• DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2. (wikipedia.org)
  • Detection methods for microsatellite instability include polymerase chain reaction (PCR) and immunohistochemical (IHC) methods, polymerase chain checking the DNA and immunohistochemical surveying mismatch repair protein levels. (wikipedia.org)
  • Here, we report positional cloning of Pairing homoeologous 2 (Ph2) and functional validation of the wheat DNA mismatch repair protein MSH7-3D as a key inhibitor of homoeologous recombination, thus solving a half-century-old question. (nature.com)
  • Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. (nih.gov)
  • MutSα then associates with MLH1 to repair the damaged DNA. (wikipedia.org)
  • Another group of proteins, the MLH1-PMS2 dimer, then binds to the MSH2 dimer and repairs the errors by removing the mismatched DNA and replicating a new segment. (medlineplus.gov)
  • This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. (nih.gov)
  • The PMS2 protein joins with another protein called MLH1 (produced from the MLH1 gene) to form a two-protein complex called a dimer. (medlineplus.gov)
  • These complexes function in DNA repair pathways, primarily DNA MISMATCH REPAIR , where MutL/MLH1 and the MUTS DNA MISMATCH-BINDING PROTEIN are targeted to damaged DNA . (nih.gov)
  • Three MutL homologues (MLH1, MLH3 and PMS2) and two MutS homologues (MSH4 and MSH5) are involved in this process. (biomedcentral.com)
  • MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. (wikipedia.org)
  • MSH2 is involved in many different forms of DNA repair, including transcription-coupled repair, homologous recombination, and base excision repair. (wikipedia.org)
  • Mutations associated with HNPCC are broadly distributed in all domains of MSH2, and hypothetical functions of these mutations based on the crystal structure of the MutSα include protein-protein interactions, stability, allosteric regulation, MSH2-MSH6 interface, and DNA binding. (wikipedia.org)
  • In eukaryotes from yeast to humans, MSH2 dimerizes with MSH6 to form the MutSα complex, which is involved in base mismatch repair and short insertion/deletion loops. (wikipedia.org)
  • In the MutSα dimer, MSH6 interacts with the DNA for mismatch recognition while MSH2 provides the stability that MSH6 requires. (wikipedia.org)
  • MSH2 can be imported into the nucleus without dimerizing to MSH6, in this case, MSH2 is probably dimerized to MSH3 to form MutSβ. (wikipedia.org)
  • MSH2 has two interacting domains with MSH6 in the MutSα heterodimer, a DNA interacting domain, and an ATPase domain. (wikipedia.org)
  • The MSH2 domain of MutSα prefers ADP to ATP, with the MSH6 domain preferring the opposite. (wikipedia.org)
  • Studies have indicated that MutSα only scans DNA with the MSH2 domain harboring ADP, while the MSH6 domain can contain either ADP or ATP. (wikipedia.org)
  • MutSβ is formed when MSH2 complexes with MSH3 instead of MSH6. (wikipedia.org)
  • The MSH2 gene provides instructions for making a protein that plays an essential role in repairing DNA. (medlineplus.gov)
  • The MSH2 protein joins with one of two other proteins, MSH6 or MSH3 (each produced from a different gene), to form a two-protein complex called a dimer. (medlineplus.gov)
  • MSH2 gene variants result in near or complete loss of MSH2 protein production. (medlineplus.gov)
  • MSH2 gene variants involved in Lynch syndrome may cause the production of an abnormally short or inactive MSH2 protein or prevent the production of any protein from one copy of the gene. (medlineplus.gov)
  • A decrease in functional MSH2 protein leads to an increase in unrepaired DNA errors during cell division. (medlineplus.gov)
  • Because there is some functional MSH2 protein produced from the normal copy of the gene, mismatch repair activity in Lynch syndrome is reduced but not absent, as it is in CMMRD syndrome (described above). (medlineplus.gov)
  • Some variants in the MSH2 gene cause a form of Lynch syndrome called Muir-Torre syndrome. (medlineplus.gov)
  • DNA damage appears to be the primary underlying cause of cancer, and deficiencies in expression of DNA repair genes appear to underlie many forms of cancer. (wikipedia.org)
  • With such models, the interactions between genes, proteins or other multiomics data can be captured and studied, and provide valuable insight into their functional relationships. (biomedcentral.com)
  • The resulting hubs (i.e. genes or proteins with a high number of interactions) may again be used to identify central genes, functionally important proteins or pathway initiators, and thus potential drug targets [ 1 ]. (biomedcentral.com)
  • One setting where integrative network analysis has a lot of potential is when there are two types of data, e.g. measured mRNA and protein, associated with the same genes. (biomedcentral.com)
  • The majority of these cancer cases are caused by mutations in the human homologs of the E. Coli mutS and mutL genes. (elsevierpure.com)
  • Cellular DNA-binding proteins encoded by the rel gene (GENES, REL). (childrensmercy.org)
  • Using the ONCOMINE and Gene Expression Omnibus (GEO) databases, we compared the gene expression of 24 importins and exportins in 20 cancer microarray datasets and then analyzed the survival of the candidate genes, CSE1L (Chromosome Segregation Like 1 protein/CAS) was finally selected. (researchsquare.com)
  • The purpose of this work is three-fold: (1) to examine whether MMR gene polymorphisms are associated with increased risk of azoospermia or oligozoospermia, (2) to ascertain whether genetic variants in MMR genes result in sperm DNA damage and, thereby, increase male infertility, and (3) to investigate the biological activity of the significant functional variants. (biomedcentral.com)
  • The PMS2 gene provides instructions for making a protein that plays an essential role in repairing DNA. (medlineplus.gov)
  • PMS2 gene variants result in near or complete loss of PMS2 protein production. (medlineplus.gov)
  • PMS2 gene variants involved in this condition lead to the production of an abnormally short or inactive PMS2 protein from one copy of the gene. (medlineplus.gov)
  • Proto-Oncogene Proteins c-rel" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • This graph shows the total number of publications written about "Proto-Oncogene Proteins c-rel" by people in this website by year, and whether "Proto-Oncogene Proteins c-rel" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Proto-Oncogene Proteins c-rel" by people in Profiles. (childrensmercy.org)
  • The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. (nih.gov)
  • DNA repair proteins that include the bacterial MutL protein and its eukaryotic homologs. (nih.gov)
  • The provenance and biochemical roles of eukaryotic MORC proteins have remained poorly understood since the discovery of their prototype MORC1, which is required for meiotic nuclear division in animals. (beds.ac.uk)
  • Consistent with a chromatin-associated role, the MORCs display fusions to several DNA- and peptide-binding domains, which are commonly found other eukaryotic chromatin proteins [ 5 ]. (beds.ac.uk)
  • To unravel the provenance and relationships of the MORC family, we initiated sequence profile searches using the PSI-BLAST program seeded with eukaryotic MORC proteins. (beds.ac.uk)
  • A multiple alignment of the eukaryotic MORCs with these prokaryotic homologs showed that both versions contained all four conserved motifs required for adenosine and phosphate binding in the GHKL superfamily (Fig. 1 ). (beds.ac.uk)
  • The prokaryotic and eukaryotic MORC homologs were unified to the exclusion of the other GHKL proteins by a specific GhXhhpXXRhl motif (h: hydrophobic, p: polar, X: any) in the S5-fold domain (Fig. 1 ). (beds.ac.uk)
  • Networks may be constructed from data found by high-throughput gene expression profiling technologies, such as microarray or RNA-seq [ 2 ]. (biomedcentral.com)
  • A specific mRNA molecule is transcribed from each gene, which then can be translated into a specific protein. (biomedcentral.com)
  • Thus, each gene is associated with a specific mRNA sequence and protein. (biomedcentral.com)
  • The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. (nih.gov)
  • There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. (nih.gov)
  • Genomic DNA clone containing exons 2-8 for hMSH3 gene. (riken.jp)
  • The SET domain containing 2 histone lysine methyltransferase ( SETD2) gene encodes the functional domain of an enzyme that trimethylates histone H3 at lysine 36 (H3K36me3), which mediates MMR in a way that removes lesions associated with a persistently open chromatin structure in early replication, and preferentially safeguards active transcripts during replication by recruiting hMutSa which can quickly identify the mismatch to initiate the MMR reaction [ 15 , 16 ]. (biomedcentral.com)
  • Using contextual information from conserved gene neighborhoods we show that these proteins primarily function in restriction-modification systems, in conjunction with diverse superfamily II DNA helicases and endonucleases. (beds.ac.uk)
  • Disruption of the microrchidia gene also resulted in altered localization of the meiotic endonuclease, Spo11 [ 2 ]. (beds.ac.uk)
  • The common ancestor of these GHKL proteins, MutL and topoisomerase ATPase modules appears to have catalyzed structural reorganization of protein complexes and concomitant DNA-superstructure manipulations along with fused or standalone nuclease domains. (beds.ac.uk)
  • Additionally, the prokaryotic homologs contained a C-terminal α+β domain with the same secondary structure as the S5-fold domain that is also found in a subset of the GHKL superfamily, namely the topoisomerase ATPase domains, MutL and Hsp90. (beds.ac.uk)
  • Notably, an extended N-terminal region is present in SETD2 that is absent in Set2, its yeast homolog. (frontiersin.org)
  • Although SETD2 is functionally important, the protein does not accumulate in human cells. (frontiersin.org)
  • The human MutS and MutL proteins form heterodimeric complexes that mediate the initial steps of MMR, including the recognition of mismatched base(s) arising from errors in replication, and signaling downstream proteins to facilitate mismatch removal. (elsevierpure.com)
  • Rel frequently combines with other related proteins (NF-KAPPA B, I-kappa B, relA) to form heterodimers that regulate transcription. (childrensmercy.org)
  • ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
  • The mechanism by which it recognizes mutations is different as well, because it separates the two DNA strands, which MutSα does not. (wikipedia.org)
  • Specific molecular therapy can target mutated cell lines in which DNA defect repair is altered, caused by mutations of BRCA2, partner and localizer of BRCA2 (PALB2), and phosphatase and tensin homolog (PTEN) or the transmembrane protease serine 2-ERG (TMPRSS2-ERG) fusion. (bjbms.org)
  • With our method, mRNA data are demonstrated to provide highly useful prior information for protein-protein interaction networks. (biomedcentral.com)
  • protein_coding" "Cz03g40300.t1","No alias","Chromochloris zofingiensis","Pre-mRNA processing factor 4 (PRP4)-like [Interproscan]. (ntu.edu.sg)
  • protein_coding" "Cz05g30030.t1","No alias","Chromochloris zofingiensis","mRNA splicing factor Cwf21 domain [Interproscan]. (ntu.edu.sg)
  • Export and import of mRNA and specific proteins from the nucleus is a key step in intracellular signaling and can lead to cell proliferation or apoptosis. (researchsquare.com)
  • Most benefits were demonstrated in cyclin dependent-kinase 12 ( CDK12) mutated cell lines when treated with anti-programmed cell death protein 1 (PD1) therapy. (bjbms.org)
  • Desmoplastic infantile ganglioglioma (DIG), is a rare tumor arising mainly during the first 2 years of life. (frontiersin.org)
  • This complex coordinates the activities of other proteins that repair errors made during DNA replication. (medlineplus.gov)
  • The altered protein cannot efficiently repair errors made during DNA replication. (medlineplus.gov)
  • The MutSα dimer scans double stranded DNA in the nucleus, looking for mismatched bases. (wikipedia.org)
  • Heterochromatin is repressive and compacted form of chromatin in the interphase nucleus. (nii.ac.jp)
  • This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. (medlineplus.gov)
  • A shortage of this protein eliminates mismatch repair activity and prevents the proper repair of DNA replication errors. (medlineplus.gov)
  • 1) Various complex formation of Histone methyltransferases for repressive chromatin and the molecular basis of their formation, 2) Relationship between heterochromatin formation and repressive histone modification on inactive X chromosome, 3) Involvement of an HP1 binding protein in pathway choice for repairing double-strand breaks. (nii.ac.jp)
  • The pathway also supplies important precursor metabolites including 2-oxoglutarate. (easyomics.org)
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
  • It functions as a negative regulator of CELL PROLIFERATION and NEOPLASTIC CELL TRANSFORMATION and is commonly fused with cellular abl protein to form BCR-ABL FUSION PROTEINS in PHILADELPHIA CHROMOSOME positive LEUKEMIA patients. (bvsalud.org)
  • The sequence of the human nuclear genome has been completed in draft form by an international public consortium consisting of 16 sequencing centers and associated computational facilities [ 1 ]. (biomedcentral.com)
  • 7) nuclear protein reflecting the level of proliferative activity (Ki-67) [4, 5]. (cttjournal.com)
  • Phosphoribosyl pyrophosphate (PRPP) formed from ribose-5P [MD:M00005] is an activated compound used in the biosynthesis of histidine and purine/pyrimidine nucleotides. (easyomics.org)
  • Interestingly, a protein-coding splice variant of SETD2 lacks the extended N-terminus but contains the catalytic SET domain as per the ENSEMBL database. (frontiersin.org)
  • Based on EV proteomes, we defined the identification number of protein A as the number of datasets which contain protein A. Therefore, proteins with higher identification numbers were more conserved. (evpedia.info)
  • This dimer repairs longer insertion/deletion loops than MutSα. (wikipedia.org)
  • The index is based on the integration of public transcript, protein, and mapping information, supplemented with computational prediction. (biomedcentral.com)
  • Consequently, the recruitment of immune cells during chronic inflammation increases oxidative stress (OS) in the microenvironment [ 2 ]. (hindawi.com)
  • Obtained GT can be an unusual event in colaboration with CML, and it could be caused by the forming of autoantibodies against the GPIIb/IIIa complex [2]. (cancercurehere.com)
  • Thirty percent of the genome is in finished form, including the entire sequence of chromosomes 21 and 22 [ 7 ]. (biomedcentral.com)
  • The assembly provides simplified descriptions of the genome, as disparate data sources such as GenBank and numerous expressed sequence tag (EST) and protein databases are unified. (biomedcentral.com)
  • It is a form of genome instability associated with defects in DNA MISMATCH REPAIR. (lookformedical.com)
  • The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS). (lookformedical.com)
  • In addition, survival analysis revealed that SKCM patients with low transcriptional levels of E2F1/2/3/6 were associated with a significantly better prognosis. (fortunepublish.com)
  • most commonly reported cause of streptococcal meningitis Isolates from Canada and the United States have received in adults in Vietnam and the second in Thailand ( 2 , 3 ). (cdc.gov)
  • If you search for specific repeat class use the following form. (easyomics.org)