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  • RAD9A
  • Reduced mRNA and protein expression of the genomic caretaker RAD9A in primary fibroblasts of individuals with childhood and independent second cancer. (nih.gov)
  • See reference mRNA sequence for the RAD9A gene (NM_004584.2). (nih.gov)
  • See 5 reference sequence protein isoforms for the RAD9A gene. (nih.gov)
  • chromosome
  • Its cognate gene, ATM (see below), is mutated in ataxia telangiectasia, a rare neurodegenerative disease characterised by ataxia telangiectasias, increased chromosome fragility when exposed to ionising radiation and predisposition to lymphomas. (thefreedictionary.com)
  • However, ploidy changes occur in every sexual cycle of all eukaryotes and are associated with the inclusion or exclusion of an entire set of chromosome homologs that significantly alters the DNA repair capacity. (genetics.org)
  • In recent years, novel insight into the regulation of telomerase at chromosome ends has increased our understanding on how telomere length homeostasis in telomerase-positive cells is achieved. (springer.com)
  • telomeric
  • Telomeric DNA ends are inert because they induce neither DNA repair nor DNA damage checkpoint responses. (biologists.org)
  • Since DSBs and telomeres rarely interconvert, it seemed reasonable to imagine that cells distinguish DSBs from telomeres by ensuring that different classes of protein bind to telomeric and DSB DNA ends. (biologists.org)
  • Since telomeric repeats are found at all telomeres, they are presumably essential for telomeres to escape DNA repair or checkpoint responses. (biologists.org)
  • Using a novel proteogenomic approach, we show that Repo-Man is enriched at subtelomeric regions together with H2AZ and H3.3 and that depletion of Repo-Man alters the peripheral localization of a subset of these regions and alleviates repression of some polycomb telomeric genes. (ox.ac.uk)
  • Ancelin K, Brunori M, Bauwens S, Koering CE, Brun C, Ricoul M, Pommier JP, Sabatier L, Gilson E (2002) Targeting assay to study the cis functions of human telomeric proteins: evidence for inhibition of telomerase by TRF1 and for activation of telomere degradation by TRF2. (springer.com)
  • damage
  • Genetic analysis has resulted in the identification of several genes in addition to RAD9 that are required for all DNA damage checkpoints. (embopress.org)
  • 000114857 001__ 114857 000114857 005__ 20181203021031.0 000114857 037__ $$aARTICLE 000114857 245__ $$aA superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins 000114857 269__ $$a1997 000114857 260__ $$c1997 000114857 336__ $$aJournal Articles 000114857 500__ $$aEuropean Molecular Biology Laboratory, Heidelberg, Germany. (epfl.ch)
  • Despite the functional diversity of all these proteins, participation in DNA damage-responsive checkpoints appears to be a unifying theme. (epfl.ch)
  • However, it is now clear that telomeres interact with numerous DNA repair and DNA damage checkpoint proteins. (biologists.org)
  • MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by phosphorylating a number of key proteins. (cancer.gov)
  • Here we demonstrate that overexpression of human Spy1 enhances mammalian cell viability during cellular responses to DNA damage induced by genotoxic agents such as camptothecin, cisplatin, and hydroxyurea. (aacrjournals.org)
  • Clonogenic survival assays and comet assays also show that Spy1 expression enhances cell survival after DNA damage. (aacrjournals.org)
  • We found that Spy1 can activate cdk2 during the DNA damage response and that expression of a dominant-negative form of cdk2 overrides Spy1 function in damaged cells. (aacrjournals.org)
  • Lastly, ablation of endogenous Spy1 expression using small interference RNA results in hypersensitization of cells to DNA damage. (aacrjournals.org)
  • Together, these results demonstrate that human Spy1 mediates protection of mammalian cells against DNA damage. (aacrjournals.org)
  • DNA damage-inducible cell cycle checkpoints are complex signal transduction networks composed of cellular responses to genotoxic stresses. (aacrjournals.org)
  • In this report we demonstrate that Spy1 expression in mammalian cells enhances survival under conditions of genotoxic damage, including treatments of CPT, cisplatin, and HU. (aacrjournals.org)
  • Little is known about whether DNA damage response is regulated differently in haplophase and diplophase during sexual cycles. (genetics.org)
  • Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. (nih.gov)
  • This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. (nih.gov)
  • Little is known about the relationship between DNA damage signaling in cells that are directly irradiated and their corresponding unirradiated bystanders. (springer.com)
  • Eukaryotic cells use a variety of mechanisms to protect themselves from the harmful effects of DNA damage. (ncl.ac.uk)
  • Since the biochemical mechanisms underlying DNA-damage responses are largely conserved between yeast and human cells our studies in a simple, yet powerful model system, are of direct relevance to human health. (ncl.ac.uk)
  • Short telomeres trigger DNA damage checkpoints, which mediate cellular senescence. (springer.com)
  • Checkpoints are enabled through sensing DNA damage, transducing damage signals, and activating effectors. (aacrjournals.org)
  • Overexpression
  • Furthermore, overexpression of HHUS1B in human 293 cells causes significant loss of clonogenicity, whereas similar studies with HHUS1 reveal no such effect. (aacrjournals.org)
  • Assay
  • Real-time PCR probe assay designed for gene expression analysis. (bio-rad.com)
  • Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay. (bio-rad.com)
  • mRAD9
  • Human and mouse paralogues of the evolutionarily conserved mammalian HRAD9 and Mrad9 cell cycle checkpoint control genes have been isolated and called HRAD9B and Mrad9B , respectively. (aacrjournals.org)
  • Our results demonstrate for the first time that HRAD9 and Mrad9 are part of a gene family and reveal a new genetic element encoding a product that interacts with multiple, known cell cycle checkpoint control proteins. (aacrjournals.org)
  • We measured the bystander response of Mrad9 +/+ and Mrad9 −/− mouse embryonic stem cells, as well as human H1299 cells with inherent or RNA interference-mediated reduced RAD9 levels after exposure to 1 Gy α particles, by scoring chromosomal aberrations and micronuclei formation, respectively. (springer.com)
  • We demonstrated that Mrad9 null enhances chromatid aberration frequency induced by radiation in bystander mouse embryonic stem cells. (springer.com)
  • antibody
  • The following antibody was used in this experiment: RAD9 Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5-21275, RRID AB_11152972. (thermofisher.com)
  • repair protein
  • For example, Werner's syndrome, a disease associated with premature human ageing, is associated with a mutation in a gene encoding a DNA repair protein. (ncl.ac.uk)
  • human
  • ATR - Human, 4 unique 29mer shRNA constructs in retroviral untagged vector (Gene ID = 545). (origene.com)
  • PA5-21275 targets Rad9 in IF, IHC-P and WB applications and shows reactivity with Human, mouse and rat samples. (thermofisher.com)
  • On the basis of the assumption that phenotypically similar diseases are caused by functionally related genes, we propose a computational framework that integrates human protein-protein interactions, disease phenotype similarities, and known gene-phenotype associations to capture the complex relationships between phenotypes and genotypes. (embopress.org)
  • We develop a tool named CIPHER to predict and prioritize disease genes, and we show that the global concordance between the human protein network and the phenotype network reliably predicts disease genes. (embopress.org)
  • The genome‐wide prioritization of candidate genes for over 5000 human phenotypes, including those with under‐characterized disease loci or even those lacking known association, is publicly released to facilitate future discovery of disease genes. (embopress.org)
  • The identification of genes responsible for human diseases is of great importance for both understanding human disease pathogenesis and improving clinical practice. (embopress.org)
  • Therefore, one of the greatest challenges in human genetics is to computationally prioritize candidate genes from the results of gene‐mapping studies (even across the whole genome), to assist biologists in identifying causative genes. (embopress.org)
  • Evidences from many sources suggest that similar phenotypes are caused by functionally related genes, referring to as the modular nature of human genetic diseases ( Oti and Brunner, 2007 ). (embopress.org)
  • With this understanding, we propose a regression model that integrates human protein-protein interaction network and disease phenotype similarities with known gene-phenotype associations to infer novel gene-phenotype associations. (embopress.org)
  • Further, CIPHER is effective in prioritizing candidate genes from the whole genome instead of genetic loci, which enables us to perform genome‐wide scans of causative genes for most of the recorded human phenotypes. (embopress.org)
  • 293T cells (human embryonic kidney) were cultured in DMEM supplemented with 10% fetal bovine serum at 37°C in 10% CO 2 . (aacrjournals.org)
  • Northern blot analysis to detect tissue specificity indicates that the human and mouse genes are expressed predominantly in the testis. (aacrjournals.org)
  • Human ATM full-length ORF (AAH07023.1, 1 a.a. - 138 a.a.) recombinant protein with GST-tag at N-terminal. (abnova.com)
  • Radiation induced bystander effects are an important component of the overall response of cells to irradiation and are associated with human health risks. (springer.com)
  • The enhanced bystander response in human cells was associated with a unique transcriptomic profile. (springer.com)
  • alternatively spliced transcript
  • An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. (origene.com)
  • Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. (nih.gov)
  • Alternatively spliced transcript variants of this gene have been described. (nih.gov)
  • Polyclonal
  • Polyclonal antibodies raised against the Rad9 protein recognized several polypeptides in asynchronous cultures, and in cells arrested in S or G 2 /M phases while a single form was observed in G 1 ‐arrested cells. (embopress.org)