Gene Symbol: Blm
Description: Bloom syndrome helicase
Alias: BLM, CG6920, DmBLM, DmBlm, DmKu70, Dmblm, Dmel\CG6920, Ku70, MUS309, Mus309, RecQ, blm, dBLM, dmblm, ku70, mus 309, mus309, bloom syndrome helicase, Blm-PA, Bloom's helicase, CG6920-PA, RecQ-like, bloom, bloom helicase, bloom syndrome helicase ortholog, drosophila Blm, genome stabilizer 1, gesta1, mutagen-sensitive 309
Species: fruit fly

Top Publications

  1. Boyd J, Golino M, Shaw K, Osgood C, Green M. Third-chromosome mutagen-sensitive mutants of Drosophila melanogaster. Genetics. 1981;97:607-23 pubmed
    ..Mutants from four of the complementation groups are associated with moderate to strong meiotic effects in females. Preliminary biochemical analyses have implicated seven of these loci in DNA metabolism. ..
  2. Johnson Schlitz D, Engels W. Template disruptions and failure of double Holliday junction dissolution during double-strand break repair in Drosophila BLM mutants. Proc Natl Acad Sci U S A. 2006;103:16840-5 pubmed
    ..We report an analysis of the Drosophila BLM gene, DmBlm, in the repair of double-strand breaks in the premeiotic germ line of Drosophila males...
  3. Wei D, Rong Y. A genetic screen for DNA double-strand break repair mutations in Drosophila. Genetics. 2007;177:63-77 pubmed
  4. Brodsky M, Sekelsky J, Tsang G, Hawley R, Rubin G. mus304 encodes a novel DNA damage checkpoint protein required during Drosophila development. Genes Dev. 2000;14:666-78 pubmed
    ..Similar mechanisms may account for the puzzling array of symptoms observed in humans with mutations in the ATM tumor suppressor gene. ..
  5. Min B, Weinert B, Rio D. Interplay between Drosophila Bloom's syndrome helicase and Ku autoantigen during nonhomologous end joining repair of P element-induced DNA breaks. Proc Natl Acad Sci U S A. 2004;101:8906-11 pubmed
    ..Genetic studies have demonstrated an interaction between the gene (mus309, for mutagen-sensitive) encoding the Drosophila Bloom's syndrome helicase homolog (DmBLM) and the Ku70 gene, which ..
  6. Laurencon A, Orme C, Peters H, Boulton C, Vladar E, Langley S, et al. A large-scale screen for mutagen-sensitive loci in Drosophila. Genetics. 2004;167:217-31 pubmed
    ..At least one allele of each new gene identified in this study is available at the Bloomington Stock Center. ..
  7. Sekelsky J, Burtis K, Hawley R. Damage control: the pleiotropy of DNA repair genes in Drosophila melanogaster. Genetics. 1998;148:1587-98 pubmed
  8. Kusano K, Berres M, Engels W. Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. Genetics. 1999;151:1027-39 pubmed
    ..We cloned a Drosophila melanogaster homolog of the RECQ helicase family, Dmblm (Drosophila melanogaster Bloom), which encodes a putative 1487-amino-acid protein...
  9. Kappeler M, Kranz E, Woolcock K, Georgiev O, Schaffner W. Drosophila bloom helicase maintains genome integrity by inhibiting recombination between divergent DNA sequences. Nucleic Acids Res. 2008;36:6907-17 pubmed publisher
    ..5%. Finally, we demonstrate that the suppression of homeologous SSA depends on the Bloom helicase (Blm), encoded by the Drosophila gene mus309...

More Information


  1. McVey M, Andersen S, Broze Y, Sekelsky J. Multiple functions of Drosophila BLM helicase in maintenance of genome stability. Genetics. 2007;176:1979-92 pubmed
    ..The Drosophila melanogaster ortholog of BLM, DmBlm, is encoded by mus309. Mutations in mus309 cause hypersensitivity to DNA-damaging agents, female sterility, and defects in repairing ..
  2. Plank J, Wu J, Hsieh T. Topoisomerase IIIalpha and Bloom's helicase can resolve a mobile double Holliday junction substrate through convergent branch migration. Proc Natl Acad Sci U S A. 2006;103:11118-23 pubmed
    ..Here, we show that Drosophila topoisomerase IIIalpha (Topo IIIalpha) and Blm (a homolog of Sgs1) are capable of resolving this substrate to non-cross-over products and that this activity is ..
  3. Gloor G, Moretti J, Mouyal J, Keeler K. Distinct P-element excision products in somatic and germline cells of Drosophila melanogaster. Genetics. 2000;155:1821-30 pubmed
    ..Enhanced expression of the Drosophila homologue of the Ku70 protein did not affect the structure of the somatic footprints...
  4. McVey M, Larocque J, Adams M, Sekelsky J. Formation of deletions during double-strand break repair in Drosophila DmBlm mutants occurs after strand invasion. Proc Natl Acad Sci U S A. 2004;101:15694-9 pubmed
    b>Bloom syndrome is a rare disorder associated with cancer predisposition and genomic instability and is caused by loss of the RecQ helicase BLM...
  5. Kusano K, Johnson Schlitz D, Engels W. Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. Science. 2001;291:2600-2 pubmed
    ..We show that Dmblm is identical to mus309, a locus originally identified in a mutagen-sensitivity screen...
  6. Andersen S, Bergstralh D, Kohl K, Larocque J, Moore C, Sekelsky J. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. Mol Cell. 2009;35:128-35 pubmed publisher
    ..Genetic and biochemical evidence described here and in related papers suggest that MUS312 and BTBD12 direct Holliday junction resolution by at least two distinct endonucleases in different recombination and repair contexts. ..
  7. Chen S, Wu C, Plank J, Hsieh T. Essential functions of C terminus of Drosophila Topoisomerase III? in double holliday junction dissolution. J Biol Chem. 2012;287:19346-53 pubmed publisher an essential component of the double Holliday junction (dHJ) dissolvasome complex in metazoans, along with Blm and Rmi1/2...
  8. Beall E, Rio D. Drosophila IRBP/Ku p70 corresponds to the mutagen-sensitive mus309 gene and is involved in P-element excision in vivo. Genes Dev. 1996;10:921-33 pubmed
    ..Our findings provide the first demonstration that a mutation in the IRBP gene affects double-strand DNA break repair and suggest that DNA repair functions are conserved between Drosophila and mammals. ..
  9. Adams M, McVey M, Sekelsky J. Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing. Science. 2003;299:265-7 pubmed
    ..The precise function of BLM remains unclear. Previous research suggested that Drosophila BLM functions in the repair of DNA double-strand breaks...
  10. Trowbridge K, McKim K, Brill S, Sekelsky J. Synthetic lethality of Drosophila in the absence of the MUS81 endonuclease and the DmBlm helicase is associated with elevated apoptosis. Genetics. 2007;176:1993-2001 pubmed
    ..mus81 and mms4 are synthetically lethal with null mutations in mus309, which encodes the ortholog of the Bloom Syndrome helicase. Synthetic lethality is associated with high levels of apoptosis in proliferating tissues...
  11. Kooistra R, Pastink A, Zonneveld J, Lohman P, Eeken J. The Drosophila melanogaster DmRAD54 gene plays a crucial role in double-strand break repair after P-element excision and acts synergistically with Ku70 in the repair of X-ray damage. Mol Cell Biol. 1999;19:6269-75 pubmed
    ..the relative contributions of recombinational repair and nonhomologous end joining in DSB repair, a DmRad54(-/-)/DmKu70(-/-) double mutant was generated...
  12. Song Y, He F, Xie G, Guo X, Xu Y, Chen Y, et al. CAF-1 is essential for Drosophila development and involved in the maintenance of epigenetic memory. Dev Biol. 2007;311:213-22 pubmed
    ..Together, our results establish that dCAF-1-p180 is an essential gene for Drosophila development and further underscore the importance of dCAF-1 in regulating gene expression and DNA repair in vivo. ..
  13. Wu L, Hickson I. Molecular biology. DNA ends ReQ-uire attention. Science. 2001;292:229-30 pubmed
  14. Hong S, Choi K. TCTP directly regulates ATM activity to control genome stability and organ development in Drosophila melanogaster. Nat Commun. 2013;4:2986 pubmed publisher
    ..Altogether, this study provides the first in vivo evidence for direct modulation of dATM activity by dTCTP in the control of genome stability and organ development. ..
  15. Beall E, Admon A, Rio D. A Drosophila protein homologous to the human p70 Ku autoimmune antigen interacts with the P transposable element inverted repeats. Proc Natl Acad Sci U S A. 1994;91:12681-5 pubmed
    ..In addition, Ku is the DNA binding subunit of the double-strand DNA-dependent protein kinase. Cytogenetic mapping indicates that the IRBP gene maps to chromosomal position 86E on the right arm of the third chromosome. ..
  16. Cohen S, Yacobi K, Segal D. Extrachromosomal circular DNA of tandemly repeated genomic sequences in Drosophila. Genome Res. 2003;13:1133-45 pubmed
    ..Mutations in the genes okra, mus309, and mei41 did not affect eccDNA under normal conditions or following mutagen treatment, implying that eccDNA ..
  17. Nicholas H, Brookfield J. The Drosophila melanogaster Ku70 coding sequence is wild-type in mus309 mutants. Genetica. 2002;114:293-6 pubmed
    Drosophila melanogaster mus309 mutations have been identified as being in the Ku70 gene, encoding one subunit of the DNA-dependent protein kinase...
  18. Henry R, Singh T, Kuo Y, Biester A, O Keefe A, Lee S, et al. Quantitative Measurement of Histone Tail Acetylation Reveals Stage-Specific Regulation and Response to Environmental Changes during Drosophila Development. Biochemistry. 2016;55:1663-72 pubmed publisher
  19. Mitonaka T, Muramatsu Y, Sugiyama S, Mizuno T, Nishida Y. Essential roles of myosin phosphatase in the maintenance of epithelial cell integrity of Drosophila imaginal disc cells. Dev Biol. 2007;309:78-86 pubmed
    ..The requirement of DMBS for the integrity of static epithelial cells in imaginal discs suggests that the regulation of Myosin II by DMBS has a role more general than its previously demonstrated functions in morphogenetic events. ..
  20. Chandra S, Pandey A, Chowdhuri D. MiRNA profiling provides insights on adverse effects of Cr(VI) in the midgut tissues of Drosophila melanogaster. J Hazard Mater. 2015;283:558-67 pubmed publisher
    ..DNA damage repair, oxidation-reduction processes, development and differentiation. Down-regulation of mus309 and mus312 under DNA repair, acon to oxidation-reduction and pyd to stress activated MAPK cascade respectively ..
  21. Bolterstein E, Rivero R, Marquez M, McVey M. The Drosophila Werner exonuclease participates in an exonuclease-independent response to replication stress. Genetics. 2014;197:643-52 pubmed publisher
    ..Mutations in the human RecQ helicases, WRN and BLM, cause Werner and Bloom syndromes, which are diseases characterized by genome instability and an increased risk of cancer...
  22. Ashburner M, Ball C, Blake J, Botstein D, Butler H, Cherry J, et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet. 2000;25:25-9 pubmed
  23. Andersen S, Kuo H, Savukoski D, Brodsky M, Sekelsky J. Three structure-selective endonucleases are essential in the absence of BLM helicase in Drosophila. PLoS Genet. 2011;7:e1002315 pubmed publisher
    ..The Bloom syndrome helicase, BLM, plays key roles in preventing mitotic crossover, either by blocking the formation of HJ ..
  24. Jacoby D, Wensink P. Yolk protein factor 1 is a Drosophila homolog of Ku, the DNA-binding subunit of a DNA-dependent protein kinase from humans. J Biol Chem. 1994;269:11484-91 pubmed
    ..In situ hybridization localizes the beta gene to position 34C on the left arm of chromosome 2. ..
  25. Do A, Brooks J, Le Neveu M, Larocque J. Double-strand break repair assays determine pathway choice and structure of gene conversion events in Drosophila melanogaster. G3 (Bethesda). 2014;4:425-32 pubmed publisher
    ..Additionally, HR between diverged sequences is suppressed in Drosophila, similar to levels reported in human cells. Junction analyses of rare NHEJ events reveal that canonical NHEJ is utilized in this system. ..
  26. Johnson Schlitz D, Flores C, Engels W. Multiple-pathway analysis of double-strand break repair mutations in Drosophila. PLoS Genet. 2007;3:e50 pubmed
  27. Garcia A, Salomon R, Witsell A, Liepkalns J, Calder R, Lee M, et al. Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. Genome Biol. 2011;12:R121 pubmed publisher
    ..These results suggest that Drosophila BLM suppresses error-prone alternative end-joining repair of DNA double-strand breaks that can result in genome ..
  28. Witsell A, Kane D, Rubin S, McVey M. Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila. Genetics. 2009;183:1187-93 pubmed publisher
    ..Here, we show that conducting excision screens in mus309 mutant flies that lack DmBlm, the Drosophila ortholog of the Bloom syndrome protein, increases the percentage and ..
  29. Weinert B, Rio D. DNA strand displacement, strand annealing and strand swapping by the Drosophila Bloom's syndrome helicase. Nucleic Acids Res. 2007;35:1367-76 pubmed
    Genetic analysis of the Drosophila Bloom's syndrome helicase homolog (mus309/DmBLM) indicates that DmBLM is required for the synthesis-dependent strand annealing (SDSA) pathway of homologous recombination...
  30. Chen S, Plank J, Willcox S, Griffith J, Hsieh T. Top3? is required during the convergent migration step of double Holliday junction dissolution. PLoS ONE. 2014;9:e83582 pubmed publisher
    Although Blm and Top3? are known to form a minimal dissolvasome that can uniquely undo a double Holliday junction structure, the details of the mechanism remain unknown...
  31. Kohl K, Jones C, Sekelsky J. Evolution of an MCM complex in flies that promotes meiotic crossovers by blocking BLM helicase. Science. 2012;338:1363-5 pubmed publisher
    ..Meiotic crossovers were reduced in Drosophila rec, mei-217, and mei-218 mutants; however, removal of the Bloom syndrome helicase (BLM) ortholog restored crossovers...
  32. Ertl H, Russo D, Srivastava N, Brooks J, Dao T, Larocque J. The Role of Blm Helicase in Homologous Recombination, Gene Conversion Tract Length, and Recombination Between Diverged Sequences in Drosophilamelanogaster. Genetics. 2017;207:923-933 pubmed publisher
    ..i>Drosophila melanogaster Blm (DmBlm) is the ortholog of Saccharomyces cerevisiae SGS1 and human BLM, and has been shown to suppress ..
  33. LaFave M, Andersen S, Stoffregen E, Holsclaw J, Kohl K, Overton L, et al. Sources and structures of mitotic crossovers that arise when BLM helicase is absent in Drosophila. Genetics. 2014;196:107-18 pubmed publisher
    The Bloom syndrome helicase, BLM, has numerous functions that prevent mitotic crossovers. We used unique features of Drosophila melanogaster to investigate origins and properties of mitotic crossovers that occur when BLM is absent...
  34. Sekelsky J, Brodsky M, Burtis K. DNA repair in Drosophila: insights from the Drosophila genome sequence. J Cell Biol. 2000;150:F31-6 pubmed
  35. Szabad J, Mathe E, Puro J. Horka, a dominant mutation of Drosophila, induces nondisjunction and, through paternal effect, chromosome loss and genetic mosaics. Genetics. 1995;139:1585-99 pubmed
    ..Horka is a convenient tool for the generation of gynandromorphs, autosome mosaics and for the study of gene expression in mosaics. ..
  36. Milan M, Clemente Ruiz M, Dekanty A, Muzzopappa M. Aneuploidy and tumorigenesis in Drosophila. Semin Cell Dev Biol. 2014;28:110-5 pubmed publisher
    ..Here we discuss the role of aneuploidy in tumorigenesis in light of the contribution of Drosophila epithelial cancer models and propose a stress-induced tumor-promoting role of aneuploidy. ..
  37. Kuo H, McMahan S, Rota C, Kohl K, Sekelsky J. Drosophila FANCM helicase prevents spontaneous mitotic crossovers generated by the MUS81 and SLX1 nucleases. Genetics. 2014;198:935-45 pubmed publisher
    ..Among these are the Bloom syndrome helicase BLM and the Fanconi anemia group M (FANCM) helicase...
  38. Chandra S, Khatoon R, Pandey A, Saini S, Vimal D, Singh P, et al. Dme-miR-314-3p modulation in Cr(VI) exposed Drosophila affects DNA damage repair by targeting mus309. J Hazard Mater. 2016;304:360-9 pubmed publisher
    ..0-20.0 μg/ml Cr(VI) for 24 and 48 h. mus309, a Drosophila homologue of human Bloom's syndrome and predicted as one of the potential targets of this miRNA, was ..
  39. Bretscher H, Fox D. Proliferation of Double-Strand Break-Resistant Polyploid Cells Requires Drosophila FANCD2. Dev Cell. 2016;37:444-57 pubmed publisher
    ..mitosis with acentric chromosomes, papillar cells require Fanconi anemia proteins FANCD2 and FANCI, as well as Blm helicase, but not canonical DDR signaling...
  40. Mishra M, Sharma A, Negi M, Dwivedi U, Chowdhuri D. Tracing the tracks of genotoxicity by trivalent and hexavalent chromium in Drosophila melanogaster. Mutat Res. 2011;722:44-51 pubmed publisher
    ..cells of larvae of Oregon R(+) and single mutants of pre- (mei-9, mus201 and mus210) and post- (mei-41, mus209 and mus309) replication repair pathways and also in double mutants of different combinations (pre-pre, pre-post and post-post ..
  41. Chiolo I, Minoda A, Colmenares S, Polyzos A, Costes S, Karpen G. Double-strand breaks in heterochromatin move outside of a dynamic HP1a domain to complete recombinational repair. Cell. 2011;144:732-44 pubmed publisher
    ..We propose that the spatial and temporal control of DSB repair in heterochromatin safeguards genome stability by preventing aberrant exchanges between repeats. ..
  42. Brough R, Wei D, Leulier S, Lord C, Rong Y, Ashworth A. Functional analysis of Drosophila melanogaster BRCA2 in DNA repair. DNA Repair (Amst). 2008;7:10-9 pubmed
  43. Portin P. mus309 mutation, defective in DNA double-strand break repair, affects intergenic but not intragenic meiotic recombination in Drosophila melanogaster. Genet Res. 2005;86:185-91 pubmed
    ..the hypomorphic DNA double-strand break repair, notably synthesis-dependent strand annealing, deficient mutation mus309 on the third chromosome of Drosophila melanogaster on intergenic and intragenic meiotic recombination in the X ..