.. _BLM: BLM ^^^ .. contents:: :local: General Information ******************* :Full gene name: Bloom syndrome, RecQ helicase-like :Entrez Gene ID: 641 :Location: 15q26.1 :Synonyms: RECQ2, RECQL2, RECQL3, BS :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+------------+ | SNP | Distance (bp) | Direction | +===========+===============+============+ | rs8042680 | 162651 | downstream | +-----------+---------------+------------+ .. _BLM Gene summary: NCBI Summary ************ 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 recombination. [provided by RefSeq, Jul 2008] .. _OMIM ID 604610 : http://omim.org/entry/604610 .. _BLM OMIM Text: OMIM **** :OMIM ID: `OMIM ID 604610 `_ **Allelic Variants (Selected Examples)** .0001 BLOOM SYNDROME In 4 ostensibly unrelated persons of Jewish ancestry with Bloom syndrome (210900), Ellis et al. (1995) found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. (1995) concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor. Identification of the mutation by a PCR test was now possible for screening for carriers among Ashkenazim. Straughen et al. (1998) described a rapid method for detecting the 6-bp deletion/7-bp insertion, a predominant Ashkenazi Jewish mutation in Bloom syndrome. They commented that in the Bloom syndrome registry, one or both parents of 52 of the 168 registered persons are Ashkenazi Jews. Using a convenient PCR assay, Ellis et al. (1998) found the 6-bp del/7-bp ins mutation, blm(Ash), on 58 of 60 chromosomes transmitted by Ashkenazi parents to persons with Bloom syndrome. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom they examined, blm(Ash) was identified in only 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador. These data, along with haplotype analyses, showed that blm(Ash) was independently established through a founder effect in Ashkenazi Jews and in immigrants to formerly Spanish colonies. This striking observation underscored the complexity of Jewish history and demonstrated the importance of migration and genetic drift in the formation of human populations. In a study of the frequency of the BLM 6-bp del/7-bp ins mutation in a group of Ashkenazi Jews, unselected for personal or family history of Bloom syndrome, Oddoux et al. (1999) found the mutation in 5 of 1,155 individuals, yielding a frequency of 1/231 (95% CI, 1/123-1/1,848). The low frequency is consistent with an absence of heterozygote advantage for carriers of 1 copy of the mutant allele. The frequency of heterozygotes for other autosomal recessive conditions within their panel had been validated in other studies, suggesting that the test panel was representative of the Ashkenazi Jewish population. Those frequencies were Tay-Sachs disease, 1/28; cystic fibrosis, 1/25; Gaucher disease, 1/15; BRCA2, 6174delT, 1/106; Canavan disease, 1/41; and Fanconi anemia complementation group C, 1/116. To determine whether carriers of BLM mutations are at increased risk of colorectal cancer, Gruber et al. (2002) genotyped 1,244 cases of colorectal cancer and 1,839 controls, both of Ashkenazi Jewish ancestry, to estimate the relative risk of colorectal cancer among carriers of the BLM(Ash) founder mutation. Ashkenazi Jews with colorectal cancer were more than twice as likely to carry the BLM(Ash) mutation than Ashkenazi Jewish controls without colorectal cancer (odds ratio = 2.45, 95% CI 1.3 to 4.8; P = 0.0065). Gruber et al. (2002) verified that the APC I1307K mutation (611731.0029) did not confound their results. .0002 BLOOM SYNDROME In a Japanese patient with Bloom syndrome (210900), Ellis et al. (1995) found homozygosity for a deletion of CAA at nucleotide position 631-633, resulting in a stop codon at amino acid position 186. .0003 BLOOM SYNDROME In an Italian patient (BSR92) with Bloom syndrome (210900), German et al. (2007) identified homozygosity for a large deletion in exons 11 and 12 in the RECQL3 gene (2308-953_2555+4719del6126), causing a frameshift (ile770fs). (German and Ellis (2001) noted that the mutation in patient BSR92 was assigned incorrectly by Ellis et al. (1995). Ellis et al. (1995) had reported the patient to be homozygous for a 2596T-C transition resulting in an ile841-to-thr substitution. Table 1 in their article had erroneously stated that the change occurred at position 843.) .0004 BLOOM SYNDROME In a patient with Bloom syndrome (210900), Foucault et al. (1997) identified compound heterozygosity for a 3181G-T transversion in the RECQL3 gene resulting in a cys1036-to-phe (C1036F) substitution in the C-terminal region of the peptide and an unidentified mutation affecting expression of the RECQL3 gene. The patient was initially believed to be homozygous for the C1036F mutation, but SSCP analysis, direct sequencing of RT-PCR products, and EcoRI digestion using a restriction site created by the mutation showed that the mutation was not present in low SCE cells from the patient. No EcoRI digestion was observed on paternal PCR products. Partial EcoRI digestion was seen with PCR products from maternal and patient DNA and from high- and low-SCE cells from the patient, and direct sequencing confirmed the presence of both a wildtype and mutated sequence at nucleotide 3181 in the high- and low-SCE cell lines, indicating heterozygosity for the mutation. Foucault et al. (1997) concluded that somatic intragenic recombination resulted in cells that had an untranscribed allele carrying the 2 parental RECQL3 mutations and a wildtype allele which allowed reversion to the low-SCE phenotype. .. _BLM Phenotype: NCBI Phenotypes *************** * Gene Reviews * GTR * Bloom syndrome * OMIM .. _BLM GO Term: Gene Ontology ************* * DNA strand annealing activity * chromosome organization * positive regulation of alpha-beta T cell proliferation * cytoplasm * double-strand break repair via homologous recombination * negative regulation of mitotic recombination * replication fork processing * DNA rewinding * helicase activity * PML body * pronucleus * protein binding * G2 phase of mitotic cell cycle * nuclear matrix * ATP-dependent 3'-5' DNA helicase activity * replication fork * positive regulation of transcription, DNA-dependent * DNA strand renaturation * G2/M transition DNA damage checkpoint * four-way junction helicase activity * DNA repair * p53 binding * ATPase activity * ATP binding * alpha-beta T cell differentiation * bubble DNA binding * negative regulation of cell division * ATP-dependent DNA helicase activity * lateral element * ATP catabolic process * nucleus * response to DNA damage stimulus * chromosome, telomeric region * regulation of binding * regulation of cyclin-dependent protein kinase activity * nucleolus * negative regulation of DNA recombination * response to X-ray * G-quadruplex DNA binding * replication fork protection * single-stranded DNA binding * male germ cell nucleus * protein oligomerization * ATP-dependent helicase activity * DNA recombination .. _BLM Pathway: KEGG Pathways ************* * `Homologous recombination `_ * `Fanconi anemia pathway `_ .. _BLM GeneRIF: GeneRIFs ******** * TEP1, TOPOIIalpha, and HSP90 interact directly with BLM in vitro and modulate its helicase activity on telomere-like DNA substrates but not on non-telomeric substrates. [`PMID 19329795`_] * human BLM helicase, a member of the RecQ family, stimulates the nucleolytic activity of human exonuclease 1 (hExo1), a 5'-->3' double-stranded DNA exonuclease. [`PMID 18971343`_] * Affinity Capture-Western [`PMID 18971343`_] * a quantitative model for the translocation of a monomeric form of BLM along ssDNA is discussed. [`PMID 20211839`_] * Observational study of gene-disease association. (HuGE Navigator) [`PMID 20800603`_] * Our results directly implicate BLM in limiting the lethality associated with RAD51 deficiency through the processing of anaphase bridges resulting from the RAD51 defect. [`PMID 20215422`_] * BLM is stably associated with TOP3A and RMI1 protein. [`PMID 17728255`_] * Affinity Capture-MS [`PMID 17500065`_] * Individuals carrying genetic variants of the BLM-TOP3A-RMI1 complex have an increased risk of acute myeloid leukemia/myelodysplatic syndromes, malignant melanoma, bladder and breast cancer. [`PMID 19432957`_] * These results indicate that full-length BLM may require additional factors to unwind nucleosomal DNA in vivo, and that RPA is, on its own, unable to perform this auxiliary function. [`PMID 19935873`_] * Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. [`PMID 21712816`_] * The presence of widespread founder mutations in persons with Bloom syndrome points to population genetic processes that repeatedly and pervasively generate mutations that recur in unrelated persons. [`PMID 17407155`_] * Meta-analysis of gene-disease association. (HuGE Navigator) [`PMID 20813000`_] * NHEJ (non-homologous DNA end joining) activation mediates BLM dissociation from DNA, whereas, under conditions where homologous recombination is favored, e.g. at the replication fork, BLM exhibits an anti-recombinogenic role [`PMID 14576316`_] * Affinity Capture-MS [`PMID 16620772`_] * if a DNA oligomer complementary to one strand of the DNA substrate to be unwound is added during the helicase reaction, both WRN and BLM unwinding is enhanced, presumably by preventing protein-mediated re-annealing [`PMID 16412221`_] * These studies identify BLM as a new substrate for degradation by the adenovirus E1b55K/E4orf6 complex. [`PMID 21123383`_] * The results show that the BLM core consisting of solely the two RecA domains and the ZnBD is capable of performing a multitude of mechanochemical activities utilized in DNA repair. [`PMID 22253018`_] * BLM helicase is a new substrate for cdc2, which may have potential physiological implications for the role of BLM in mitosis. [`PMID 16880735`_] * BLM protein expression may play an important role in the development of hematopoietic tumor cells [`PMID 18278455`_] * SCE in the fancc/blm mutant was similar to that in blm cells, indicating functional linkage between FANCC and BLM [`PMID 15616572`_] * Co-expressing sgs1 truncations of up to 900 residues, lacking all known functional domains of Sgs1, suppressed the hydroxyurea sensitivity of BLM-overexpressing cells, suggesting a functional relationship between Sgs1 and BLM. [`PMID 21111748`_] * Dosage Rescue [`PMID 21111748`_] * Dosage Rescue [`PMID 21111748`_] * binds human mismatch repair protein MLH1; nuclear localization [`PMID 11691925`_] * MLH1 interacts with BLM. [`PMID 11691925`_] * Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype [`PMID 11532193`_] * BLM helicase deficiency results in genomic instability and cancer. [`PMID 17457718`_] * Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [`PMID 19237606`_] * BLM interacts with Top3A (Topo III-alpha). [`PMID 15775963`_] * FANCJ catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress. [`PMID 21240188`_] * Affinity Capture-Luminescence; Affinity Capture-Western; Reconstituted Complex [`PMID 21240188`_] * Affinity Capture-MS [`PMID 20360068`_] * Affinity Capture-MS [`PMID 20360068`_] * Affinity Capture-MS [`PMID 20360068`_] * recombinant p53 binds to BLM and WRN helicases and attenuates their ability to unwind synthetic Holliday junctions in vitro [`PMID 12080066`_] * BLM interacts with p53. [`PMID 12080066`_] * We report here four BLM gene mutations, three of which have not been described before. Three are frameshift mutations, and the fourth is a nonsense mutation. All introduce a stop codon, and may be considered to have deleterious biological effect. [`PMID 18471088`_] * BLM co-operates with RAD51 paralogs during the late stages of homologous recombination processes that serve to restore productive DNA replication at sites of damaged or stalled replication forks [`PMID 12975363`_] * Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid [`PMID 12975363`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 12975363`_] * RAD54 that lacks helicase activity is more efficient in DNA heterology bypass than BLM or REQ1 helicases. [`PMID 22356911`_] * BLM protein is required for two aspects of the cellular response to replicative stress: efficient replication-fork restart and suppression of new origin firing. [`PMID 17603497`_] * Affinity Capture-MS [`PMID 22586326`_] * Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid [`PMID 15364958`_] * Affinity Capture-Western; Co-localization [`PMID 15364958`_] * Affinity Capture-Western; Co-localization [`PMID 15364958`_] * Affinity Capture-Western; Co-localization [`PMID 15364958`_] * Dissolution is highly specific for BLM among human RecQ helicases and critically depends upon a functional HRDC domain in BLM. [`PMID 15990871`_] * Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins [`PMID 11919194`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 11919194`_] * BLM interacts with WRN. [`PMID 11919194`_] * WRN and BLM preferentially unwind telomeric D-loops containing 8-oxo-2'-deoxyguanosine. [`PMID 19734539`_] * data establish the existence of a eukaryotic protein that could promote replication fork regression in vivo and suggest a novel pathway through which BLM might suppress genetic exchanges [`PMID 16766518`_] * Co-purification [`PMID 10783165`_] * Co-purification [`PMID 10783165`_] * Co-purification [`PMID 10783165`_] * Co-purification [`PMID 10783165`_] * Co-purification [`PMID 10783165`_] * results suggest a contribution of BLM and RAD51 to breast cancer development and provide support for the tumorigenic significance of the functional interaction between these two HR proteins [`PMID 18974064`_] * both endogenous and overexpressed human BLM accumulates at sites of laser light-induced DNA double-strand breaks; its HRDC domain is sufficient for its recruitment to the damaged sites [`PMID 16876111`_] * Biochemical Activity [`PMID 11470874`_] * Thus, optimal repair of damaged replication fork lesions likely requires both ATR and ATM. BLM recruits 53BP1 to these lesions independent of its helicase activity, and optimal activation of ATM requires both p53 and BLM helicase activities. [`PMID 15539948`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 16326861`_] * Dosage Rescue [`PMID 20447876`_] * Fanconi anaemia core complex is necessary for BLM phosphorylation [`PMID 15257300`_] * Affinity Capture-Western [`PMID 15257300`_] * SNPs associated with prognosis of lung cancer was mapped to BLM. [`PMID 17855454`_] * BLM interacts with Topoisomerase III-alpha. [`PMID 10734115`_] * Data show that BLM-deficient mouse and human cells suppress homeologous recombination to a similar extent as wild-type cells. [`PMID 20154148`_] * Data show that Bloom syndrome helicase (BLM) formed substantial complexes with only G4 quadruplex DNA while binding only marginally other DNA structures. [`PMID 22272300`_] * This is the first report of high ATM-Chk2 kinase activation and its linkage to replication defects in a Bloom syndrome model. [`PMID 17634426`_] * Based on its surface charge separation and DNA-binding properties, the HRDC domain of BLM may be adapted for a unique function among RecQ helicases--that of bridging protein and DNA interactions. [`PMID 20639533`_] * Abnormal expression of blm is correlated to the drug resistance of leukemia cells, and may play a significant role in repair of DNA damage. [`PMID 21129251`_] * BLM increases the affinity of EXO1 for ends, and MRN recruits and enhances the processivity of EXO1. [`PMID 21325134`_] * Two-hybrid [`PMID 15829507`_] * Affinity Capture-Western; Two-hybrid [`PMID 15829507`_] * Two-hybrid [`PMID 15829507`_] * Two-hybrid [`PMID 15829507`_] * BLM is essential for timely BRCA1/NBS1 function [`PMID 14517203`_] * BLM helicase influences double-strand break repair pathway choice in human chromosomes and suggests that BLM deficiency can engender genomic instability by provoking an increased frequency of homologous recombination events [`PMID 21300576`_] * BLM protein is a crucial suppressor of gene cluster instability. [`PMID 19542097`_] * BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination were studied. [`PMID 17591918`_] * Immunofluorescence studies show that BLM helicase co-localizes with telomeric foci in approximately 70% of cells in asynchronous cultures of ALT human cell lines. [`PMID 12444098`_] * PICH binds to BLM and enables BLM localization to anaphase centromeric threads. PICH and BLM unravel centromeric chromatin and keep anaphase DNA threads mostly free of nucleosomes. [`PMID 21743438`_] * Blm functions in multiple processes related to DNA recombination and repair. [`PMID 19442250`_] * Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [`PMID 19714462`_] * Affinity Capture-Western; Biochemical Activity [`PMID 14729972`_] * hMSH6, a component of the heterodimeric mismatch recognition complex hMSH2/hMSH6 (hMutS(alpha)), interacts with the BLM protein both in vivo and in vitro [`PMID 12974384`_] * Human BLM interacts with both scDna2 and scFEN1. It may participate in the same steps of DNA replication or repair as scFEN1 & scDna2, acting as a molecular matchmaker at a crossroad between replication & repair. [`PMID 12826610`_] * we suggest that when there are verified patients in whom no mutation is detected in the known BLM gene, especially if these patients are also men, the possibility of X-linked recessive inheritance should be taken into consideration. [`PMID 19500012`_] * Affinity Capture-MS; Affinity Capture-Western [`PMID 12973351`_] * ATM and BLM function together in recognizing abnormal DNA structures by direct interaction and that these phosphorylation sites in BLM are important for radiosensitivity status but not for SCE frequency. [`PMID 12034743`_] * Affinity Capture-Western; Co-purification; Reconstituted Complex [`PMID 12034743`_] * Common mutations in the BLM gene were studied in 4 Japanese Bloom Syndrome kindreds. [`PMID 15289897`_] * studies suggest that nucleolar BLM modulates rDNA structures in association with RNA polymerase I to facilitate RNA polymerase I-mediated rRNA transcription [`PMID 22106380`_] * BLM-defective cells display a higher frequency of anaphase bridges and lagging chromatin than do isogenic corrected derivatives that eptopically express the BLM protein. [`PMID 17599064`_] * These results indicate that p53 and BLM functionally interact during resolution of stalled DNA replication forks and provide insight into the mechanism of genomic fidelity maintenance by these nuclear proteins. [`PMID 12606585`_] * We detected a significant association of BLM P868L with an increased rectal cancer risk (odds ratio = 1.29, 95% confidence interval 1.02-1.64 and P = 0.04), suggesting a potential cancer-site specificity. [`PMID 19945966`_] * BLM helicase measures DNA unwound before switching strands and hRPA promotes unwinding reinitiation [`PMID 19165145`_] * The DNA polymerase delta enzyme, as well as the isolated p12 subunit, stimulates the DNA helicase activity of Bloom's syndrome helicase. [`PMID 18682526`_] * Chk1-mediated phosphorylation on BLM at Ser(646) might be a determinant for regulating subnuclear localization and could act as a marker for the activation status of BLM in response to DNA damage. [`PMID 20719863`_] * Affinity Capture-MS; Affinity Capture-Western; Co-localization; Far Western; Reconstituted Complex [`PMID 12724401`_] * Affinity Capture-MS; Affinity Capture-Western [`PMID 12724401`_] * Affinity Capture-MS; Affinity Capture-Western [`PMID 12724401`_] * Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-localization; Reconstituted Complex [`PMID 12724401`_] * Affinity Capture-Western [`PMID 12724401`_] * two novel activities of BLM: disruption of the Rad51-ssDNA (single-stranded DNA) filament, an active species that promotes homologous recombination, and stimulation of DNA repair synthesis [`PMID 18003860`_] * Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [`PMID 18270339`_] * BLM collaborates with RAD51 to facilitate recombination repair and promotes the resistance of BCR/ABL-positive leukemia cells to DNA-damaging agents. [`PMID 15750625`_] * human topoisomerase IIIalpha functions as a decatenase with the assistance of BLM and RMI1 to facilitate the processing of homologous recombination intermediates without crossing over as a mechanism to preserve genome integrity [`PMID 20445207`_] * Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [`PMID 19578796`_] * evolutionarily conserved N-terminal third of BLAP75 mediates complex formation with BLM and Topo IIIalpha and that the DNA binding activity resides in the C-terminal third of this novel protein. [`PMID 18390547`_] * WRN, BLM, and dmRecQ5b have a novel strand pairing capability that, when coordinated with the well established helicase activity, endows these RecQ helicases with a strand exchange function [`PMID 15845538`_] * Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition. [`PMID 11960380`_] * BLM helicase and Mus81 are required to induce transient double-stranded DNA breaks in response to DNA replication stress. [`PMID 18054789`_] * human SUV3 protein interacts with human BLM helicase. [`PMID 17961633`_] * BLM, Topo IIIalpha, and BLAP75 constitute a dissolvasome complex that processes HR intermediates to limit DNA crossover formation [`PMID 16595695`_] * Affinity Capture-Western; Far Western; Two-hybrid [`PMID 15143166`_] * binding by and stimulation of by telomere-binding proteing TRF2 [`PMID 12181313`_] * Reconstituted Complex [`PMID 12181313`_] * BLM interacts with TRF2. [`PMID 12181313`_] * physical interaction between RPA and WRN or BLM helicases plays an important role in the mechanism for RPA stimulation of helicase-catalyzed DNA unwinding. [`PMID 15965237`_] * Affinity Capture-Western [`PMID 20064461`_] * In the absence of BLM SUMOylation, BLM perturbs RAD51 localization at damaged replication forks and inhibits fork repair by homologous recombination (HR). Conversely, BLM SUMOylation relieves its inhibitory effects on HR, and it promotes RAD51 function. [`PMID 19956565`_] * These results suggest an influence of BLM on susceptibility to diffuse large B-cell lymphoma and marginal zone lymphoma [`PMID 19917125`_] * Affinity Capture-MS [`PMID 21693764`_] * BLM functions in recombination-mediated telomere lengthening. [`PMID 15229185`_] * mutation results in bloom syndrome [`PMID 11741924`_] * Loss of function suppresses mismatch repair mutator mechanism. [`PMID 17943968`_] * Results show that Blm promotes HR between diverged sequences through a novel ATPase-independent mechanism. [`PMID 19661064`_] * Two-hybrid [`PMID 11716541`_] * BLM enhances the interaction and co-localization between 53BP1 and RAD51 during replication arrest [`PMID 17984114`_] * Inability of Blm-deficient developing B cells to suppress replication errors manifests in delayed cell cycle progression in transgenic mice, likely accompanied by increased apoptosis rates and tumor development. [`PMID 19109166`_] * The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability as measured by the sister chromatid exchange assay. [`PMID 11472631`_] * BLM deficiency is associated with a relative excess of PRKAR1A in fibroblasts compared to other PKA subunits; PRKAR1A deficiency is associated with increased BLM protein in adrenal hyperplasias. [`PMID 18401830`_] * Affinity Capture-MS [`PMID 21139048`_] * Affinity Capture-MS; Affinity Capture-Western; Co-purification; Far Western; Protein-peptide; Reconstituted Complex; Two-hybrid [`PMID 19015241`_] * Protein-peptide; Two-hybrid [`PMID 19015241`_] * POT1 and RecQ helicases WRN and BLM have cooperative roles in resolving DNA structures at telomeric ends, in a manner that protects the telomeric 3' tail as it is exposed during unwinding [`PMID 16030011`_] * Reuslts reveal new crosstalk between FANC and BLM proteins, extending their interaction beyond the S-phase rescue of damaged DNA to the safeguarding of chromosome stability during mitosis. [`PMID 19465921`_] * BLM, the RecQ DNA helicase mutated in Bloom syndrome, is preferentially modified by SUMO-2/3 both in vitro and in vivo [`PMID 18708356`_] * BLM interacts with p53. This interaction was modeled on a demonstrated interaction between BLM and p53 both from African green monkey. [`PMID 15806145`_] * a component of the BLM/TOPO IIIalpha complex, BLAP75/RMI1, promotes dissolution catalyzed by TOPO IIIalpha [`PMID 16537486`_] * This study demonstrates that BLM Q548X allele is recurrent in Slavic subjects and may be associated with breast cancer risk. [`PMID 21815139`_] * hMSH2/6 formed a complex with BLM-p53-RAD51 in response to the damaged DNA forks during double-stranded break repair. [`PMID 15064730`_] * Affinity Capture-Western; Far Western; Two-hybrid [`PMID 15064730`_] * Affinity Capture-Western; Co-purification [`PMID 15064730`_] * Affinity Capture-Western; Co-purification [`PMID 15064730`_] * BLM and hTOPO IIIalpha together effect the resolution of a recombination intermediate containing a double Holliday junction [`PMID 14685245`_] * these data define a minimal helicase domain of BLM and demonstrate its ability to act as a suppressor of illegitimate recombination [`PMID 12818200`_] * is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. [`PMID 11916980`_] * results suggest that BLM suppresses genome instability by aiding FEN1 cleavage of structure-containing flaps [`PMID 15579905`_] * data show that carriers of a BLM mutation have an increased risk for colorectal cancer [`PMID 12242432`_] * Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 20628086`_] * BLM appears to dissociate from Top3alpha and PML following its phosphorylation and facilitates H2AX phosphorylation in response to replication double-strand breaks induced by Top1. [`PMID 16199871`_] * Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities [`PMID 18448429`_] * RAD51 and ssDNA interact in overlapping regions; This suggests preferential binding for one partner that could regulate homologous recombination and helps to clarify the role of BLM in maintaining genomic stability. [`PMID 21113733`_] * The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control [`PMID 11781842`_] * p53 interacts with BLM. [`PMID 11781842`_] * Data suggest a new function of BLM in cooperating with Mus81 during processing and restoration of stalled replication forks. [`PMID 15805243`_] * BLM deficiency causes the up-regulation of p53, double-strand break and apoptosis. [`PMID 21567087`_] * Results suggest that MPS1-dependent BLM phosphorylation is important for ensuring accurate chromosome segregation, and its deregulation may contribute to cancer. [`PMID 16864798`_] * interactions between BLM and DNA ligase IV play a role in DNA repair in human cells [`PMID 15509577`_] * The Bloom's syndrome helicase stimulates the activity of topoisomerase IIIalpha [`PMID 12433984`_] * findings suggest that, subsequent to fork regression events, WRN and/or BLM could re-establish functional replication forks to help overcome fork blockage [`PMID 21736299`_] * the Bloom's syndrome protein has a role in stimulating flap endonuclease-1 [`PMID 14688284`_] * The N-terminal 1-212 amino acids of BLM of or an ATPase-dead mutant enhanced the ATPase and chromatin-remodeling activities of RAD54. [`PMID 19671661`_] * Affinity Capture-MS; Affinity Capture-Western [`PMID 20347428`_] * Affinity Capture-MS [`PMID 20347428`_] * Affinity Capture-MS [`PMID 20347429`_] * BLM interacts with RAD51. [`PMID 11278509`_] * Disease-causing BLM mutants had low ATPase and helicase activities but their ATP binding abilities were normal. [`PMID 17878217`_] * Results show that Bloom syndrome protein C-terminal helicase-and-ribonuclease D-C-terminal is a compact, robust and acidic motif which may play a distinct role apart from DNA binding. [`PMID 20739603`_] * Results demonstrate the important role of the RAD51 nucleoprotein filament conformation in stimulation of DNA pairing by BLM. [`PMID 19632996`_] * Observational study of genotype prevalence. (HuGE Navigator) [`PMID 18264947`_] .. _PMID 19329795: http://www.ncbi.nlm.nih.gov/pubmed/19329795 .. _PMID 18971343: http://www.ncbi.nlm.nih.gov/pubmed/18971343 .. _PMID 20211839: http://www.ncbi.nlm.nih.gov/pubmed/20211839 .. _PMID 20800603: http://www.ncbi.nlm.nih.gov/pubmed/20800603 .. _PMID 20215422: http://www.ncbi.nlm.nih.gov/pubmed/20215422 .. _PMID 17728255: http://www.ncbi.nlm.nih.gov/pubmed/17728255 .. _PMID 17500065: http://www.ncbi.nlm.nih.gov/pubmed/17500065 .. _PMID 19432957: http://www.ncbi.nlm.nih.gov/pubmed/19432957 .. _PMID 19935873: http://www.ncbi.nlm.nih.gov/pubmed/19935873 .. _PMID 21712816: http://www.ncbi.nlm.nih.gov/pubmed/21712816 .. _PMID 17407155: http://www.ncbi.nlm.nih.gov/pubmed/17407155 .. _PMID 20813000: http://www.ncbi.nlm.nih.gov/pubmed/20813000 .. _PMID 14576316: http://www.ncbi.nlm.nih.gov/pubmed/14576316 .. _PMID 16620772: http://www.ncbi.nlm.nih.gov/pubmed/16620772 .. _PMID 16412221: http://www.ncbi.nlm.nih.gov/pubmed/16412221 .. _PMID 21123383: http://www.ncbi.nlm.nih.gov/pubmed/21123383 .. _PMID 22253018: http://www.ncbi.nlm.nih.gov/pubmed/22253018 .. _PMID 16880735: http://www.ncbi.nlm.nih.gov/pubmed/16880735 .. _PMID 18278455: http://www.ncbi.nlm.nih.gov/pubmed/18278455 .. _PMID 15616572: http://www.ncbi.nlm.nih.gov/pubmed/15616572 .. _PMID 21111748: http://www.ncbi.nlm.nih.gov/pubmed/21111748 .. _PMID 11691925: http://www.ncbi.nlm.nih.gov/pubmed/11691925 .. _PMID 11532193: http://www.ncbi.nlm.nih.gov/pubmed/11532193 .. _PMID 17457718: http://www.ncbi.nlm.nih.gov/pubmed/17457718 .. _PMID 19237606: http://www.ncbi.nlm.nih.gov/pubmed/19237606 .. _PMID 15775963: http://www.ncbi.nlm.nih.gov/pubmed/15775963 .. _PMID 21240188: http://www.ncbi.nlm.nih.gov/pubmed/21240188 .. _PMID 20360068: http://www.ncbi.nlm.nih.gov/pubmed/20360068 .. _PMID 12080066: http://www.ncbi.nlm.nih.gov/pubmed/12080066 .. _PMID 18471088: http://www.ncbi.nlm.nih.gov/pubmed/18471088 .. _PMID 12975363: http://www.ncbi.nlm.nih.gov/pubmed/12975363 .. _PMID 22356911: http://www.ncbi.nlm.nih.gov/pubmed/22356911 .. _PMID 17603497: http://www.ncbi.nlm.nih.gov/pubmed/17603497 .. _PMID 22586326: http://www.ncbi.nlm.nih.gov/pubmed/22586326 .. _PMID 15364958: http://www.ncbi.nlm.nih.gov/pubmed/15364958 .. _PMID 15990871: http://www.ncbi.nlm.nih.gov/pubmed/15990871 .. _PMID 11919194: http://www.ncbi.nlm.nih.gov/pubmed/11919194 .. _PMID 19734539: http://www.ncbi.nlm.nih.gov/pubmed/19734539 .. _PMID 16766518: http://www.ncbi.nlm.nih.gov/pubmed/16766518 .. _PMID 10783165: http://www.ncbi.nlm.nih.gov/pubmed/10783165 .. _PMID 18974064: http://www.ncbi.nlm.nih.gov/pubmed/18974064 .. _PMID 16876111: http://www.ncbi.nlm.nih.gov/pubmed/16876111 .. _PMID 11470874: http://www.ncbi.nlm.nih.gov/pubmed/11470874 .. _PMID 15539948: http://www.ncbi.nlm.nih.gov/pubmed/15539948 .. _PMID 16326861: http://www.ncbi.nlm.nih.gov/pubmed/16326861 .. _PMID 20447876: http://www.ncbi.nlm.nih.gov/pubmed/20447876 .. _PMID 15257300: http://www.ncbi.nlm.nih.gov/pubmed/15257300 .. _PMID 17855454: http://www.ncbi.nlm.nih.gov/pubmed/17855454 .. _PMID 10734115: http://www.ncbi.nlm.nih.gov/pubmed/10734115 .. _PMID 20154148: http://www.ncbi.nlm.nih.gov/pubmed/20154148 .. _PMID 22272300: http://www.ncbi.nlm.nih.gov/pubmed/22272300 .. _PMID 17634426: http://www.ncbi.nlm.nih.gov/pubmed/17634426 .. _PMID 20639533: http://www.ncbi.nlm.nih.gov/pubmed/20639533 .. _PMID 21129251: http://www.ncbi.nlm.nih.gov/pubmed/21129251 .. _PMID 21325134: http://www.ncbi.nlm.nih.gov/pubmed/21325134 .. _PMID 15829507: http://www.ncbi.nlm.nih.gov/pubmed/15829507 .. _PMID 14517203: http://www.ncbi.nlm.nih.gov/pubmed/14517203 .. _PMID 21300576: http://www.ncbi.nlm.nih.gov/pubmed/21300576 .. _PMID 19542097: http://www.ncbi.nlm.nih.gov/pubmed/19542097 .. _PMID 17591918: http://www.ncbi.nlm.nih.gov/pubmed/17591918 .. _PMID 12444098: http://www.ncbi.nlm.nih.gov/pubmed/12444098 .. _PMID 21743438: http://www.ncbi.nlm.nih.gov/pubmed/21743438 .. _PMID 19442250: http://www.ncbi.nlm.nih.gov/pubmed/19442250 .. _PMID 19714462: http://www.ncbi.nlm.nih.gov/pubmed/19714462 .. _PMID 14729972: http://www.ncbi.nlm.nih.gov/pubmed/14729972 .. _PMID 12974384: http://www.ncbi.nlm.nih.gov/pubmed/12974384 .. _PMID 12826610: http://www.ncbi.nlm.nih.gov/pubmed/12826610 .. _PMID 19500012: http://www.ncbi.nlm.nih.gov/pubmed/19500012 .. _PMID 12973351: http://www.ncbi.nlm.nih.gov/pubmed/12973351 .. _PMID 12034743: http://www.ncbi.nlm.nih.gov/pubmed/12034743 .. _PMID 15289897: http://www.ncbi.nlm.nih.gov/pubmed/15289897 .. _PMID 22106380: http://www.ncbi.nlm.nih.gov/pubmed/22106380 .. _PMID 17599064: http://www.ncbi.nlm.nih.gov/pubmed/17599064 .. _PMID 12606585: http://www.ncbi.nlm.nih.gov/pubmed/12606585 .. _PMID 19945966: http://www.ncbi.nlm.nih.gov/pubmed/19945966 .. _PMID 19165145: http://www.ncbi.nlm.nih.gov/pubmed/19165145 .. _PMID 18682526: http://www.ncbi.nlm.nih.gov/pubmed/18682526 .. _PMID 20719863: http://www.ncbi.nlm.nih.gov/pubmed/20719863 .. _PMID 12724401: http://www.ncbi.nlm.nih.gov/pubmed/12724401 .. _PMID 18003860: http://www.ncbi.nlm.nih.gov/pubmed/18003860 .. _PMID 18270339: http://www.ncbi.nlm.nih.gov/pubmed/18270339 .. _PMID 15750625: http://www.ncbi.nlm.nih.gov/pubmed/15750625 .. _PMID 20445207: http://www.ncbi.nlm.nih.gov/pubmed/20445207 .. _PMID 19578796: http://www.ncbi.nlm.nih.gov/pubmed/19578796 .. _PMID 18390547: http://www.ncbi.nlm.nih.gov/pubmed/18390547 .. _PMID 15845538: http://www.ncbi.nlm.nih.gov/pubmed/15845538 .. _PMID 11960380: http://www.ncbi.nlm.nih.gov/pubmed/11960380 .. _PMID 18054789: http://www.ncbi.nlm.nih.gov/pubmed/18054789 .. _PMID 17961633: http://www.ncbi.nlm.nih.gov/pubmed/17961633 .. _PMID 16595695: http://www.ncbi.nlm.nih.gov/pubmed/16595695 .. _PMID 15143166: http://www.ncbi.nlm.nih.gov/pubmed/15143166 .. _PMID 12181313: http://www.ncbi.nlm.nih.gov/pubmed/12181313 .. _PMID 15965237: http://www.ncbi.nlm.nih.gov/pubmed/15965237 .. _PMID 20064461: http://www.ncbi.nlm.nih.gov/pubmed/20064461 .. _PMID 19956565: http://www.ncbi.nlm.nih.gov/pubmed/19956565 .. _PMID 19917125: http://www.ncbi.nlm.nih.gov/pubmed/19917125 .. _PMID 21693764: http://www.ncbi.nlm.nih.gov/pubmed/21693764 .. _PMID 15229185: http://www.ncbi.nlm.nih.gov/pubmed/15229185 .. _PMID 11741924: http://www.ncbi.nlm.nih.gov/pubmed/11741924 .. _PMID 17943968: http://www.ncbi.nlm.nih.gov/pubmed/17943968 .. _PMID 19661064: http://www.ncbi.nlm.nih.gov/pubmed/19661064 .. _PMID 11716541: http://www.ncbi.nlm.nih.gov/pubmed/11716541 .. _PMID 17984114: http://www.ncbi.nlm.nih.gov/pubmed/17984114 .. _PMID 19109166: http://www.ncbi.nlm.nih.gov/pubmed/19109166 .. _PMID 11472631: http://www.ncbi.nlm.nih.gov/pubmed/11472631 .. _PMID 18401830: http://www.ncbi.nlm.nih.gov/pubmed/18401830 .. _PMID 21139048: http://www.ncbi.nlm.nih.gov/pubmed/21139048 .. _PMID 19015241: http://www.ncbi.nlm.nih.gov/pubmed/19015241 .. _PMID 16030011: http://www.ncbi.nlm.nih.gov/pubmed/16030011 .. _PMID 19465921: http://www.ncbi.nlm.nih.gov/pubmed/19465921 .. _PMID 18708356: http://www.ncbi.nlm.nih.gov/pubmed/18708356 .. _PMID 15806145: http://www.ncbi.nlm.nih.gov/pubmed/15806145 .. _PMID 16537486: http://www.ncbi.nlm.nih.gov/pubmed/16537486 .. _PMID 21815139: http://www.ncbi.nlm.nih.gov/pubmed/21815139 .. _PMID 15064730: http://www.ncbi.nlm.nih.gov/pubmed/15064730 .. _PMID 14685245: http://www.ncbi.nlm.nih.gov/pubmed/14685245 .. _PMID 12818200: http://www.ncbi.nlm.nih.gov/pubmed/12818200 .. _PMID 11916980: http://www.ncbi.nlm.nih.gov/pubmed/11916980 .. _PMID 15579905: http://www.ncbi.nlm.nih.gov/pubmed/15579905 .. _PMID 12242432: http://www.ncbi.nlm.nih.gov/pubmed/12242432 .. _PMID 20628086: http://www.ncbi.nlm.nih.gov/pubmed/20628086 .. _PMID 16199871: http://www.ncbi.nlm.nih.gov/pubmed/16199871 .. _PMID 18448429: http://www.ncbi.nlm.nih.gov/pubmed/18448429 .. _PMID 21113733: http://www.ncbi.nlm.nih.gov/pubmed/21113733 .. _PMID 11781842: http://www.ncbi.nlm.nih.gov/pubmed/11781842 .. _PMID 15805243: http://www.ncbi.nlm.nih.gov/pubmed/15805243 .. _PMID 21567087: http://www.ncbi.nlm.nih.gov/pubmed/21567087 .. _PMID 16864798: http://www.ncbi.nlm.nih.gov/pubmed/16864798 .. _PMID 15509577: http://www.ncbi.nlm.nih.gov/pubmed/15509577 .. _PMID 12433984: http://www.ncbi.nlm.nih.gov/pubmed/12433984 .. _PMID 21736299: http://www.ncbi.nlm.nih.gov/pubmed/21736299 .. _PMID 14688284: http://www.ncbi.nlm.nih.gov/pubmed/14688284 .. _PMID 19671661: http://www.ncbi.nlm.nih.gov/pubmed/19671661 .. _PMID 20347428: http://www.ncbi.nlm.nih.gov/pubmed/20347428 .. _PMID 20347429: http://www.ncbi.nlm.nih.gov/pubmed/20347429 .. _PMID 11278509: http://www.ncbi.nlm.nih.gov/pubmed/11278509 .. _PMID 17878217: http://www.ncbi.nlm.nih.gov/pubmed/17878217 .. _PMID 20739603: http://www.ncbi.nlm.nih.gov/pubmed/20739603 .. _PMID 19632996: http://www.ncbi.nlm.nih.gov/pubmed/19632996 .. _PMID 18264947: http://www.ncbi.nlm.nih.gov/pubmed/18264947 .. _BLM Pubmed: PubMed Articles *************** *Recent articles:* * Sokolenko AP et al. "High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia." Int J Cancer. 2012 Jun 15;130(12):2867-73. `PMID 21815139`_ * Tsai YC et al. "Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription." Mol Cell Proteomics. 2012 May;11(5):60-76. `PMID 22586326`_ * Gyimesi M et al. "Complex activities of the human Bloom's syndrome helicase are encoded in a core region comprising the RecA and Zn-binding domains." Nucleic Acids Res. 2012 May;40(9):3952-63. `PMID 22253018`_ * Mazina OM et al. "Polarity and bypass of DNA heterology during branch migration of Holliday junctions by human RAD54, BLM, and RECQ1 proteins." J Biol Chem. 2012 Apr 6;287(15):11820-32. `PMID 22356911`_ * Grierson PM et al. "BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription." Hum Mol Genet. 2012 Mar 1;21(5):1172-83. `PMID 22106380`_ * Kamath-Loeb A et al. "The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures." PLoS One. 2012;7(1):e30189. `PMID 22272300`_ * Machwe A et al. "The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks." Biochemistry. 2011 Aug 16;50(32):6774-88. `PMID 21736299`_ * Ke Y et al. "PICH and BLM limit histone association with anaphase centromeric DNA threads and promote their resolution." EMBO J. 2011 Jul 8;30(16):3309-21. `PMID 21743438`_ * Chabosseau P et al. "Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome." Nat Commun. 2011 Jun 28;2:368. `PMID 21712816`_ * Tatham MH et al. "Comparative proteomic analysis identifies a role for SUMO in protein quality control." Sci Signal. 2011 Jun 21;4(178):rs4. `PMID 21693764`_ .. _PMID 22356911: http://www.ncbi.nlm.nih.gov/pubmed/22356911 .. _PMID 22272300: http://www.ncbi.nlm.nih.gov/pubmed/22272300 .. _PMID 22586326: http://www.ncbi.nlm.nih.gov/pubmed/22586326 .. _PMID 21712816: http://www.ncbi.nlm.nih.gov/pubmed/21712816 .. _PMID 21743438: http://www.ncbi.nlm.nih.gov/pubmed/21743438 .. _PMID 21736299: http://www.ncbi.nlm.nih.gov/pubmed/21736299 .. _PMID 21693764: http://www.ncbi.nlm.nih.gov/pubmed/21693764 .. _PMID 22106380: http://www.ncbi.nlm.nih.gov/pubmed/22106380 .. _PMID 21815139: http://www.ncbi.nlm.nih.gov/pubmed/21815139 .. _PMID 22253018: http://www.ncbi.nlm.nih.gov/pubmed/22253018 *Top Pubmed articles linked to gene BLM matching any search term:* * Xu T et al. "Bleomycin sensitivity in Escherichia coli is medium-dependent." PLoS One. 2012;7(3):e33256. `PMID 22438905`_ * Galuska D et al. "C-peptide increases Na,K-ATPase expression via PKC- and MAP kinase-dependent activation of transcription factor ZEB in human renal tubular cells." PLoS One. 2011;6(12):e28294. `PMID 22162761`_ * Kycia AH et al. "Atomic force microscopy studies of a floating-bilayer lipid membrane on a Au(111) surface modified with a hydrophilic monolayer." Langmuir. 2011 Sep 6;27(17):10867-77. `PMID 21766864`_ * Flachsbart F et al. "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study." Mutat Res. 2010 Dec 10;694(1-2):13-9. `PMID 20800603`_ * Bailey SD et al. "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study." Diabetes Care. 2010 Oct;33(10):2250-3. `PMID 20628086`_ * Møller BL et al. "Functional diversifications of cyanogenic glucosides." Curr Opin Plant Biol. 2010 Jun;13(3):338-47. `PMID 20197238`_ * Nagamatsu A et al. "Use of 18F-fluorodeoxyglucose positron emission tomography for diagnosis of uterine sarcomas." Oncol Rep. 2010 Apr;23(4):1069-76. `PMID 20204293`_ * Sanz MM et al. "Bloom's Syndrome." None 1993;. `PMID 20301572`_ * Jayasuriya AC et al. "Rapid biomineralization of chitosan microparticles to apply in bone regeneration." J Mater Sci Mater Med. 2010 Feb;21(2):393-8. `PMID 19756963`_ * Lindegaard B et al. "The effect of strength and endurance training on insulin sensitivity and fat distribution in human immunodeficiency virus-infected patients with lipodystrophy." J Clin Endocrinol Metab. 2008 Oct;93(10):3860-9. `PMID 18628529`_ * Mager EM et al. "Toxicogenomics of water chemistry influence on chronic lead exposure to the fathead minnow (Pimephales promelas)." Aquat Toxicol. 2008 May 1;87(3):200-9. `PMID 18346799`_ * Jayasuriya AC et al. "Controlled release of insulin-like growth factor-1 and bone marrow stromal cell function of bone-like mineral layer-coated poly(lactic-co-glycolic acid) scaffolds." J Tissue Eng Regen Med. 2008 Jan;2(1):43-9. `PMID 18361482`_ * Cho YW et al. "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex." J Biol Chem. 2007 Jul 13;282(28):20395-406. `PMID 17500065`_ .. _PMID 20628086: http://www.ncbi.nlm.nih.gov/pubmed/20628086 .. _PMID 20197238: http://www.ncbi.nlm.nih.gov/pubmed/20197238 .. _PMID 21766864: http://www.ncbi.nlm.nih.gov/pubmed/21766864 .. _PMID 19756963: http://www.ncbi.nlm.nih.gov/pubmed/19756963 .. _PMID 20301572: http://www.ncbi.nlm.nih.gov/pubmed/20301572 .. _PMID 18628529: http://www.ncbi.nlm.nih.gov/pubmed/18628529 .. _PMID 17500065: http://www.ncbi.nlm.nih.gov/pubmed/17500065 .. _PMID 20204293: http://www.ncbi.nlm.nih.gov/pubmed/20204293 .. _PMID 20800603: http://www.ncbi.nlm.nih.gov/pubmed/20800603 .. _PMID 18346799: http://www.ncbi.nlm.nih.gov/pubmed/18346799 .. _PMID 22162761: http://www.ncbi.nlm.nih.gov/pubmed/22162761 .. _PMID 18361482: http://www.ncbi.nlm.nih.gov/pubmed/18361482 .. _PMID 22438905: http://www.ncbi.nlm.nih.gov/pubmed/22438905