• 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)
  • 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)
  • Genes implicated in epigenetic control, like DNMT3A , ASXL1 , EZH2 and TET2 , have been discovered to be mutated in MDS. (mdpi.com)
  • SAC3B, a central component of the mRNA export complex TREX-2, is required for prevention of epigenetic gene silencing in Arabidopsis. (abcam.com)
  • 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)
  • 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)
  • 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)
  • eukaryotes
  • 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)
  • genomic
  • The CRISPR/Cas genome editing system uses a RNA-guided endonuclease technology which allows for inducing indel mutations, specific sequence replacements or insertions and large deletions or genomic rearrangements at any desired location in the genome. (diagenode.com)
  • endogenous
  • 50 genes involved in the pathway and removing all the endogenous copies would be a lot of work, and it's not even clear whether the yeast would still be alive. (openwetware.org)
  • To identify cis-elements that dictate this order of rearrangement, we replaced the endogenous matrix attachment region/ Igk intronic enhancer (MiE κ ) with its heavy chain counterpart (Eμ) in mice. (rupress.org)
  • The deletion of either MiE κ or 3′E κ from the endogenous Igk locus differentially decreases the rearrangement of Igk ( 21 , 22 ). (rupress.org)
  • Protein
  • ING1 (Inhibitor Of Growth Family Member 1) is a Protein Coding gene. (genecards.org)
  • 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)
  • Repression may refer to the decrease in transcription of a gene or inhibition of a protein. (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)
  • 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)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (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)
  • enhancers
  • In addition, the deletion of both Igk enhancers abolishes Igk rearrangement, indicating that these two enhancers play redundant and essential roles in activating Igk rearrangement ( 23 ). (rupress.org)
  • Pioneer factors can play a role in this by binding specific enhancers and flagging histone modification enzymes to that specific gene. (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)
  • repression
  • At the adult stage, repression of the downstream Vγ4 and Vγ3 genes through elements associated with the promoter segments overrides the downstream advantage resulting in preferential rearrangement of the upstream Vγ2 and Vγ5 gene segments. (rupress.org)
  • Methylating the DNA or the modifying the histones that the DNA wraps around is one example that commonly leads to repression. (wikipedia.org)
  • retinoic acid
  • 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)
  • In 95% of cases of APL, retinoic acid receptor-alpha (RARA) gene on chromosome 17 is involved in a reciprocal translocation with the promyelocytic leukemia gene (PML) on chromosome 15, a translocation denoted as t(15;17)(q24;q21). (wikipedia.org)
  • multiple genes
  • Dong SM et al (2001) Concurrent hypermethylation of multiple genes is associated with grade of oligodendroglial tumors. (springer.com)
  • Gonzalez-Gomez P et al (2003) Promoter hypermethylation of multiple genes in astrocytic gliomas. (springer.com)
  • modification
  • Recent studies suggest that histone modification is involved in regulating the accessibility to V(D)J recombinase. (rupress.org)
  • Additionally, mispositioned euchromatin acquires typically heterochromatic histone modification marks. (genetics.org)
  • This is a mechanism for the cell to switch a gene on was observed with glucocorticoid receptor recruiting modification factors that then modify the site to bind activated estrogen receptor which was coined as a "bait and switch" mechanism. (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)
  • sequences
  • Our gene targeting studies show that the downstream Vγ genes rearrange preferentially in the early fetal thymus because of their downstream location, independent of promoter or recombination signal sequences and unrelated to the extent of germline transcription. (rupress.org)
  • Much of this diversity is caused by a great potential variability in CDR3 sequences in the TCR δ chain, but there is also diversity in the number of V, J, and (in the case of δ) D gene segments. (rupress.org)
  • CRISPR/Cas9 genome editing allows for double-stranded DNA breaks at specific sequences to efficiently disrupt, excise, mutate, insert, or replace genes. (diagenode.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)
  • 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)
  • 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)
  • Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. (wikipedia.org)
  • Promoter
  • 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)
  • 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 Vγ3 and Vγ4 genes, located downstream in the TCRγ Cγ1 gene cluster, are expressed by the earliest waves of developing TCRγδ + T cells in the fetal thymus, destined for intraepithelial locations. (rupress.org)
  • Upstream Vγ2 and Vγ5 genes are expressed in later waves in the adult and constitute most TCRγδ + T cells in secondary lymphoid tissue. (rupress.org)
  • These data provide a mechanism for specialization of the fetal thymus for the production of T cells expressing specific Vγ genes. (rupress.org)
  • V(D)J recombination of immunoglobulin (Ig) heavy ( IgH ) and light chain genes occurs sequentially in the pro- and pre-B cells. (rupress.org)
  • This replacement, denoted EμR, substantially increases the accessibility of both V κ and J κ loci to V(D)J recombinase in pro-B cells and induces Igk rearrangement in these cells. (rupress.org)
  • However, EμR does not support Igk rearrangement in pre-B cells. (rupress.org)
  • IgH rearrangement occurs primarily in pro-B cells, and IgL rearrangement occurs primarily in pre-B cells ( 1 ). (rupress.org)
  • However, only a minor demethylation of Igk can be detected in WT pre-B cells ( 32 ), suggesting that demethylation occurs within a small pre-B cell population immediately before the rearrangement of this locus. (rupress.org)
  • In some leukemias MLL is rearranged so that the cells are unable to turn off Hox genes. (pennmedicine.org)
  • 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)
  • Assessing histone demethylase inhibitors in cells: lessons learned. (abcam.com)
  • Humans have four sets of Hox genes, numbering 39 genes altogether, all of which aid in the differentiation of cells by location. (wikipedia.org)
  • genome
  • Active genes have a more open or euchromatic structure, while inactive loci have a more condensed nucleosome arrangement that shares many features with constitutively heterochromatic regions of the genome. (genetics.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • sequence
  • Sigma factors act as mediators of sequence-specific transcription, such that a single sigma factor can be used for transcription of all housekeeping genes or a suite of genes the cell wishes to express in response to some external stimuli such as stress. (wikipedia.org)
  • Fork head domains also have a helix that confers sequence specificity unlike linker histone. (wikipedia.org)
  • 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)
  • germline
  • One potential mechanism is through the activation of germline transcription from germline promoters located upstream of J κ ( 24 - 27 ), as κ 0 germline transcription (κ 0 GT [germline transcript]) appears to play a quantitative role in activating Igk rearrangement ( 28 , 29 ). (rupress.org)
  • Germline transcription of V κ gene segments (V κ GT) may also play a role in regulating the accessibility of the V κ regions ( 30 ). (rupress.org)
  • cell's
  • Many of these lesions cause structural damage to the DNA molecule and can alter or eliminate the cell's ability to transcribe the gene that the affected DNA encodes. (wikipedia.org)
  • characteristic
  • 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)
  • locus
  • The γ locus consists of three functional Jγ-Cγ genes and up to seven Vγ genes, with four of the Vγ genes clustered together upstream of Jγ1 - Cγ1 ( Fig. 1 B ) ( 2 - 4 ). (rupress.org)
  • An intriguing variation on the above-described classic cis -PEV in Drosophila is the dominant PEV of the brown locus, another eye-color gene located in the distal euchromatin of chromosome 2. (genetics.org)
  • molecule
  • One important feature of this spreading model is that the nucleating block of heterochromatin and the gene to be silenced are present on the same DNA molecule. (genetics.org)
  • cell
  • Two other types of cell stacks that participate in ovary morphogenesis, the basal stalks and interfollicular stalks, also form by cell rearrangement utilizing a convergence and extension mechanism. (biologists.org)
  • 1994 ) A putative cell signal encoded by the folded gastrulation gene coordinates cell shape changes during Drosophila gastrulation. (biologists.org)
  • 1989 ) Local shifts in position and polarized motility drive cell rearrangement during sea urchin gastrulation. (biologists.org)
  • This contrasts with other developing epithelia, such as the wing imaginal disc and the embryonic germband in Drosophila , where oriented mitoses and local cell rearrangements appear to direct morphogenesis. (biologists.org)
  • However, V H histones are deactylated during the transition to the pre-B cell stage, in part as a result of a loss of IL-7 signaling ( 35 ). (rupress.org)
  • These factors act, at least partly, by changing the genes of a cell. (wikipedia.org)