Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BLM (Bloom)

Written1998-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2000-09Mounira Amor-Guéret
Institut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France
Updated2005-05Mounira Amor-Guéret
Institut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France

(Note : for Links provided by Atlas : click)


Other alias
LocusID (NCBI) 641
Atlas_Id 109
Location 15q26.1  [Link to chromosome band 15q26]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSTF1 (20q13.2) / BLM (15q26.1)RCCD1 (15q26.1) / BLM (15q26.1)


Transcription 4.4kb mRNA


Description 1417 amino acids; ATP binding in amino acid 689-696; DEAH box in 795-798; two putative nuclear localization signals in the C-term in 1334-1349
Expression accumulates to high levels in S phase of the cell cycle, persists in G2/M and sharply declines in G1. Hyperphoshorylated in mitosis
Localisation nuclear (PML nuclear bodies and nucleolus)
  • 3'-5'DNA helicase; probable role in DNA replication and double-strand break repair
  • Preferred substrates : G-quadruplex DNA, D-loops structures and X-junctions.
  • Recombinant protein promotes ATP-dependent branch migration of Hollyday junctions, effects, with topoisomerase III?, the resolution of a recombination intermediate containing a double Holliday junction with no flanking sequence exchanges, and possess a strand pairing activity.
  • Recombinant BLM possess a strand pairing activity.
  • Participates in a supercomplex of BRCA1 -associated proteins named BASC (BRCA1-Associated genome Surveillance Complex) containing ATM (defective in ataxia telangiectasia), NBS1 (defective in Nijmegen syndrome) and MRE11 (defective in ataxia-telangiectasia-like disorder), MLH1, MSH2 and MSH6, which are involved in human non-polyposis colorectal cancer, RAD50 and DNA replication factor C.
  • Participates in a complex named BRAFT (BLM, RPA, FA, Topoisomerase III) containing five of the Fanconia Anemia (FA) complementation group proteins (FANCA, FANCG, FANCC, FANCE and FANCF).
  • Interacts physically and/or functionally with p53, 53BP1, WRN, MLH1, RAD51, TRF2, ATR, the largest subunit of CAF-1, ligase IV, FEN1, Mus81, the monoubiquitinated FANCD2 isoform
  • Is Associated with telomeres and ribosomal DNA repeats.
  • Is phosphorylated in mitotic cells through the cdc2 pathway, and in response to DNA damaging agents or stalled replication forks.
  • Homology homologous to RecQ helicases, a subfamily of DExH box-containing helicases; in particular, similarity with the four known human members in the RecQ subfamily, human RecQL, human Wrn, the product of the Werner syndrome gene, and the human RecQL4, involved in the Rothmund-Thomson syndrome, and RecQL5 proteins


    Germinal five BLM mutations introducing amino acid substitutions and four BLM mutations introducing premature nonsense codons into the coding sequence have been described to date; one BLM mutation consisting in a 6 bp deletion accompanied by a 7 bp insertion at nucleic acid position 2281 is common in patients from Ashkenazi Jewish ancestry, leading to a truncated protein of 739 amino acids in length; two BLM mutations, 631delCAA and 1610insA were detected in japanese patients.

    Implicated in

    Entity Bloom syndrome
    Disease Bloom syndrome is a chromosome instability syndrome/cancer prone disease (at risk of numerous, early occurring cancers of various types)
    Prognosis 1/3 of patients are dead at mean age 24 yrs, and the mean age of the 2/3 remaining alive patients is 22 yrs
    Cytogenetics chromatid/chromosome breaks; triradial and quadriradial figures, highly elevated spontaneous sister chromatid exchange rate


    Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition.
    Ababou M, Dumaire V, Lécluse Y, Amor-Gué M
    Oncogene. 2002 ; 21 (13) : 2079-2088.
    PMID 11960380
    Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.
    Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Guéret M
    Human mutation. 2000 ; 15 (6) : 584-585.
    PMID 10862105
    A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint.
    Bayart E, Grigorieva O, Leibovitch S, Onclercq-Delic R, Amor-Guéret M
    Cancer research. 2004 ; 64 (24) : 8954-8959.
    PMID 15604258
    Regulation and localization of the Bloom syndrome protein in response to DNA damage.
    Bischof O, Kim SH, Irving J, Beresten S, Ellis NA, Campisi J
    The Journal of cell biology. 2001 ; 153 (2) : 367-380.
    PMID 11309417
    Dephosphorylation and subcellular compartment change of the mitotic Bloom's syndrome DNA helicase in response to ionizing radiation.
    Dutertre S, Sekhri R, Tintignac LA, Onclercq-Delic R, Chatton B, Jaulin C, Amor-Guéret M
    The Journal of biological chemistry. 2002 ; 277 (8) : 6280-6286.
    PMID 11741924
    Molecular genetics of Bloom's syndrome.
    Ellis NA, German J
    Human molecular genetics. 1996 ; 5 Spec No : 1457-1463.
    PMID 8875252
    The Bloom's syndrome gene product is homologous to RecQ helicases.
    Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J
    Cell. 1995 ; 83 (4) : 655-666.
    PMID 7585968
    Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
    Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M
    Human molecular genetics. 1997 ; 6 (9) : 1427-1434.
    PMID 9285778
    The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control.
    Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV
    Oncogene. 2001 ; 20 (57) : 8276-8280.
    PMID 11781842
    Increased error-prone non homologous DNA end-joining--a proposed mechanism of chromosomal instability in Bloom's syndrome.
    Gaymes TJ, North PS, Brady N, Hickson ID, Mufti GJ, Rassool FV
    Oncogene. 2002 ; 21 (16) : 2525-2533.
    PMID 11971187
    PML is critical for ND10 formation and recruits the PML-interacting protein daxx to this nuclear structure when modified by SUMO-1.
    Ishov AM, Sotnikov AG, Negorev D, Vladimirova OV, Neff N, Kamitani T, Yeh ET, Strauss JF 3rd, Maul GG
    The Journal of cell biology. 1999 ; 147 (2) : 221-234.
    PMID 10525530
    Physical and functional interaction between the Bloom's syndrome gene product and the largest subunit of chromatin assembly factor 1.
    Jiao R, Bachrati CZ, Pedrazzi G, Kuster P, Petkovic M, Li JL, Egli D, Hickson ID, Stagljar I
    Molecular and cellular biology. 2004 ; 24 (11) : 4710-4719.
    PMID 15143166
    Relatively common mutations of the Bloom syndrome gene in the Japanese population.
    Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Miki Y, Kondo N
    International journal of molecular medicine. 2004 ; 14 (3) : 439-442.
    PMID 15289897
    BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.
    Kaneko H, Orii KO, Matsui E, Shimozawa N, Fukao T, Matsumoto T, Shimamoto A, Furuichi Y, Hayakawa S, Kasahara K, Kondo N
    Biochemical and biophysical research communications. 1997 ; 240 (2) : 348-353.
    PMID 9388480
    The Bloom's syndrome gene product is a 3'-5' DNA helicase.
    Karow JK, Chakraverty RK, Hickson ID
    The Journal of biological chemistry. 1997 ; 272 (49) : 30611-30614.
    PMID 9388193
    The Bloom's syndrome gene product promotes branch migration of holliday junctions.
    Karow JK, Constantinou A, Li JL, West SC, Hickson ID
    Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (12) : 6504-6508.
    PMID 10823897
    Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
    Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A
    Genomics. 1998 ; 54 (3) : 443-452.
    PMID 9878247
    The BLM helicase is necessary for normal DNA double-strand break repair.
    Langland G, Elliott J, Li Y, Creaney J, Dixon K, Groden J
    Cancer research. 2002 ; 62 (10) : 2766-2770.
    PMID 12019152
    Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
    Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S
    American journal of medical genetics. 2000 ; 90 (3) : 223-228.
    PMID 10678659
    RecQ family members combine strand pairing and unwinding activities to catalyze strand exchange.
    Machwe A, Xiao L, Groden J, Matson SW, Orren DK
    The Journal of biological chemistry. 2005 ; 280 (24) : 23397-23407.
    PMID 15845538
    A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.
    Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W
    Molecular and cellular biology. 2003 ; 23 (10) : 3417-3426.
    PMID 12724401
    The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases.
    Mohaghegh P, Karow JK, Brosh Jr RM Jr, Bohr VA, Hickson ID
    Nucleic acids research. 2001 ; 29 (13) : 2843-2849.
    PMID 11433031
    Possible anti-recombinogenic role of Bloom's syndrome helicase in double-strand break processing.
    Onclercq-Delic R, Calsou P, Delteil C, Salles B, Papadopoulo D, Amor-Guéret M
    Nucleic acids research. 2003 ; 31 (21) : 6272-6282.
    PMID 14576316
    Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases.
    Opresko PL, von Kobbe C, Laine JP, Harrigan J, Hickson ID, Bohr VA
    The Journal of biological chemistry. 2002 ; 277 (43) : 41110-41119.
    PMID 12181313
    Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1.
    Pedrazzi G, Perrera C, Blaser H, Kuster P, Marra G, Davies SL, Ryu GH, Freire R, Hickson ID, Jiricny J, Stagljar I
    Nucleic acids research. 2001 ; 29 (21) : 4378-4386.
    PMID 11691925
    Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ.
    Puranam KL, Blackshear PJ
    The Journal of biological chemistry. 1994 ; 269 (47) : 29838-29845.
    PMID 7961977
    Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase.
    Schawalder J, Paric E, Neff NF
    BMC cell biology. 2003 ; 4 : page 15.
    PMID 14577841
    Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12.
    Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K
    Nucleic acids research. 1994 ; 22 (22) : 4566-4573.
    PMID 7527136
    Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest.
    Sengupta S, Robles AI, Linke SP, Sinogeeva NI, Zhang R, Pedeux R, Ward IM, Celeste A, Nussenzweig A, Chen J, Halazonetis TD, Harris CC
    The Journal of cell biology. 2004 ; 166 (6) : 801-813.
    PMID 15364958
    Genetic interactions between BLM and DNA ligase IV in human cells.
    So S, Adachi N, Lieber MR, Koyama H
    The Journal of biological chemistry. 2004 ; 279 (53) : 55433-55442.
    PMID 15509577
    The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.
    Stavropoulos DJ, Bradshaw PS, Li X, Pasic I, Truong K, Ikura M, Ungrin M, Meyn MS
    Human molecular genetics. 2002 ; 11 (25) : 3135-3144.
    PMID 12444098
    The Bloom's syndrome helicase unwinds G4 DNA.
    Sun H, Karow JK, Hickson ID, Maizels N
    The Journal of biological chemistry. 1998 ; 273 (42) : 27587-27592.
    PMID 9765292
    Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure.
    Wang W, Bambara RA
    The Journal of biological chemistry. 2005 ; 280 (7) : 5391-5399.
    PMID 15579905
    Functional interaction of p53 and BLM DNA helicase in apoptosis.
    Wang XW, Tseng A, Ellis NA, Spillare EA, Linke SP, Robles AI, Seker H, Yang Q, Hu P, Beresten S, Bemmels NA, Garfield S, Harris CC
    The Journal of biological chemistry. 2001 ; 276 (35) : 32948-32955.
    PMID 11399766
    BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
    Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J
    Genes & development. 2000 ; 14 (8) : 927-939.
    PMID 10783165
    Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51.
    Wu L, Davies SL, Levitt NC, Hickson ID
    The Journal of biological chemistry. 2001 ; 276 (22) : 19375-19381.
    PMID 11278509
    The processing of Holliday junctions by BLM and WRN helicases is regulated by p53.
    Yang Q, Zhang R, Wang XW, Spillare EA, Linke SP, Subramanian D, Griffith JD, Li JL, Hickson ID, Shen JC, Loeb LA, Mazur SJ, Appella E, Brosh RM Jr, Karmakar P, Bohr VA, Harris CC
    The Journal of biological chemistry. 2002 ; 277 (35) : 31980-31987.
    PMID 12080066
    Nuclear structure in normal and Bloom syndrome cells.
    Yankiwski V, Marciniak RA, Guarente L, Neff NF
    Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (10) : 5214-5219.
    PMID 10779560
    Positional cloning of the Werner's syndrome gene.
    Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD
    Science (New York, N.Y.). 1996 ; 272 (5259) : 258-262.
    PMID 8602509
    BLM helicase facilitates Mus81 endonuclease activity in human cells.
    Zhang R, Sengupta S, Yang Q, Linke SP, Yanaihara N, Bradsher J, Blais V, McGowan CH, Harris CC
    Cancer research. 2005 ; 65 (7) : 2526-2531.
    PMID 15805243
    Binding and melting of D-loops by the Bloom syndrome helicase.
    van Brabant AJ, Ye T, Sanz M, German III JL, Ellis NA, Holloman WK
    Biochemistry. 2000 ; 39 (47) : 14617-14625.
    PMID 11087418
    Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins.
    von Kobbe C, Karmakar P, Dawut L, Opresko P, Zeng X, Brosh RM Jr, Hickson ID, Bohr VA
    The Journal of biological chemistry. 2002 ; 277 (24) : 22035-22044.
    PMID 11919194


    This paper should be referenced as such :
    Amor-Guéret, M
    BLM (Bloom)
    Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):224-226.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :
    History of this paper:
    Jean-Loup Huret. BLM (Bloom). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):8-8.
    Amor-Guéret, M. BLM (Bloom). Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):188-189.

    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
      Chronic myelogenous leukaemia (CML)

    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
      RCCD1/BLM (15q26)
    t(15;20)(q26;q13) CSTF1/BLM

    Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
      Bloom syndrome

    External links

    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)641
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    canSAR (ICR) (select the gene name)
    REVIEW articlesautomatic search in PubMed
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    indexed on : Thu Oct 18 17:29:54 CEST 2018

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