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  • proteins
  • In a hypothetical example, the factors A and B might regulate a distinct set of genes from the combination of factors A and C. This combinatorial nature extends to complexes of far more than two proteins, and allows a very small subset (less than 10%) of the genome to control the transcriptional program of the entire cell. (wikipedia.org)
  • Prokaryotic transcription is governed by three main sequence elements: Promoters are elements of DNA that may bind RNA polymerase and other proteins for the successful initiation of transcription directly upstream of the gene. (wikipedia.org)
  • Operators recognize repressor proteins that bind to a stretch of DNA and inhibit the transcription of the gene. (wikipedia.org)
  • Positive control elements that bind to DNA and incite higher levels of transcription While these means of transcriptional regulation also exist in eukaryotes, the transcriptional landscape is significantly more complicated both by the number of proteins involved as well as by the presence of introns and the packaging of DNA into histones. (wikipedia.org)
  • These modifications can either originate from the parental DNA, or can be added to the gene by various proteins and can contribute to differentiation. (wikipedia.org)
  • Processes that alter the epigenetic profile of a gene include production of activating or repressing protein complexes, usage of non-coding RNAs to guide proteins capable of modification, and the proliferation of a signal by having protein complexes attract either another protein complex or more DNA in order to modify other locations in the gene. (wikipedia.org)
  • By making these alterations, proteins, like transcription factors, may bind DNA less or some protein may be inhibited so that it becomes a block in a signaling cascade and certain genes will then not be induced to be expressed. (wikipedia.org)
  • Histone modifications also act as sites for proteins to attach, which then further alter the gene's expression. (wikipedia.org)
  • DNA is, however, supercoiled and wound around "packaging" proteins called histones (in eukaryotes), and both superstructures are vulnerable to the effects of DNA damage. (wikipedia.org)
  • Chromosomes consist of the DNA sequence, and the proteins (such as histones) that are responsible for its packaging into chromosomes. (wikipedia.org)
  • tumor suppr
  • Foltz G et al (2006) Genome-wide analysis of epigenetic silencing identifies BEX1 and BEX2 as candidate tumor suppressor genes in malignant glioma. (springer.com)
  • However, in some cases mutations, like in oncogenes or tumor suppressor genes, may occur that allow the cell to bypass apoptosis and to survive. (mdpi.com)
  • While this constitutes only 0.000165% of the human genome's approximately 6 billion bases (3 billion base pairs), unrepaired lesions in critical genes (such as tumor suppressor genes) can impede a cell's ability to carry out its function and appreciably increase the likelihood of tumor formation and contribute to tumour heterogeneity. (wikipedia.org)
  • promyelocytic leukem
  • Eight other rare gene rearrangements have been described in APL fusing RARA to promyelocytic leukemia zinc finger (PLZF also known as ZBTB16), nucleophosmin(NPM1), nuclear matrix associated (NUMA1), signal transducer and activator of transcription 5b (STAT5B), protein kinase A regulatory subunit 1α (PRKAR1A), factor interacting with PAPOLA and CPSF1 (FIP1L1), BCL6 corepressor (BCOR) or oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A also known as NABP1) genes. (wikipedia.org)
  • epigenetic
  • Abstract Aberrations in the epigenetic machinery of the genome result in inactivation of critical genes and are important mechanisms in the evolution of malignancies that not only contributes to tumorigenesis but may also precede genetic changes. (springer.com)
  • This review examines the general role of epigenetic changes in the malignant process and focuses on the known changes in gene expression in gliomas due to epigenetic modifications, both in the context of gliomagenesis and in the development of new therapeutic strategies against these malignancies. (springer.com)
  • Dallol A et al (2003) Frequent epigenetic inactivation of the SLIT2 gene in gliomas. (springer.com)
  • Genes implicated in epigenetic control, like DNMT3A , ASXL1 , EZH2 and TET2 , have been discovered to be mutated in MDS. (mdpi.com)
  • Epigenetic modifications such as methylation of CpGs (a dinucleotide composed of a 2'-deoxycytosine and a 2' deoxyguanosine) and histone tail modifications allow activation or repression of certain genes within a cell, in order to create cell memory either in favor of using a gene or not using a gene. (wikipedia.org)
  • This protein belongs to the group of histone-modifying enzymes comprising transactivation domain 9aaTAD and is involved in the epigenetic maintenance of transcriptional memory. (wikipedia.org)
  • Pioneer factors can exhibit their greatest range of effects on transcription through the modulation of epigenetic factors by recruiting activating or repressing histone modification enzymes and controlling CpG methylation by protecting specific cysteine residues. (wikipedia.org)
  • Genes on the other hand, refer only to the DNA sequence (hereditary unit) and it is not necessary that they will be expressed once epigenetic factors are taken into account. (wikipedia.org)
  • 1998
  • Colgan DJ, McLauchlan A, Wilson GDF et al (1998) Histone H3 and U2 snRNA DNA sequences and arthropod molecular evolution. (springer.com)
  • binds
  • When ligand binds to the complex, it induces a conformational change allowing the recruitment of coactivators, histone acetyltransferases, and the basic transcription machinery. (wikipedia.org)
  • The 5' end of the U7 snRNA binds the HDE (Histone Downstream Element), a conserved purine-rich region, located 15 nucleotides downstream the histone mRNA cleavage site. (wikipedia.org)
  • expression
  • Recombination of antigen-receptor loci is regulated both by the developmentally controlled expression of the Rag1 and Rag2 genes and the accessibility of particular loci and their gene segments to recombination. (springer.com)
  • The regulated expression of B-lineage associated genes during B-cell differentiation in bone marrow and fetal liver. (springer.com)
  • Profile gene expression, histone location, replication origin activity etc, and use the data as input to data mining algorithm that tries to find correlations between various aspects of chromosome structure and whatever was profiled. (openwetware.org)
  • Disrupt all occurrences of TF binding sequences that occur in coding sequence (by disrupting the motif but keeping the same amino acid sequence) and then profile gene expression patterns. (openwetware.org)
  • Despite shared aberrations in the MLL gene, expression profiles from MLL -fusion ( MLL -F) and MLL -PTD AMLs display little overlap in gene expression, suggesting distinct molecular origins. (aacrjournals.org)
  • In line with these results, exogenous expression of an MLL fusion gene upregulated LOC100289656 expression in vivo . (aacrjournals.org)
  • Gene expression refers to the transcription of a gene but the RNA produced does not necessarily have to encode a protein product. (wikipedia.org)
  • Transcriptome profiling after deletion of MLL1 in cortical neurons revealed decreased promoter-bound H3K4me3 peaks at 318 genes, with 31 of these having significantly decreased expression and promoter binding. (wikipedia.org)
  • This is important to limit gene expression to specific cell types and has to be removed only when cell differentiation begins. (wikipedia.org)
  • 2001
  • Dong SM et al (2001) Concurrent hypermethylation of multiple genes is associated with grade of oligodendroglial tumors. (springer.com)
  • protein
  • High-mobility group AT-hook 2, also known as HMGA2, is a protein that, in humans, is encoded by the HMGA2 gene. (wikipedia.org)
  • The let-7a miRNA normally represses the HMGA2 gene, and in normal adult tissues, almost no HMGA2 protein is present. (wikipedia.org)
  • Zinc finger and BTB domain-containing protein 16 is a protein that in humans is encoded by the ZBTB16 gene. (wikipedia.org)
  • This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. (wikipedia.org)
  • Zinc finger MYM-type protein 2 is a protein that in humans is encoded by the ZMYM2 gene. (wikipedia.org)
  • These fragments then assemble into different multi-protein complexes that regulate the transcription of specific target genes, including many of the HOX genes. (wikipedia.org)
  • Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the EP300 gene. (wikipedia.org)
  • EP300 is closely related to another gene, CREB binding protein, which is found on human chromosome 16. (wikipedia.org)
  • It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. (wikipedia.org)
  • These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. (wikipedia.org)
  • Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. (wikipedia.org)
  • Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development. (wikipedia.org)
  • In cancer cells, EP300 mutations prevent the gene from producing any functional protein. (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • Pathways
  • In this chapter we synthesize experimental evidence to explain how such signaling pathways and transcription factors can orchestrate the ordered recombination of immunoglobulin (Ig) genes. (springer.com)
  • FoxD3 has been associated as a repressor of both B-cell and melanocytic cell differentiation pathways, maintaining repressive histone modifications where bound, that have to be overcome to start differentiation. (wikipedia.org)
  • The genes that control chromosome instability are known as chromosome instability genes and they control pathways such as mitosis, DNA replication, repair and modification. (wikipedia.org)
  • enzyme
  • A vitamin B12-dependent enzyme catalyzes rearrangement of L-methylmalonyl-CoA to succinyl-CoA, which is an intermediate of the citric acid cycle and can be readily incorporated there. (wikipedia.org)
  • rRNA
  • Canapa A, Schiaparelli S, Marota I, Barucca M (2003) Molecular data from the 16S rRNA gene for the phylogeny of Veneridae. (springer.com)
  • These data provide evidence that different evolutionary forces act at the heterochromatin and the 45S rDNA loci compared to the 5S rRNA and histone H3 genes during the evolution of the Scarabainae karyotypes. (biomedcentral.com)
  • correlates
  • Moreover, gene-specific hypermethylation correlates highly significantly with the risk score according to the International Prognostic Scoring System. (mdpi.com)
  • specific genes
  • Pioneer factors are involved in initiating cell differentiation and activation of cell-specific genes. (wikipedia.org)
  • Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. (wikipedia.org)
  • mutations
  • Within the MLL -F cohort, recurrent missense mutations were detected in the SPI1 transcription factor gene, and 45% of samples were characterized by mutations in RAS pathway genes, which conferred heightened sensitivity to MEK inhibitors and decreased sensitivity to receptor tyrosine kinase (RTK) inhibitors. (aacrjournals.org)
  • Mutations in the EP300 gene are responsible for a small percentage of cases of Rubinstein-Taybi syndrome. (wikipedia.org)
  • Mutations in the EP300 gene have been identified in several other types of cancer. (wikipedia.org)
  • Somatic mutations in the EP300 gene have been found in a small number of solid tumors, including cancers of the colon and rectum, stomach, breast, and pancreas. (wikipedia.org)
  • Daughter cells that inherit these wrong bases carry mutations from which the original DNA sequence is unrecoverable (except in the rare case of a back mutation, for example, through gene conversion). (wikipedia.org)
  • Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. (wikipedia.org)
  • acute promyelo
  • Acute promyelocytic leukemia can be distinguished from other types of AML based on microscopic examination of the blood film or a bone marrow aspirate or biopsy as well as finding the characteristic rearrangement. (wikipedia.org)
  • recruitment
  • The binding of the HDE region by the U7 snRNA, through complementary base-pairing, is an important step for the future recruitment of cleavage factors during histone pre-mRNA processing. (wikipedia.org)
  • Promoter
  • The promoter (P) and RSS (S) regions of each Vγ2 and Vγ3 gene were analyzed in ChIP assays. (rupress.org)
  • Fukushima T et al (2005) Promoter hypermethylation of mismatch repair gene hMLH1 predicts the clinical response of malignant astrocytomas to nitrosourea. (springer.com)
  • The transcription of a basic prokaryotic gene is dependent on the strength of its promoter and the presence of activators or repressors. (wikipedia.org)
  • enzymes
  • Some examples of this include producing the mRNA that encode enzymes to adapt to a change in a food source, producing the gene products involved in cell cycle specific activities, and producing the gene products responsible for cellular differentiation in higher eukaryotes, as studied in evolutionary developmental biology. (wikipedia.org)
  • They can have positive and negative effects on transcription and are important in recruiting other transcription factors and histone modification enzymes as well as controlling DNA methylation. (wikipedia.org)
  • Pioneer factors can play a role in this by binding specific enhancers and flagging histone modification enzymes to that specific gene. (wikipedia.org)
  • nucleosome
  • Whereas point centromeres are defined by sequence, regional and holocentromeres are epigenetically defined by where a specific type of nucleosome (the one containing the centromeric histone H3) is located. (wikipedia.org)
  • cells
  • Tracking individual cells, we show that the cells migrate in two phases that differ in speed, direction and amount of cellular rearrangement. (biologists.org)
  • Evidence such as tumour specific aneuploidy, presence of aneuploidy in various preneoplastic conditions, increased frequency of genetic instability in aneuploid cell lines compared with diploid cells, and mutation of mitotic checkpoint genes suggests that aneuploidy possibly plays an active role in carcinogenesis. (bmj.com)
  • The apparent function of HMGA2 in proliferation and differentiation of cells during development is supported by the observation that mice with mutant HMGA2 genes are unusually small (pygmy phenotype), and genome-wide association studies linking HMGA2-associated SNPs to variation in human height. (wikipedia.org)
  • Humans have four sets of Hox genes, numbering 39 genes altogether, all of which aid in the differentiation of cells by location. (wikipedia.org)
  • nuclear
  • Retinoic acid receptor alpha (RAR-α), also known as NR1B1 (nuclear receptor subfamily 1, group B, member 1) is a nuclear receptor that in humans is encoded by the RARA gene. (wikipedia.org)
  • subtype
  • RAR-α/PLZF gene fusion produces a subtype of APL that is unresponsive to tretinoin therapy and less responsive to standard anthracycline chemotherapy hence leading to poorer long-term outcomes in this subset of patients. (wikipedia.org)
  • fusion genes
  • Specific translocations, t(2;13)(q35;q14) and variant t(1;13)(p36;q14) are most frequent in alveolar rhabdomyosarcoma, resulting in PAX3-FKHR and PAX7-FKHR fusion genes, respectively. (cancerindex.org)
  • regulation
  • Epigenetic research, i.e. the evaluation of heritable gene expression patterns without changes in the DNA sequence, has primarily focussed on the regulation of highly coordinated developmental changes of cells and organisms, as well as disturbances of epigenetic mechanisms in hereditary and acquired human diseases, including cancer. (dfg.de)
  • It was confirmed that the majority of promoters were related with more than one enhancer, which indicates the existence of a complicated network of regulation for the immense majority of genes. (wikipedia.org)
  • The number of distal cis-regulatory elements connected to a promoter is related to the quantitative average of the regulation complexity of a gene. (wikipedia.org)
  • In this way, it was determined that human genes with more interactions with distal DHSs, and with at least one more complex regulation, corresponded with those genes with functions in the immune system. (wikipedia.org)
  • plasmids
  • This manuscript illustrates a protocol for efficiently creating integration-free human induced pluripotent stem cells (iPSCs) from peripheral blood using episomal plasmids and histone deacetylase (HDAC) inhibitors. (jove.com)
  • This 37,672-bp plasmid, pSD11, had an IncX4 backbone similar to that of the IncX4 plasmids obtained from the USA and Australia, in which the cfr gene was flanked by two copies of IS26, and a truncated Tn1331 inserted. (jove.com)
  • Each minicircle contains one to three genes, but blank plasmids, with no coding DNA, have also been found. (wikipedia.org)
  • tRNA
  • The inverted repeat regions usually contain three ribosomal RNA and two tRNA genes, but they can be expanded or reduced to contain as few as four or as many as over 150 genes. (wikipedia.org)
  • mRNA
  • The U7 snRNA is required for histone pre-mRNA processing. (wikipedia.org)
  • The 5' end of the U7 snRNA binds the HDE (Histone Downstream Element), a conserved purine-rich region, located 15 nucleotides downstream the histone mRNA cleavage site. (wikipedia.org)
  • The binding of the HDE region by the U7 snRNA, through complementary base-pairing, is an important step for the future recruitment of cleavage factors during histone pre-mRNA processing. (wikipedia.org)
  • metabolism
  • Examples of PAK1-regulated cellular processes include dynamic of actin and microtubule fibers, critical steps during cell cycle progression, motility and invasion, redox and energy metabolism, cell survival, angiogenesis, DNA-repair, hormone sensitivity, and gene expression. (wikipedia.org)
  • genetic
  • Potential uses of human iPSCs include modeling pathogenesis of human genetic diseases, autologous cell therapy after gene correction, and personalized drug screening by providing a source of patient-specific and symptom relevant cells. (jove.com)
  • In addition, with the advancement of genetic techniques it has become an excellent model to study the gene function in vivo. (wikipedia.org)
  • In diagnosing autosomal dominant cerebellar ataxia the individuals clinical history or their past health examinations, a current physical examination to check for any physical abnormalities, and a genetic screening of the patients genes and the genealogy of the family are done. (wikipedia.org)
  • Moving further into SCA7's pathology, a similar genetic process is described, while the function of ATXN7 (an ataxin gene) is much like a component of the SAGA complex. (wikipedia.org)
  • kinase
  • PAK1 activators relieve this autoinhibition and initiate conformational rearrangements and autoPhosphorylation events leading to kinase activation. (wikipedia.org)
  • genetics
  • Sixteen years later, in 1905, Wilhelm Johannsen introduced the term 'gene' and William Bateson that of 'genetics' while Eduard Strasburger, amongst others, still used the term 'pangene' for the fundamental physical and functional unit of heredity. (wikipedia.org)
  • transcriptionally
  • The larger polyploid macronucleus is transcriptionally active, meaning its genes are actively expressed, and so it controls somatic cell functions during vegetative growth. (wikipedia.org)
  • human
  • Zinc finger nucleases have also been used in a mouse model of haemophilia and a clinical trial found CD4+ human T-cells with the CCR5 gene disrupted by zinc finger nucleases to be safe as a potential treatment for HIV/AIDS. (wikipedia.org)
  • sequence
  • By using repair DNA templates that contain sequence variation or promote the insertion of expression cassettes, gene editing, and site-specific gene integration can be achieved. (plantphysiol.org)
  • A gene is a sequence of DNA or RNA which codes for a molecule that has a function. (wikipedia.org)
  • transcript
  • Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)
  • cell's
  • A-T is caused by a defect in the ATM gene, which is responsible for managing the cell's response to multiple forms of stress including double-strand breaks in DNA. (wikipedia.org)
  • cell
  • Resulting iPSCs were further characterized and deemed free of transfected DNA, integrated transgene DNA, and lack detectable gene rearrangements such as those within the immunoglobulin heavy chain and T cell receptor loci of more differentiated cell types. (jove.com)
  • The differences depend on which genes get expressed by the cell. (wikibooks.org)
  • These factors act, at least partly, by changing the genes of a cell. (wikipedia.org)
  • motility
  • Specifically, how eukaryotic cells generate pattern through self-organization with or without environmental cues, accomplish division or motility through coordinated structural rearrangements and force production, and, when challenged with stress and roadblocks, evolve innovative solutions to main vitality and functionality. (wikipedia.org)
  • found
  • These two approaches are found to give different rates for the rearrangement of a seven-particle cluster despite the fact that both are formally exact. (jove.com)
  • Alternative transcripts of this gene have been found, but their full-length natures have not been determined. (wikipedia.org)
  • results
  • Although he did not use the term gene, he explained his results in terms of discrete inherited units that give rise to observable physical characteristics. (wikipedia.org)
  • repeats
  • Targeted mutagenesis, editing of endogenous maize ( Zea mays ) genes, and site-specific insertion of a trait gene using clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas)-guide RNA technology are reported in maize. (plantphysiol.org)
  • immune
  • This indicates that the complexly of cellular and environmental signals processed by the immune system is directly encoded in the cis-regulatory architecture of its constituent genes. (wikipedia.org)