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Validated All-in-One™ qPCR Primer for NBN(NM_002485.4) Search again
Product ID:
HQP011687
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AT-V1, AT-V2, ATV, NBS, NBS1, P95
Gene Description:
nibrin
Target Gene Accession:
NM_002485.4(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
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq].
Gene References into function
- reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/NBS1-containing fraction
- Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest.
- Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex
- Six common polymorphisms spanning the NBS1 gene have been genotyped and provide no evidence for loss of heterozygosity in the NHL population overall, suggesting that mutations in NBS1 are not involved in NHL development in the United States.
- Functional analysis of protein domains of NBS1 involved in chromatin association and DNA damage responses.
- NBS1 and FANCD2 cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response
- Alterations in this gene and changes in nibrin expression were found in ovarian carcinomas.
- Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
- Novel NBS1 mutations and protein variants identified in 20 cancer cell lines suggest the possible involvement of NBS1 in tumor developmental mechanisms.
- NBS1 is required for phosphorylation of Chk1, indicating that NBS1 might facilitate the access of Chk1 to ATM at the sites of DNA damage.
- results indicate that Nijmegen breakage syndrome 1 gene (NBS1) is a direct transcriptional target of c-Myc and links the function of c-Myc to the regulation of DNA double-strand break repair pathway
- activation in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes
- Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation
- Assembly of functional ALT-associated promyelocytic leukemia bodies requires Nijmegen Breakage Syndrome 1.
- nibrin1 is involved in a signaling pathway that induces ATF3 after ionizing radiation
- Preliminary data suggest that NBS1 mutation carriers can be predisposed to malignant disorders.
- Germline 657del5 mutation in the NBS1 gene is associated with breast cancer
- multiple functional domains of NBS1 are required for ATM-dependent activation of CHK2, nuclear focus formation, S phase checkpoint control, and cell survival after exposure to ionizing radiation
- The 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of malignant melanoma patients, characterized by the occurrence of breast cancer among their relatives.
- The NBS1-185Gln variant is related with p53 gene mutations in lung cancer patients
- ATM-dependent phosphorylation of NBS1 is required for the suppression of TLK activity, indicating a role for NBS1 as an adaptor or scaffold in the ATM/TLK pathway.
- We have developed a novel molecular therapy that inhibits the MRN(95) complex in tumor cells. Disruption the MRN(95) complex and thus DNA repair should result in enhanced tumor killing after classic external-beam radiation therapy.
- ATM and NBS regulate several genes in common, both of these proteins also have distinct patterns of gene regulation.
- The transient slow-down of DNA synthesis was abolished in cells lacking ATR, whereas CHK1-siRNA-treated cells, NBS1 or Fanconi anemia cells showed partial S-phase arrest.
- Results suggest that E2F1 plays a central role in signaling disturbances in the retinoblastoma growth control pathway and, by upregulation of Chk2 by Atm and Nbs1, may sensitize cells to undergo apoptosis.
- WRN associates with the Mre11 complex via binding to Nbs1 in vitro and in vivo
- Mre11-Rad50-Nbs1 complex serves also as a modulator/amplifier of ATM activity.
- demonstrated that MRN (Mre11, Rad50, and Nbs1 proteins) stimulates the kinase activity of ATM in vitro toward its substrates p53, Chk2, and histone H2AX
- Replication protein A, Mre11, Rad50 and Nbs1 bind and have roles in DNA repair
- MDC1 couples DNA ds-break recognition by NBS1 with its H2AFX-dependent chromatin retention.
- Nibrin, Mre11 and Rad50 also act as adaptors for some downstream Atm phosphorylation events
- NBS1 has a role in the functional role in the DNA damage response [review]
- NBS1 has a role in development of the clinical manifestation of Nijmegen breakage syndrome [review]
- NBS1 has at least two important roles in genome maintenance, as a DNA repair protein in HR pathway and as a signal modifier in intra-S phase checkpoints [review]
- the NBS1 657del5 allele is not responsible for most breast cancer in Russia
- Data suggest that Nijmegen breakage syndrome 1 (Nbs1) functions in both ATR- (ataxia-telangiectasia and Rad3-related protein) and ataxia telangiectasia mutated protein-dependent signalling.
- the Mre11/Rad50/Nbs1 (MRN) complex may play a more universal role in the recognition and response to DNA lesions of all types, whereas the role of RPA may be limited to certain subsets of lesions
- a novel pathway in which Nbs1 may recruit Werner syndrome protein to the site of DNA double strand breaks in an ATM-dependent manner
- Nbs1 is a novel p53-independent Mdm2 binding protein and links Mdm2 to the Mre11-Nbs1-Rad50-regulated DNA repair response
- identification of related, conserved carboxy-terminal motifs in human Nbs1, ATRIP and Ku80 proteins that are required for their interaction with ATM, ATR and DNA-PKcs, respectively
- findings show that the Mre11-Rad50-Nbs1 (MRN) complex acts as a double-strand break sensor for ATM and recruits ATM to broken DNA molecules
- NBS1 could be important in the pathogenesis of lung cancer
- The MRE11-RAD50-NBS1 complex accelerates somaatic hypermutation and gene conversion of immunoglobulin variable regions.
- Expression of the main human NBS allele in Nbs1-/- mice leads to immunodeficiency, cancer predisposition, a defect in meiotic progression in females, and cell-cycle checkpoint defects.
- Homozygosity for the 643C>T(R215W) mutation will also lead to a, possibly very, severe disease phenotype and Nijmegen breakage syndrome.
- overexpression of NBS1 is an oncogenic event that contributes to transformation through the activation of PI3-kinase/Akt
- frequency of the mutation in the NBS1 carriers was indeed increased in patients with acute lymphoblastic leukemia and non-Hodgkin lymphoma
- the dynamic architecture of human Rad50/Mre11/Nbs1 is markedly affected by DNA binding
- an interaction with KPNA2 contributes to nuclear localization and multiple tumor suppression functions of the NBS1 complex
- NBS1 has a role in single strand annealing and non-homologous end-joining processes
- Identifies four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation.
- Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen syndrome. The phenotype is due to alternate splicing.
- overexpression of NBS1 is associated with head and neck squamous cell carcinoma
- Mutations in NBS1 is associated with breast cancer
- nibrin plays an active role in Atm activation and that this function requires nibrin-Atm interaction.
- NBS1 polymorphisms and haplotypes may contribute to the etiology of sporadic breast cancer in young non-Hispanic white women
- the Mre11-Rad50-Nbs1 complex stayed in the nucleus and remained intact in response to hypertonicity
- Mre11 stabilizes Nbs1 and Rad50 and MRN activates Chk2 downstream from ATM in response to replication-mediated DNA double strand breaks
- These results indicate that NBS1 overexpression induces EMT through the upregulation of Snail expression, and co-expression of NBS1/Snail predicts metastasis in HNSCCs.
- data suggest that the sensitization to radiation results from NBS1-siRNA-mediated suppression of DNA repair and/ or X-ray-induced cell survival signaling pathways through NFKB and XIAP.
- 6 additional carriers of the 657del5 mutation and 2 carriers of the pathogenic NBS1 R215W mutation were identified among 186 non-Hodgkin lymphoma patients from Central Poland.
- The response of promyelocytic leukemia nuclear bodies to DNA double-strand breaks is regulated by NBS1, ATM, Chk2, and ATR.
- Our results show that the genetic variation in XRCC1, XRCC3 and NBS1 influence lung cancer susceptibility among women, and that combinations of risk alleles in the two HR genes can enhance the effects.
- MRE11, but not RAD50 or NBS1 variants, may play a role in non-Hodgkin's lymphoma
- These results demonstrate that NBS1 suppresses the CD95 death receptor-dependent apoptotic pathway after gamma-irradiation and evidence is given that this is achieved by regulation of the PI3-K/AKT survival pathway.
- N- and C-terminal domains of NBS1 are the major regulatory domains for homologous recombination pathways.
- NBS1 can regulate neuronal proliferation and neuroprotection
- T cell and oocyte development, as well as DNA damage-induced G2/M and S phase checkpoint arrest and radiation survival are dependent on the N-terminal forkhead-associated domain of Nbs1.
- Ordered chromatin structure changes that occur after DNA breakage depend on functional NBS1 and ATM, and facilitate DNA DSB repair.
- NBS1 does not play a major role in predisposition to melanoma in the Southern German population
- the Mre11-Rad50-Nbs1 complex plays critical roles both upstream and downstream of ATR to regulate the S-phase checkpoint when replication forks are stalled
- microsatelite instability and alterations in the MRE11 and RAD50 repeats that are associated with the reduced protein expression and functional impairment of the MRE11-RAD50-NBS1 complex in Lynch syndrome
- The impaired apoptosis response to DNA damage in NBS1 deficient cells might be one of the important mechanisms of cancer predisposition in hereditary disease Nijmegen breakage syndrome patients.
- The S-phase checkpoint, regulated by the ATM-p95/NBS1-SMC1 pathway, was also triggered in hypoxia/reoxygenation-exposed lymphocytes.
- Deacetylation of NBS1 by SIRT1 plays a key role in the dynamic regulation of the DNA damage response and in the maintenance of genomic stability.
- the MRN (MRE11/RAD50/NBS1)complex, and especially NBS1, is required for alternative lengthening of telomeres
- lack of NBS1 inhibits TRF association with telomeres
- NBS1 mutations do not contribute significantly to breast or ovarian cancer development.
- These data support a role for RPA as an initial signal/sensor for DNA damage that facilitates recruitment of MRE11/RAD50/NBS1 and ATM/ATR to sites of damage, where they then work together to fully activate the DNA damage response.
- Studies suggest new roles of Mre11/Rad50/Nbs1 complex in the maintenance of genome stability through preventing rereplication and rereplication-associated double-stranded breaks when licensing control is compromised.
- Together, these results suggested that TopBP1 might be a mediator of DNA damage signaling from NBS1 to ATR and promote homologous recombination repair.
- Heterozygous carriers of the I171V mutation are prone to the development of larynx cancer and display an increased risk of second tumors at other sites.
- Mre11/Rad50/Nbs1 complex (MRN) poses a barrier to adeno-associated virus and that the helper function provided by E1b55K/E4orf6 involves MRN degradation.
- Hypothesis examined in a study of 559 breast cancer patients of single-nucleotide polymorphisms in Mre11, Rad50, and Nbs1 and by the in vivo detection of binding between Mre11 and BRCA1, encoded by the breast cancer susceptibility gene BRCA1.
- Sequence deletion and amino acid substitution in the NBN gene contributes to breast cancer susceptibility
- loss of IFI16 activates p53 checkpoint through NBS1-DNA-PKcs pathway
- NBS1 mediates ATR-dependent RPA hyperphosphorylation following replication fork stall and collapse.
- Rapid accumulation of MRE11 and NBS1 at sites of DNA damage requires PARP1.
- NBS1 and MRE11 promote replication-associated recombination junctions essential for EBV episomal maintenance and genome stability
- Missense mutation in NBS1 gene is associated with breast cancer.
- Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer
- The NBN 657del5 mutation appears to be associated with an elevated risk of cancer in heterozygotes.
- Results are consistent with a model in which physical interaction of Mre11 with viral DNA is mediated by Nbs1, and interferes with viral DNA replication.
- These results demonstrate that NBS1 can function as an adaptor/activator of p110alpha PI 3-kinase through a novel activation motif, consistent with its possible role in cell transformation and tumorigenesis.
- Since DNA was isolated from non malignant cells, all mutations found in cancer patients appeared to be of germinal origin. It can be concluded that NBS1 allele I171V may be a general susceptibility gene in solid tumours.
- Present data represent the first evidence for the role of NBS1 tandem BRCT domains in gamma-H2AX recognition, and could explain the severe phenotype observed in 657del5/R215W NBS patients.
- Ser-Asp-Thr repeats in the MDC1 N terminus recruit NBS1 and increase the local concentration of NBS1 at the sites of chromosomal breakage.
- Snm1B interacts with the Mre11-Rad50-Nbs1 (MRN) complex and with FancD2 further substantiating its role as a checkpoint/DNA repair protein.
- Differential requirements of the C terminus of NBN in suppressing adenovirus DNA replication and promoting concatemer formation are reported.
- Mre11-Rad50-NBS1 complex is thus unlikely to be the major nuclease involved in cleavage of the abasic sites during SHM, whereas NBS1 might have a specific role in regulating the strand-biased repair during phase Ib mutagenesis
- alternative splicing of the NBS1 gene may be associated with the regulation of NBS1 in response to DNA double-strand breaks, DNA alkylation damage, and mitogenic response
- Structure-based single point mutations in Nbs1 were evaluated in vivo and revealed that BRCT2 is essential for an MDC1-dependent relocalization of Nbs1 to DNA damage sites.
- Data show that these CK2-targeted motifs in MDC1 are required to mediate NBS1 association with chromatin-flanking sites of unrepaired DNA double-strand breaks.
- Mutations in the Nijmegen breakage syndrome gene may have a role in development of medulloblastomas
- These results suggest that Mre11-Rad50-Nbs1-dependent generation of ssDNA oligos, which constitute a unique signal of ongoing double-strand breaks repair not encountered in normal DNA metabolism, stimulates ATM activity.
- Significant effects of NBS1 185Gln polymorphisms was seen on the initial repair of MMS-induced DNA damage in human lymphocytes.
- Transcription-coupled DNA double-strand breaks are mediated via the nucleotide excision repair and the Mre11-Rad50-Nbs1 complex
- NBS1 regulates a novel p53 independent apoptotic pathway in response to DNA damage.
- Nbs1 has a function in ATR signalling in a manner distinct to any role at stalled replication forks. Replication-independent ATR signalling also requires the mediator proteins, 53BP1 and MDC1, providing direct evidence for their role in ATR signalling.
- MDC1 regulates intra-S-phase checkpoint by targeting NBS1 to DNA double-strand breaks
- The TT genotype of c.2071-30A>T polymorphism was higher in leukaemia patients than in controls. results suggest that some specific haplotypes of the NBS1 gene may be associated with childhood leukaemia.
- Accelerated DNA repair required both the NBS1 protein and Hdm2, accompanied by phosphorylation of Hdm2, dissociation of NBS-1 and Hdm2, inhibition of NBS-1 degradation, and accelerated phosphorylation of ATM.
- ATM plays a fundamental role in promoting the radiation-induced interaction of NBS1 with SMC1 in the presence of BRCA1, leading to the maintenance of chromosomal integrity.
- A significantly increased risk of renal cell carcinoma associated with the homozygous variant genotype of NBS1 (rs1805794) was observed.
- NBN protein has a functional role in IGF-1 signaling for the promotion of cell proliferation via MAP Kinase Signaling System.
- ATM, Mre11, and Rad50 are required for survival after replication fork stalling, whereas Nbs1 and H2AX are inconsequential.
- NBS1 might be a prognostic factor for patients with microsatellite-stable colorectal cancer in TNM stage I and II
- These data establish a new function for the NBS1 protein as a regulator of PI3K activity via SFK members.
- Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
- the NBS1 gene polymorphism may have a role in cervix carcinoma in a northern Indian population
- the NBS1/ATR/BRCA1 repair machinery affects centrosome behavior, and this might be a crucial role in the prevention of malignances.