• Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
  • Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
  • Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
  • RS is related to various mutations on the MECP2 gene, which codes for methyl-CpG binding protein-2 (MECP2). (medscape.com)
  • A series of histopathologically confirmed formalin-fixed, paraffin-embedded SCLC specimens were analysed for epidermal growth factor receptors ( EGFR ) , KRAS, NRAS and BRAF mutations, ALK gene rearrangements and MET amplification. (biomedcentral.com)
  • No mutations in EGFR , KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified. (biomedcentral.com)
  • These include mutations in the IDH1 and IDH2 genes in astrocytomas and oligodendrogliomas, histone H3 K27M mutations in midline gliomas, or BRAF mutations in a range of low-grade and high-grade glial and glioneuronal tumours. (ama.ba)
  • Other biomarkers of relevance are mutations in the TERT promoter, the ATRX gene, and genomic alterations such as 1p/19q codeletion, EGFR amplification, and chromosome 7 gain and 10 loss. (ama.ba)
  • While the precise mechanism underlying activation of the ALT pathway is unclear, mutations in the chromatin remodeling protein ATRX, histone chaperone DAXX, and the histone variant H3.3 correlate with ALT status. (oncotarget.com)
  • In primary tumors, mutations in driver genes frequently provide a survival advantage and give rise to a dominant clonal population. (spandidos-publications.com)
  • Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. (nature.com)
  • Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)
  • Finally, around 5% of patients have loss of function mutations in the UBE3A gene, a gene encoding E6-AP, a ubiquitin protein ligase. (bmj.com)
  • Demethylases are enzymes that remove methyl (CH3) groups from nucleic acids, proteins (particularly histones), and other molecules. (wikipedia.org)
  • Demethylases are important epigenetic proteins, as they are responsible for transcriptional regulation of the genome by controlling the methylation of DNA and histones, and by extension, the chromatin state at specific gene loci. (wikipedia.org)
  • ChIP utilizes antibodies that selectively recognize and bind proteins, including histones, histone modifications, transcription factors, and cofactors, to provide information about chromatin states and gene transcription. (cellsignal.com)
  • For example, ChIP can be used to compare the presence of certain proteins at various loci, map the various proteins across a genomic region of interest, or quantify protein binding to an inducible gene in response to a stimulus over time. (cellsignal.com)
  • PCR may not be required for downstream analysis due to the high abundance of histone proteins. (cellsignal.com)
  • The advantage of X-ChIP is that it can be used with histone and non-histone proteins and generally requires less cellular starting material than N-ChIP. (cellsignal.com)
  • Once the chromatin immunoprecipitation itself is complete, several downstream analyses can be conducted on the purified chromatin and the associated proteins, histones, transcription factors, and cofactors. (cellsignal.com)
  • David Allis, whose work underpinned a new understanding of the role of histone proteins in gene expression, has passed away at 71. (laskerfoundation.org)
  • TE-rich genomic islands in expanded fungal ( P. fijiensis , L. maculans ) and oomycete ( Phytophthora infestans ) genomes carry genes that code for lineage-specific, putative small, secreted proteins. (biomedcentral.com)
  • DDX5 is required for cell proliferation by controlling the transcription of genes expressing DNA replication proteins in cancer cells in which the DDX5 locus is amplified, and this has uncovered a dependence on DDX5 for cell proliferation. (aacrjournals.org)
  • The lifestyle of such a receptor was also reported inside a mouse pituitary cell range (22), suggesting a second gene can be mixed up in manifestation of the GC-binding proteins at least in the central anxious system. (fabretp.org)
  • To fit into the tiny cell nucleus, it is condensed around proteins called histones. (unige.ch)
  • Polycomb Group (PcG) proteins are a family of protein complex that regulate gene expression, especially repressing gene transcription [ 1 ]. (hindawi.com)
  • Alternative splicing of gene can generate multiple transcripts and proteins to regulate tissue and organ development [ 17 ]. (hindawi.com)
  • Histone methyltransferases (HMTs) and demethylases (HDMs) dynamically alter the methylation state of DZ2002 histone proteins. (innovation-ecosystems-agora.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (hindawi.com)
  • Genomic amplification and oncogenic properties of the GASC1 histone demethylase gene in breast cancer. (musc.edu)
  • Our comprehensive map of the colon cancer genome confirmed recurrent and specific low-level copy number changes of chromosomes 7, 8, 13, 18, and 20, and unveiled additional, novel sites of genomic imbalances including amplification of a histone gene cluster on chromosome 6p21.1-21.33 and deletions on chromosome 4q34-35. (figshare.com)
  • The systematic comparison of segments of copy number change with gene expression profiles showed that genomic imbalances directly affect average expression levels. (figshare.com)
  • A more comprehensive analysis of 236 cancer genes using next generation sequencing demonstrated all 98 patients to have at least one genomic alteration [ 14 ]. (biomedcentral.com)
  • Genomic DNA copy number variation is a hallmark of cancer and can lead to alteration in the expression and functions of genes residing within the affected chromosomal region [ 5 ]. (biomedcentral.com)
  • Epigenetic regulation is very important in early embryo development for it can affect genomic imprinting, gene reprogramming and gene expression. (tmu.edu.tw)
  • Using genomic PCR amplification and Sanger sequencing of the coding region we identified 11 sequence variants distributed in 10/134 DLBCL cases and 1/35 FL cases (Supplementary Table 1). (researchassistantresume.com)
  • Histone modifications and chromatin-associated protein complexes are crucially involved in the control of gene expression, supervising cell fate decisions and differentiation. (researchgate.net)
  • ChIP is used to investigate a particular protein-DNA interaction, several protein-DNA interactions, or interactions across the whole genome or a subset of genes. (cellsignal.com)
  • The principle behind ChIP is relatively straightforward and relies on the use of an antibody to isolate, or precipitate, a certain protein, histone, transcription factor, or cofactor and its bound chromatin from a protein mixture that was extracted from cells or tissues. (cellsignal.com)
  • ChIP-PCR is performed to analyze histone modifications and/or protein binding to a known subset of target loci in the genome. (cellsignal.com)
  • Here, using Next Generation Sequencing we identified a novel gene fusion event between DAXX and the kinesin motor protein, KIFC3, leading to the translation of a chimeric DAXX-KIFC3 fusion protein. (oncotarget.com)
  • Sequencing the highly variable outer membrane protein A ( ompA ) gene identified a new genetic variant designated L2b, which subsequently has been identified in nearly all recent LGV cases in MSM that have been investigated ( 2 ). (cdc.gov)
  • 2 of them (penicillin-binding protein and histone H1-like protein [ hctB ]), are subjected to selection pressure, which facilitates analysis of epidemiologic changes over limited periods. (cdc.gov)
  • The mutant MLLT1 protein shows altered binding to acetylated histone tails. (nature.com)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • BACKGROUND The histone methyltransferase (HMT) family includes histone lysine methyltransferases (HKMTs) and histone/protein arginine methyltransferases (PRMTs). (cancerindex.org)
  • Genotyping of ASFV isolates by partial sequencing of the B646L gene that encodes the major capsid protein p72 has identified 22 genotypes ( 6 ). (cdc.gov)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • The reference population was either all tumors that are diploid for the gene in question or when available normal adjacent tissue. (researchatlanta.org)
  • First, we learned that miR-212-3p undergoes epigenetic silencing by histone modifications in group 3 tumors. (nebraska.edu)
  • Given the high frequency of DDX5 amplification in breast cancer, our results highlight DDX5 as a promising candidate for targeted therapy of breast tumors with DDX5 amplification, and indeed we show that DDX5 inhibition sensitizes a subset of breast cancer cells to trastuzumab. (aacrjournals.org)
  • Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
  • Background: Bivalent chromatin domains consisting of the activating histone 3 lysine 4 trimethylation (H3K4me3) and repressive histone 3 lysine 27 trimethylation (H3K27me3) histone modifications are enriched at developmental genes that are repressed in embryonic stem cells but active during differentiation. (researchgate.net)
  • TETs' role in the crosstalk with specific histone modifications, however, is largely elusive. (researchgate.net)
  • We model central nervous system development using organoids, and select three histone modifications as proxies for dynamic epigenetic change and validate our findings in a primary developing human brain. (researchgate.net)
  • This effect is accompanied by epigenetic changes involving histone post-translational modifications at the mineralocorticoid receptor (MR) gene and decreased MR expression in the hippocampus. (nature.com)
  • Although it is clear that switching among BESs does not involve DNA rearrangements and that regulation is probably epigenetic, it remains unknown why BESs are transcribed by Pol I and what roles are played by chromatin structure and histone modifications. (asm.org)
  • Studies of genes transcribed by RNA polymerase II (Pol II) have shown that open and closed chromatin structures are dynamically regulated through multiple mechanisms, including histone modifications, histone variant incorporation, and DNA methylation (reviewed in reference 17 ). (asm.org)
  • In mammalian cells, active and silent rDNA promoters are characterized by specific histone modifications, DNA methylation, and positioning of the promoter-bound nucleosome (reviewed in reference 22 ). (asm.org)
  • Covalent modifications of histones affect DNA compaction and can recruit further histone modifying enzymes. (uni-muenchen.de)
  • Among these post-translational modifications are different methylation states (mono-, di-, tri-methylation) on the lysine (K) residue at position 20 of histone 4 (H4K20). (uni-muenchen.de)
  • Pfluger, J. and Wagner, D. (2007) Histone modifications and dynamic regulation of genome accessibility in plants. (scirp.org)
  • When T cells are activated, histone modifications take place which, on one hand, condense DNA and prevent transcription of genes ensuring longevity, while on the other hand open up and allow transcription of genes driving their inflammatory and killing function. (unige.ch)
  • The lysine substrates and identified according to their position in the corresponding histone amino acid sequence and methylation state (for example, H3K9me3 refers to trimethylated histone 3 lysine 9. (wikipedia.org)
  • Here we show that bivalent domains and chromosome architecture for bivalent genes are dynamically regulated during the cell cycle in human pluripotent cells. (researchgate.net)
  • Haploinsufficiency of chromosome 17p and c-Myc amplification distinguish group 3 medulloblastomas which are associated with early metastasis, rapid recurrence, and swift mortality. (nebraska.edu)
  • Distinct role of histone chaperone Asf1a and Asf1b during fertilization and pre-implantation embryonic development in mice. (omicsdi.org)
  • Expression-gene mapping, network analyses and chromatin looping nominated candidate disease-relevant target genes modulated by these daSNVs. (stanford.edu)
  • PCR arrays looking into target genes from the main signaling pathways indicated how the mGR will not exert its results through the transcriptional activity of the most common kinases in these leukemic cells, but RhoA signaling surfaced from our pathway evaluation. (fabretp.org)
  • The main role of p53 as a tumor suppressor relies on its transcriptional activity to regulate target genes in a variety of biological pathways (Sullivan et al. (villajoyosacf.info)
  • Histone lysine demethylase LSD1 (later classified as KDM1A) was first identified in 2004 as a nuclear amine oxidase homolog. (wikipedia.org)
  • The histone lysine demethylase KDM4 subfamily comprised of four members (A B C and D) play critical roles in controlling transcription chromatin architecture and cellular differentiation. (researchatlanta.org)
  • Up coming we looked into the restorative potential of the book histone demethylase inhibitor NCDM-32B in breasts cancer. (researchatlanta.org)
  • Among these, EZH2 that mediates repressive histone H3 lysine 27 trimethylation (H3K27me3) is upregulated and binds to muscle specific genes in ERMS. (elifesciences.org)
  • This includes altered expression of histone deacetylases, methyltransferases as well as lncRNAs and microRNAs that inhibit differentiation. (elifesciences.org)
  • Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer. (cancerindex.org)
  • Methylation-associated silencing of SFRP1 with an 8p11-12 amplification inhibits canonical and non-canonical WNT pathways in breast cancers. (musc.edu)
  • Here, we present whole-genome chromatin immunoprecipitation followed by high-throughput DNA sequencing (ChIP-seq) analyses of a wide variety of histone markers in the brain, heart, and liver of early human embryos shortly after their formation. (researchgate.net)
  • Chromatin endogenous cleavage (ChEC) and psoralen experiments indicated that active rDNA is devoid of histones ( 23 ), whereas chromatin immunoprecipitation (ChIP) and genetic studies led to the conclusion that active rDNA has at least a few histones and is associated with chromatin-remodeling enzymes ( 15 , 31 , 34 ). (asm.org)
  • The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
  • HMGCS2 , the gene that regulates ketone body production, is expressed in liver and several extrahepatic tissues, such as the colon. (aacrjournals.org)
  • We identify an important role for DDX5 in G 1 -S-phase progression where it directly regulates DNA replication factor expression by promoting the recruitment of RNA polymerase II to E2F-regulated gene promoters. (aacrjournals.org)
  • Classically, glucocorticoids (GCs)1 exert their immunomodulatory impact by activating the cytosolic glucocorticoid receptor (cGR), which translocates towards the nucleus and regulates gene manifestation (1). (fabretp.org)
  • BACKGROUND:Asf1 is a well-conserved histone chaperone that regulates multiple cellular processes in different species. (omicsdi.org)
  • Since identification of EZH2 in the research of protooncogene product Vav [ 3 ], studies have shown that EZH2 is highly expressed in tumorigenesis, which regulates the expression of tumor suppressor genes, such as in breast cancer, prostate cancer, and lung cancer [ 4 - 6 ]. (hindawi.com)
  • The tumor suppressor gene p53 regulates cell cycle arrest to allow time for DNA repair. (villajoyosacf.info)
  • For the current study, we performed transcriptome and small RNA sequencing to profile gene expression in SB-induced HCCs in an attempt to clarify the genetic element(s) contributing to tumorigenesis. (prolekarniky.cz)
  • Two studies used targeted gene panels and identified genetic aberrations in 15 % (9 gene panel) and 6.2 % (6 gene panel) of patients with SCLC [ 2 , 15 ]. (biomedcentral.com)
  • Our results demonstrate genetic overexpression and amplification from the KDM4 demethylases in various subtypes of breasts cancers. (researchatlanta.org)
  • Multilocus sequence typing (MLST) is a genotyping method based on amplification and sequencing of several genetic regions. (cdc.gov)
  • Follow-up integration of daSNV gene editing with clinical cohort analyses suggested that magnesium transport dysfunction may increase neuropsychiatric disease risk and indicated that common genetic pathomechanisms may mediate specific symptoms that are shared across multiple neuropsychiatric diseases. (stanford.edu)
  • For example, loss of function of the microglial gene Trem2 renders microglia dysfunctional and causes an early-onset neurodegenerative syndrome, and Trem2 variants are among the strongest genetic risk factors for AD. (stanford.edu)
  • Transposable elements (TE) are important components of livestock and poultry genomes, contributing to their genetic diversity, chromatin states, gene regulatory networks, and complex traits of economic value. (biomedcentral.com)
  • Transposable elements can be considered as a source of raw material for primitive genomes, tools of genetic innovation, and ancestors of modern genes (e.g., ncRNA) [ 15 ]. (biomedcentral.com)
  • Genetic changes on the P-glycoprotein 11 gene, encoding an ABCB transporter, have been linked to the ML-resistant phenotypes and have been proposed as markers of drug resistance. (biomedcentral.com)
  • In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non- BRCA1 and - BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. (biomedcentral.com)
  • The malaria parasite exerted a potent selective signature on the human genome, which is apparent in the genetic polymorphism landscape of genes related to pathogenesis. (biomedcentral.com)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • KDM1A gene expression is observed to be upregulated in some cancers, and so KDM1A inhibition has therefore been considered a possible epigenetic treatment for cancer. (wikipedia.org)
  • Other gene expression data has also suggested KDM4A, KDM4B, and KDM4C are overexpressed in prostate cancer. (wikipedia.org)
  • As ChIP-seq cannot establish physical co-occurrence of two marks on the same allele, admixture of cells that either express (green) or do not express (red) the gene in focus could explain the occurrence of both marks as well as the low expression level in the overall population. (researchgate.net)
  • In contrast, in the case of ''true'' bivalency, virtually all cells in the population carry both marks simultaneously at the promoter in question, leading to low, if any, expression for that gene in all cells. (researchgate.net)
  • The epigenetic regulation of spatiotemporal gene expression is crucial for human development. (researchgate.net)
  • A combination of proteomic analysis and molecular biology techniques used in ChIP allow for the ability to understand gene expression and regulation in cells or tissues of interest. (cellsignal.com)
  • This is accompanied by epigenetic changes at the mineralocorticoid receptor (MR) gene and decreased MR expression, that can be mimicked in vivo by pharmacological blockade of MR. These findings highlight the potential adaptive benefit of adverse experiences in early life, and implicate a stress hormone receptor and its epigenetic regulation. (nature.com)
  • Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. (biomedcentral.com)
  • In CaCo-2 colonic epithelial cells, the expression of this gene increases with cell differentiation. (aacrjournals.org)
  • The factors responsible for the postnatal and starvation-associated induction of HMGCS2 gene expression have been identified and shown to involve changes in circulating hormone and fatty acid levels. (aacrjournals.org)
  • recurrent copy number alterations gene expression and breast cancer subtypes. (researchatlanta.org)
  • Here we conducted a meta-analysis of KDM4A B C and D in breast cancer and identified associations among recurrent copy number alterations gene expression and breasts cancers subtypes. (researchatlanta.org)
  • For mRNA expression data the relative expression of an individual gene and the gene expression distribution in a reference population were analyzed. (researchatlanta.org)
  • Taken together, the findings of the present study suggest that the cellcycle dependent placement of H4K20 di-methylation in G1/ G0 neutralizes the repressive role of the residue's mono-methylation, thereby allowing the expression of the necessary cytoskeletal genes to perform basal body disengagement, apical transport and axonemal outgrowth. (uni-muenchen.de)
  • Here, there are at least four major and specific aims will be proceeding in three years in this project: (1) For the first year, the effects of hypoxia on embryo development and related gene expression (transcriptomics and microRNA) profiles will be examined by Affymetrix DNA Chip and Q-PCR-based megaplex pre-amp microRNA assay. (tmu.edu.tw)
  • 4) Also, we will trying to integrate the results and information of hypoxia-induced gene expression profiles, epigenetic regulation, and the embryo development signaling to identify the mechanisms of the influences of hypoxia in embryo development by the genome-wide iterative enrichment analysis in composite regulatory signature database (CRSD). (tmu.edu.tw)
  • Moreover, MLLT1 -mutant tumours show an increase in MYC gene expression and HOX dysregulation. (nature.com)
  • HCT in EAE mice leads to an enhancement of this myeloid state, as well as clinical improvement, reduction of demyelinated lesions, suppression of cytotoxic T cells, and amelioration of reactive astrogliosis reflected in reduced expression of EAE-associated gene signatures in oligodendrocytes and astrocytes. (stanford.edu)
  • Some major effects of Alu -element amplifications include alterations of gene expression from insertions near gene promotors, insertional mutagenesis and repeat-mediated non-homologous recombination that can lead to disease, and 'exonization' of Alu elements yielding alternative splicing of transcripts. (biomedcentral.com)
  • Nevertheless the over-expression from the traditional GR transcript didn't result in an increased degree of mGR (22), recommending how Rabbit Polyclonal to Histone H2A the membrane isoform isn't an unmodified GR localized for the cell surface area simply. (fabretp.org)
  • A cross-talk between metabolism and gene expression. (unige.ch)
  • Here, we identified the coding sequence of the EZH2 gene and characterized its expression pattern in fetal tissues of Duroc pigs at 65- and 90-day postcoitus (dpc). (hindawi.com)
  • Furthermore, the decreased expression of the EZH2 gene is crucial for stem cell differentiation into specific cell lineages involved in myogenesis, adipogenesis, osteogenesis, neurogenesis, and haematopoiesis [ 9 ]. (hindawi.com)
  • Thus, the appropriate expression level of the EZH2 gene is important for embryonic development. (hindawi.com)
  • However, the transcript and expression status of the EZH2 gene during porcine embryonic development remains unknown. (hindawi.com)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Gene expression profiling studies identified the heterogeneity of this germinal center (GC)-related malignancy by distinguishing three phenotypic subtypes namely germinal center B cell-like (GCB) DLBCL activated B cell-like (ABC) DLBCL and primary mediastinal 24, 25-Dihydroxy VD3 B cell lymphoma (PMBL)2 with a small subset of cases that remain unclassified. (researchassistantresume.com)
  • Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines. (biomedcentral.com)
  • and heterochromatization which result in selective gene expression or repression. (bvsalud.org)
  • ASF1 is a highly conserved histone H3/H4 chaperone that synergizes in vitro with two other histone chaperones, chromatin assembly factor 1 (CAF-1) and histone repression A factor (HIRA), in DNA synthesis-coupled and DNA synthesis-independent nucleosome assembly. (omicsdi.org)
  • Examples of these genes are BRCA1 and BRCA2 in breast and ovarian cancers. (hindawi.com)
  • As the number and characteristics of such alleles are undetermined, a focussed candidate gene approach based on genes closely interacting with the known susceptibility genes such as BRCA1 and BRCA2 , the two major susceptibility genes identified yet, constitutes a study design of choice to identify rare-moderate-penetrance susceptibility alleles. (biomedcentral.com)
  • The E7 oncoprotein associates with Mi2 and histone deacetylase activity to promote cell growth. (virosin.org)
  • The histone deacetylase (HDAC) inhibitor trichostatin A (TSA) showed stronger growth suppression in H1975-OR cells than in H1975-P cells, but vorinostat, another HDAC inhibitor, showed equal inhibitory efficacy in both cell types. (biomedcentral.com)
  • Many promoters in embryonic stem (ES) cells harbor a distinctive histone modification signature that combines the activating histone H3 Lys 4 trimethylation (H3K4me3) mark an. (researchgate.net)
  • Histone chaperones have been implicated in nucleosome assembly and disassembly as well as histone modification. (omicsdi.org)
  • African trypanosomes have the unique property of using Pol I to also transcribe the variant surface glycoprotein VSG genes. (asm.org)
  • ATRX and DAXX facilitate deposition of the histone variant H3.3 within heterochromatic regions suggesting that loss of ATRX, DAXX, and/or H3.3 lead to defects in the stability of telomeric heterochromatin. (oncotarget.com)
  • 27nt-RNAs guide histone variant deposition via 'RNA-induced DNA replication interference' and thus transmit parental genome partitioning in Stylonychia. (uni-bielefeld.de)
  • The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines. (biomedcentral.com)
  • The p.Arg215Trp variant, suggested to impair NBN binding to histone γ-H2AX, was observed in one breast cancer case and one healthy control. (biomedcentral.com)
  • Additional studies have indicated that KDM3A may play a role in regulation of androgen receptor-dependent genes as well as genes involved in pluripotency, indicating a potential role for KDM3A in tumorigenesis. (wikipedia.org)
  • These findings highlight the beneficial impact that early adverse experiences can have in adulthood, and the implication of epigenetic modes of gene regulation. (nature.com)
  • The rat HMGCS2 gene contains elements that control its multihormonal regulation and tissue specificity ( 11 - 14 ). (aacrjournals.org)
  • Transposable elements are able to affect conserved and divergent chromatin looping and contribute to cell- and species-specific gene regulation [ 11 ]. (biomedcentral.com)
  • Transforming properties of 8p11-12 amplified genes in human breast cancer. (musc.edu)
  • Identification and functional analysis of 9p24 amplified genes in human breast cancer. (musc.edu)
  • The most common methods for single gene analysis and whole genome analysis are qPCR and ChIP-seq, respectively. (cellsignal.com)
  • Genome-wide studies in Saccharomyces cerevisiae , for example, have revealed that promoters of most actively transcribed genes are depleted of nucleosomes and that histone density is inversely proportional to the transcription rate within coding regions, suggesting that nucleosomes are dynamically disassembled and reassembled at each passage of the polymerase ( 16 ). (asm.org)
  • Such a segment in the tumor genome may harbor either oncogenes or tumor suppressor genes depending on whether they are present in increased or decreased copy number, respectively. (biomedcentral.com)
  • Transposable elements (TEs) can be key drivers of evolution, but the mechanisms and scope of how they impact gene and genome function are largely unknown. (biomedcentral.com)
  • To further test the effects of transposon-aided gene amplifications on genome evolution and architecture, the repetitive fraction of the significantly expanded genome of the banana pathogen, Pseudocercospora fijiensis , was analyzed in greater detail. (biomedcentral.com)
  • These results indicate that the interplay of TEs and RIP can result in different and unpredictable fates of amplified genes, with variable effects on gene and genome evolution. (biomedcentral.com)
  • TEs have been detected in the genomes of both prokaryotic and eukaryotic organisms [ 1 ], and have been rightly labeled as 'drivers of genome evolution' [ 2 ] due to their direct and indirect impacts on genes and genomes. (biomedcentral.com)
  • Here, we identify mutants of histones H3.1 and H3.3 that are unable to interact with human ASF1A and ASF1B isoforms but that are still competent to bind CAF-1 and HIRA, respectively. (omicsdi.org)
  • Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)
  • While this may reflect the fact that we have yet to identify the next BRCA gene, it may also reflect the polygenic nature of breast cancer susceptibility. (hindawi.com)
  • However, the precipitation step is less efficient and DNA amplification by PCR is necessary for downstream analyses. (cellsignal.com)
  • Previous analyses revealed that TE-mediated gene amplifications can have variable effects on fungal genomes, from inactivation of function to production of multiple active copies. (biomedcentral.com)
  • These analyses identified a housekeeping gene, histone H3, which was captured and amplified to hundreds of copies by a hAT DNA transposon, all of which were inactivated by RIP, except for the original. (biomedcentral.com)
  • Based on these findings, we propose that ketogenesis is an undesirable metabolic characteristic of the proliferating cell, which is down-regulated through c-Myc-mediated repression of the key metabolic gene HMGCS2 . (aacrjournals.org)
  • This gene encodes a member of the trithorax group of transcriptional activators. (cancerindex.org)
  • The gene encodes a transcriptional activator and is found mutated in ~11% of diffuse large B cell lymphomas (DLBCLs) and ~12% of follicular lymphomas. (researchassistantresume.com)
  • KDM2A and KDM2B possess CXXC zinc finger domains responsible for binding to unmethylated CpG islands, and it is believed that they may bind to many gene regulatory elements in the absence of sequence-specific transcription factors. (wikipedia.org)
  • As one of the two distinct complexes, namely, Polycomb Repressive Complex 1 (PRC1) and PRC2, PRC2 mediates gene silencing by modulating chromatin structure [ 2 ]. (hindawi.com)
  • On a sub-cellular level, the apical actin cytoskeleton was not properly established and while amplification of the centriole-like basal bodies still occured, their disengagement from perinuclear deuterosomes as well as their apical transport and docking were impeded. (uni-muenchen.de)
  • Deletion of the gene for KDM1A can have effects on the growth and differentiation of embryonic stem cells and is universally lethal in knockout mice. (wikipedia.org)
  • Phosphatidylinositol 3-kinase recruitment by p185erbB-2 and erbB-3 is potently induced by neu differentiation factor/heregulin during mitogenesis and is constitutively elevated in growth factor-independent breast carcinoma cells with c-erbB-2 gene amplification. (musc.edu)
  • Using in vivo incorporation of the DNA replication marker BrdU (5-bromo-2'-deoxyuridine) and anti-phospho-histone H3 immunolabelling, we found that a localised posterior region of proliferating cells does not occur at any developmental stage in onychophoran embryos. (biomedcentral.com)
  • Donald Brown, a biologist who provided insights into gene amplification and the ways that cells manufacture RNAs, has passed away at the age of 91. (laskerfoundation.org)
  • We find that the DDX5 locus is frequently amplified in breast cancer and that breast cancer-derived cells with amplification of DDX5 are much more sensitive to its depletion than breast cancer cells and a breast epithelial cell line that lacks DDX5 amplification. (aacrjournals.org)
  • But the disease history of the patient, in combination with the amplification process, exhausts the cells: they reach a state of terminal differentiation that precipitates the end of their life cycle without leaving them time to act on the length. (unige.ch)
  • In vivo study of the nucleosome assembly functions of ASF1 histone chaperones in human cells. (omicsdi.org)
  • Human HIRA, ASF1a, ASF1b and CAF-1 are evolutionally conserved histone chaperones that form multiple functionally distinct chromatin-assembly complexes, with roles linked to diverse nuclear process, such as DNA replication and formation of heterochromatin in senescent cells. (omicsdi.org)
  • Six variants (all identified by WGS) involved MLLT1 , a gene not previously reported to be involved in WT. (nature.com)
  • The role of HMT gene variants in prostate cancer remains unknown. (cancerindex.org)
  • To day liposome-based fluorescence amplification methods have been utilized (26), permitting the recognition of only 50 receptor substances per cell. (fabretp.org)
  • KDM4B upregulation has bee observed in medulloblastoma, and KDM4C amplification has been documented in oesophageal squamous carcinoma, medulloblastoma and breast cancer. (wikipedia.org)
  • Consistent with this, biochemical analysis of wild-type and phospho-mimetic Asf1a shows that phosphorylation enhances binding to histones and the downstream chaperones CAF-1 and HIRA. (omicsdi.org)
  • c-Myc transrepression is mediated by blockade of the transactivating activity of Miz-1, which occurs mainly through a Sp1-binding site in the proximal promoter of the gene. (aacrjournals.org)
  • In maize, a miniature inverted-repeat transposable element (MITE) inserted into the promoter of the NAC gene ( ZmNAC111 ) has been found to enhance drought tolerance at the seedling stage [ 20 ]. (biomedcentral.com)
  • Enhancer of zeste homolog 2 (EZH2), one of the core components of PRC2, is a methyltransferase possessing the enzymatic activity to generate di/trimethylated lysine 27 in histone H3 [ 2 ]. (hindawi.com)
  • Tumor suppressor genes on this locus have not been adequately characterized. (nebraska.edu)
  • Similarly, a change in tomato fruit shape from round to elongate was initiated by a retrotransposon-mediated gene duplication of the SUN locus. (biomedcentral.com)
  • In order for gene transcription to occur, specific DNA regions need to unwrap, which happens by modifying histones. (unige.ch)
  • METHODS:We analyzed the dynamics of histone chaperone Asf1a and Asf1b in oocytes and pre-implantation embryos in mice by immunofluorescence and real-time quantitative PCR, and further investigated the role of Asf1a and Asf1b during fertilization and pre-implantation development by specific Morpholino oligos-mediated knock down approach. (omicsdi.org)
  • Two main classes of histone lysine demethylases exist, defined by their mechanisms: flavin adenine dinucleotide (FAD)-dependent amine oxidases and α-ketoglutarate-dependent hydroxylases. (wikipedia.org)
  • 2) The 2nd year, the epigenetic regulators (DNA methylation and histone acetylation) and related mechanisms will be studied in mouse embryo in responses to hypoxia condition. (tmu.edu.tw)
  • Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)