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Validated All-in-One™ qPCR Primer for BLM(NM_000057.3) Search again
Product ID:
HQP016844
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BS, MGRISCE1, RECQ2, RECQL2, RECQL3
Gene Description:
BLM RecQ like helicase
Target Gene Accession:
NM_000057.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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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.
Gene References into function
- The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability as measured by the sister chromatid exchange assay.
- Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype
- binds human mismatch repair protein MLH1; nuclear localization
- mutation results in bloom syndrome
- The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control
- is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest.
- Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins
- Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition.
- 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.
- recombinant p53 binds to BLM and WRN helicases and attenuates their ability to unwind synthetic Holliday junctions in vitro
- binding by and stimulation of by telomere-binding proteing TRF2
- data show that carriers of a BLM mutation have an increased risk for colorectal cancer
- The Bloom's syndrome helicase stimulates the activity of topoisomerase IIIalpha
- Immunofluorescence studies show that BLM helicase co-localizes with telomeric foci in approximately 70% of cells in asynchronous cultures of ALT human cell lines.
- 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.
- these data define a minimal helicase domain of BLM and demonstrate its ability to act as a suppressor of illegitimate recombination
- 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.
- hMSH6, a component of the heterodimeric mismatch recognition complex hMSH2/hMSH6 (hMutS(alpha)), interacts with the BLM protein both in vivo and in vitro
- 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
- BLM is essential for timely BRCA1/NBS1 function
- 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
- BLM and hTOPO IIIalpha together effect the resolution of a recombination intermediate containing a double Holliday junction
- the Bloom's syndrome protein has a role in stimulating flap endonuclease-1
- hMSH2/6 formed a complex with BLM-p53-RAD51 in response to the damaged DNA forks during double-stranded break repair.
- BLM functions in recombination-mediated telomere lengthening.
- Fanconi anaemia core complex is necessary for BLM phosphorylation
- Common mutations in the BLM gene were studied in 4 Japanese Bloom Syndrome kindreds.
- interactions between BLM and DNA ligase IV play a role in DNA repair in human cells
- 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.
- results suggest that BLM suppresses genome instability by aiding FEN1 cleavage of structure-containing flaps
- SCE in the fancc/blm mutant was similar to that in blm cells, indicating functional linkage between FANCC and BLM
- BLM collaborates with RAD51 to facilitate recombination repair and promotes the resistance of BCR/ABL-positive leukemia cells to DNA-damaging agents.
- Data suggest a new function of BLM in cooperating with Mus81 during processing and restoration of stalled replication forks.
- 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
- physical interaction between RPA and WRN or BLM helicases plays an important role in the mechanism for RPA stimulation of helicase-catalyzed DNA unwinding.
- Dissolution is highly specific for BLM among human RecQ helicases and critically depends upon a functional HRDC domain in BLM.
- 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
- 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.
- 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
- a component of the BLM/TOPO IIIalpha complex, BLAP75/RMI1, promotes dissolution catalyzed by TOPO IIIalpha
- BLM, Topo IIIalpha, and BLAP75 constitute a dissolvasome complex that processes HR intermediates to limit DNA crossover formation
- 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
- Results suggest that MPS1-dependent BLM phosphorylation is important for ensuring accurate chromosome segregation, and its deregulation may contribute to cancer.
- 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
- BLM helicase is a new substrate for cdc2, which may have potential physiological implications for the role of BLM in mitosis.
- 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.
- BLM helicase deficiency results in genomic instability and cancer.
- BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination were studied.
- BLM-defective cells display a higher frequency of anaphase bridges and lagging chromatin than do isogenic corrected derivatives that eptopically express the BLM protein.
- BLM protein is required for two aspects of the cellular response to replicative stress: efficient replication-fork restart and suppression of new origin firing.
- This is the first report of high ATM-Chk2 kinase activation and its linkage to replication defects in a Bloom syndrome model.
- BLM is stably associated with TOP3A and RMI1 protein.
- SNPs associated with prognosis of lung cancer was mapped to BLM.
- Disease-causing BLM mutants had low ATPase and helicase activities but their ATP binding abilities were normal.
- Loss of function suppresses mismatch repair mutator mechanism.
- human SUV3 protein interacts with human BLM helicase.
- BLM enhances the interaction and co-localization between 53BP1 and RAD51 during replication arrest
- 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
- BLM helicase and Mus81 are required to induce transient double-stranded DNA breaks in response to DNA replication stress.
- BLM protein expression may play an important role in the development of hematopoietic tumor cells
- 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.
- 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.
- Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities
- 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.
- The DNA polymerase delta enzyme, as well as the isolated p12 subunit, stimulates the DNA helicase activity of Bloom's syndrome helicase.
- BLM, the RecQ DNA helicase mutated in Bloom syndrome, is preferentially modified by SUMO-2/3 both in vitro and in vivo
- 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.
- 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
- 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.
- BLM helicase measures DNA unwound before switching strands and hRPA promotes unwinding reinitiation