A, Harris Curtis C (August 2002). "The processing of Holliday junctions by BLM and WRN helicases is regulated by p53". J. Biol. Chem. (United States) 277 (35): 31980–7. doi:10.1074/jbc.M204111200. ISSN 0021-9258. PMID 12080066.
- ^ Wu, L; Davies S L, North P S, Goulaouic H, Riou J F, Turley H, Gatter K C, Hickson I D (March 2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. (UNITED STATES) 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. ISSN 0021-9258. PMID 10734115.
- ^ a b Freire, R; d'Adda Di Fagagna F, Wu L, Pedrazzi G, Stagljar I, Hickson I D, Jackson S P (August 2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIα". Nucleic Acids Res. (England) 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=55826.
- ^ Hu, P; Beresten S F, van Brabant A J, Ye T Z, Pandolfi P P, Johnson F B, Guarente L, Ellis N A (June 2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. (England) 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. ISSN 0964-6906. PMID 11406610.
- ^ Langland, G; Kordich J, Creaney J, Goss K H, Lillard-Wetherell K, Bebenek K, Kunkel T A, Groden J (August 2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. (United States) 276 (32): 30031–5. doi:10.1074/jbc.M009664200. ISSN 0021-9258. PMID 11325959.
- ^ 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 (November 2001). "Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1". Nucleic Acids Res. (England) 29 (21): 4378–86. doi:10.1093/nar/29.21.4378. PMC 60193. PMID 11691925. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=60193.
- ^ Jiao, Renjie; Bachrati Csanád Z, Pedrazzi Graziella, Kuster Patrick, Petkovic Maja, Li Ji-Liang, Egli Dieter, Hickson Ian D, Stagljar Igor (June 2004). "Physical and Functional Interaction between the Bloom's Syndrome Gene Product and the Largest Subunit of Chromatin Assembly Factor 1". Mol. Cell. Biol. (United States) 24 (11): 4710–9. doi:10.1128/MCB.24.11.4710-4719.2004. ISSN 0270-7306. PMC 416397. PMID 15143166. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=416397.
External links
Further reading
- Woo LL, Onel K, Ellis NA (2007). "The broken genome: genetic and pharmacologic approaches to breaking DNA". Ann. Med. 39 (3): 208–18. doi:10.1080/08035250601167136. PMID 17457718.
- McDaniel LD, Schultz RA (1992). "Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 7968–72. doi:10.1073/pnas.89.17.7968. PMC 49836. PMID 1518822. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=49836.
- Ellis NA, Groden J, Ye TZ et al. (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell 83 (4): 655–66. doi:10.1016/0092-8674(95)90105-1. PMID 7585968.
- German J, Roe AM, Leppert MF, Ellis NA (1994). "Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6669–73. doi:10.1073/pnas.91.14.6669. PMC 44264. PMID 8022833. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44264.
- Foucault F, Vaury C, Barakat A et al. (1998). "Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome". Hum. Mol. Genet. 6 (9): 1427–34. doi:10.1093/hmg/6.9.1427. PMID 9285778.
- Kaneko H, Orii KO, Matsui E et al. (1997). "BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal". Biochem. Biophys. Res. Commun. 240 (2): 348–53. doi:10.1006/bbrc.1997.7648. PMID 9388480.
- Wu L, Davies SL, North PS et al. (2000). "The Bloom's syndrome gene product interacts with topoisomerase III". J. Biol. Chem. 275 (13): 9636–44. doi:10.1074/jbc.275.13.9636. PMID 10734115.
- Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells". Proc. Natl. Acad. Sci. U.S.A. 97 (10): 5214–9. doi:10.1073/pnas.090525897. PMC 25808. PMID 10779560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=25808.
- Wang Y, Cortez D, Yazdi P et al. (2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 (8): 927–39. PMC 316544. PMID 10783165. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=316544.
- Karow JK, Constantinou A, Li JL et al. (2000). "The Bloom's syndrome gene product promotes branch migration of Holliday junctions". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6504–8. doi:10.1073/pnas.100448097. PMC 18638. PMID 10823897. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=18638.
- Brosh RM, Li JL, Kenny MK et al. (2000). "Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity". J. Biol. Chem. 275 (31): 23500–8. doi:10.1074/jbc.M001557200. PMID 10825162.
- Dutertre S, Ababou M, Onclercq R et al. (2000). "Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase". Oncogene 19 (23): 2731–8. doi:10.1038/sj.onc.1203595. PMID 10851073.
- Barakat A, Ababou M, Onclercq R et al. (2000). "Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome". Hum. Mutat. 15 (6): 584–5. doi:10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I. PMID 10862105.
- Brosh RM, Karow JK, White EJ et al. (2000). "Potent inhibition of Werner and Bloom helicases by DNA minor groove binding drugs". Nucleic Acids Res. 28 (12): 2420–30. doi:10.1093/nar/28.12.2420. PMC 102731. PMID 10871376. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=102731.
- Wu L, Davies SL, Levitt NC, Hickson ID (2001). "Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51". J. Biol. Chem. 276 (22): 19375–81. doi:10.1074/jbc.M009471200. PMID 11278509.
- Langland G, Kordich J, Creaney J et al. (2001). "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not required for DNA mismatch repair". J. Biol. Chem. 276 (32): 30031–5. doi:10.1074/jbc.M009664200. PMID 11325959.
- Wang XW, Tseng A, Ellis NA et al. (2001). "Functional interaction of p53 and BLM DNA helicase in apoptosis". J. Biol. Chem. 276 (35): 32948–55. doi:10.1074/jbc.M103298200. PMID 11399766.
- Hu P, Beresten SF, van Brabant AJ et al. (2001). "Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability". Hum. Mol. Genet. 10 (12): 1287–98. doi:10.1093/hmg/10.12.1287. PMID 11406610.
- Freire R, d'Adda Di Fagagna F, Wu L et al. (2001). "Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIα". Nucleic Acids Res. 29 (15): 3172–80. doi:10.1093/nar/29.15.3172. PMC 55826. PMID 11470874. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=55826.
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| Excision repair |
Base excision repair/ AP site ( DNA glycosylase, Uracil-DNA glycosylase, Poly ADP ribose polymerase) • Nucleotide excision repair/ ERCC ( XPA, XPB, XPC, XPD/ERCC2, XPE/DDB1, XPF/DDB1, XPG/ERCC5, ERCC1, RPA, RAD23A, RAD23B, Excinuclease)
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| Other forms of repair |
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| Other/ungrouped proteins |
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| Regulation |
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| Other/ungrouped |
8-Oxoguanine • Adaptive response • Meiotic recombination checkpoint • RecF pathway
DNA helicase: BLM · WRN
FANC proteins: core protein complex ( FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM), FANCD1, FANCD2, FANCI, FANCJ, FANCN
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see also DNA repair-deficiency disorder
B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)
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