• We examined a deletion/insertion promoter polymorphism of the serotonin transporter gene, which confers an approximately 40% reduction in expression of the protein, in 196 subjects with late onset Alzheimer's disease (AD) and 271 controls. (ox.ac.uk)
  • To investigate whether the interindividual variation in CYP3A4 levels can be partly explained by genetic polymorphism, we analyzed DNA samples from 102 Chinese subjects by polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis for novel point mutation in the CYP3A4 coding sequence and promoter region. (aspetjournals.org)
  • Patients and controls were genotyped for the A/C polymorphism at position −863 of the TNF-α gene promoter region. (molvis.org)
  • Objective The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)
  • METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
  • We assign transcription initiation sites to 7691 protein-coding genes and find that they display features typical of eukaryotic promoters. (nih.gov)
  • In addition, HBV polymerase could inhibit the transcriptional activity of other IFN-stimulated response element-driven promoters and the expression of interferon-stimulated genes (ISGs), such as Stat1 and ISG15. (edu.au)
  • Moreover, replication ensures that genetic information stays consistent and the life story written in our genes continues for another generation. (aboutdarwin.com)
  • The interesting possibility that transcriptional interference can occur between eukaryotic genes was raised by studies on the avian leukosis retrovirus (ALV) which showed that deletion of the promoter in the 5' long terminal repeat (LTR) activates the 3' LTR promoter, linked to a downstream gene. (ox.ac.uk)
  • This letter extends these findings to chromosomal RNA polymerase II genes by studying transcriptional interference between duplicated alpha-globin gene constructions. (ox.ac.uk)
  • 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)
  • 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)
  • Along with the complex arrangement of genetic material in a cell's nucleus, human genes also demonstrate their own unique organization. (jove.com)
  • A strand of DNA is comprised of genes and intergenic regions. (jove.com)
  • Pedigrees are also employed by researchers trying to determine certain genes causing human genetic disorders. (env-net.org)
  • We therefore generated mice carrying an affinity-tagged E2A knock-in allele to provide a system for the direct elucidation of E2A target genes based on E2A binding to target regulatory regions. (duke.edu)
  • Significant E2A binding was detected at the promoters and enhancers of several essential B-lineage genes, including the Igkappa intronic and 3' enhancers, lambda5 and VpreB surrogate light chain promoters, the EBF locus promoter region, and the mb-1 (Igalpha) promoter. (duke.edu)
  • Indeed, FANTOM5's survey of 95 percent of protein-coding genes found near universal coverage by promoters, based on the first few bases of RNA transcripts. (evolutionnews.org)
  • FANTOM5 extends the third and fourth FANTOM atlases by including 4,721 human and 5,127 mouse genes, focusing on primary cells, cell lines and tissues, but that's not all: "The atlas also detected signals from the promoters of short RNA primary transcripts, and long non-coding RNAs . (evolutionnews.org)
  • To round out this conclusion of widespread function in coding genes, a study conducted at UC Berkeley found more evidence of function in non-coding regions of plants. (evolutionnews.org)
  • The initiation of transcription and modulation of gene expression in eukaryotic genes is directed by a variety of DNA sequence elements collectively arranged in a larger sequence called promoter. (allindianpatents.com)
  • The minimal promoter or core promoter is a minimal stretch of contiguous DNA sequence that is sufficient to direct accurate initiation of transcription by RNA [Pol II machinery, Smale, S. T, genes dev 15, 2503-2508 2001]. (allindianpatents.com)
  • Genetic crosses using either individual mutants or barcoded single-sex pools showed that for most genes, fertility was sex-specifically affected precisely as predicted by reporter expression. (pberghei.eu)
  • These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • We show that the enzyme can protect from DNAase I digestion a region of at least 85 bp of the wild-type tyrT promoter and only ∼62 bp of the lacUV5 mRNA promoter, the protected region extending on the antisense strand to ∼65 and 42 bp respectively upstream of the transcription startpoint. (dundee.ac.uk)
  • There is an emerging consensus that RNA polymerase II (RNA Pol II) transcription and pre-mRNA processing are tightly coupled events. (ox.ac.uk)
  • An enzyme called RNA polymerase "reads" the DNA template strand and creates the mRNA. (lecturio.com)
  • After initiating transcription, the RNA polymerase elongates the newly forming mRNA until it reaches a termination sequence. (lecturio.com)
  • When the RNA polymerase reaches the end of the gene, it stops transcription and releases the newly synthesized RNA molecule, which can then be modified and processed to become a functional RNA molecule such as messenger RNA (mRNA), transfer RNA (tRNA), ribosomal RNA (rRNA), and so on. (scienceaplus.com)
  • This processing is commonly modelled by permitting mRNA to be transcribed only when the promoter is in the on state. (cnrs.fr)
  • The results also suggest that some form of coupling between the promoter and a rate-limiting step in transcription may explain the cell's inability to maintain high mRNA levels at low noise-a prediction of the on/off model that has no supporting evidence. (cnrs.fr)
  • During transcription, an enzyme called RNA polymerase recognizes specific sequences in the DNA known as promoter regions and binds to them. (scienceaplus.com)
  • RNA polymerase is the enzyme that transcribes RNA from DNA and binds DNA at promoter regions. (wepapers.com)
  • In this study, we explore the regulatory role of mutations occurring in distal regulatory elements related to gene expression and phenotypic variations with adapted long-read ChIA-PET, and construct high-resolution chromatin interaction maps of maize promoter proximal regions and distal regulatory elements associated with RNA polymerase II occupancy and histone mark H3K4me3. (nature.com)
  • 2004 ) Genetic evidence for pre-recruitment as the mechanism of transcription activation by SoxS of Escherichia coli: the dominance of DNA binding mutations of SoxS. (academictree.org)
  • Introduction DNA microarrays are powerful tools for analysing gene expression patterns, detecting DNA mutations, and identifying genetic variations. (tutorialspoint.com)
  • Muscular dystrophy describes a number of genetic mutations that result in a loss of muscle mass. (env-net.org)
  • The dissertation topic focused on genetic patterns in Drosophila embryos and the various mutations that can occur throughout development (Resnik 2012). (wepapers.com)
  • The structure and function of mutations and how they alter genetic traits. (submityourpapers.com)
  • Here we find that the RalR (type I), MqsR (type II), GhoT (type V), and Hha (type VII) toxins are inactivated primarily by a mutation that inactivates the toxin promoter or via the chromosomal mutations iraM and mhpR. (preprints.org)
  • Mutations in highly conserved regions of the TM domain have been reported. (preprints.org)
  • [ 2 ] The genetic defect in cartilage-hair hypoplasia has been confirmed to be mutations in the RMRP gene. (medscape.com)
  • Kavadas et al reported that mutations in the promoter region are associated with immune defects. (medscape.com)
  • [ 15 ] The second consists of single nucleotide substitutions and other changes that involve at most 2 nucleotides in highly conserved regions of the gene.These are considered leaky mutations and result in variable expression of the gene, which may explain the variable phenotype seen in cartilage-hair hypoplasia. (medscape.com)
  • Screening tests do not screen for all possible mutations, and several types screen for just a few of the more common genetic mutations. (medscape.com)
  • For example, approximately 95% of rifampin-resistant M. tuberculosis strains carry mutations within the rifampin-resistance determining region (RRDR), an 81-bp region encoding codons 507 through 533 of the rpoB gene. (cdc.gov)
  • Molecular genetic tests for detecting drug-resistance are, in general, just a variation of nucleic acid amplification (NAA) tests and can reliably provide information on the presence of mutations associated with drug resistance in 1 to 2 days. (cdc.gov)
  • 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)
  • Promoter-methylation status of CDKN2B (P15 ink4b), CDH1 and HIC1 was examined pre-induction, in CR and 6, 12 and 24 months post CR. (ox.ac.uk)
  • The mechanisms underlying the impact of lifestyle on body weight are complicated, with probable causative pathways involving genetic changes such as DNA methylation. (besthealthtale.com)
  • The aim of this study was to evaluate the association of HTR2A gene promoter methylation levels in white blood cells (WBC) with obesity traits and depressive symptoms in individuals with metabolic syndrome (MetS) enrolled in a behavioural weight loss programme. (ox.ac.uk)
  • At baseline, DNA from WBC was isolated and cytosine methylation in the HTR2A gene promoter was quantified by a microarray approach. (ox.ac.uk)
  • An updated nonpathogenic H5N1 the public health response to the outbreak: 1) What is the reference virus, lacking the polybasic cleavage site in the hemagglutinin gene, was produced by reverse genetics in genetic diversity of H5N1 viruses involved in human infec- anticipation of the possible need to vaccinate humans. (cdc.gov)
  • To study the molecular mechanism(s) of the inhibition of MyD88 expression by HBV, MyD88 promoter reporter plasmids and vectors expressing different HBV viral proteins were constructed. (edu.au)
  • These individual regions, scattered throughout the genome, differ in metabolism and confer many different proteins and enzymes that contribute to the diversity in the bacteria. (kenyon.edu)
  • Since this RNA will be used to generate proteins, exons are denoted as coding regions, whereas introns are another example of non-coding material. (jove.com)
  • Proteins called repressors bind to these regions, preventing polymerase-promoter association, inhibiting transcription. (jove.com)
  • Additional proteins, known as transcription factors, are required for the RNA polymerase to bind to the promoter sequence in eukaryotes. (lecturio.com)
  • DNA contains the genetic information needed to direct the synthesis of proteins, which are the workhorses of the cell, performing a variety of functions such as structural, catalytic, regulatory, and others. (scienceaplus.com)
  • DNA is the molecule that encodes the genetic instructions enabling a cell to produce the thousands of proteins it typically needs. (evolutionnews.org)
  • The activation of the core promoter is done by the additional sequence of regulatory DNA sequence elements to which various proteins bind and subsequently interact with the transcription initiation complex to activate gene expression. (allindianpatents.com)
  • 2012 ) Transcription activation by Escherichia coli Rob at class II promoters: protein-protein interactions between Rob's N-terminal domain and the σ(70) subunit of RNA polymerase. (academictree.org)
  • 2011 ) Genetic evidence for a novel interaction between transcriptional activator SoxS and region 4 of the σ(70) subunit of RNA polymerase at class II SoxS-dependent promoters in Escherichia coli. (academictree.org)
  • 2004 ) Novel protein--protein interaction between Escherichia coli SoxS and the DNA binding determinant of the RNA polymerase alpha subunit: SoxS functions as a co-sigma factor and redeploys RNA polymerase from UP-element-containing promoters to SoxS-dependent promoters during oxidative stress. (academictree.org)
  • The four-subunit negative elongation factor (NELF) complex mediates RNA polymerase II (Pol II) pausing at promoter-proximal regions. (bvsalud.org)
  • Directed elongation from an upstream enhancer toward a downstream gene could potentially deliver RNA polymerase II to a proximal promoter, or alternatively might function directly as a distal promoter. (nih.gov)
  • Here, we characterize epigenetic features of active promoter proximal regions and candidate distal regulatory elements to construct high-resolution chromatin interaction maps for maize via long-read chromatin interaction analysis by paired-end tag sequencing (ChIA-PET). (nature.com)
  • The maps indicate that chromatin loops are formed between regulatory elements, and that gene pairs between promoter proximal regions tend to be co-expressed. (nature.com)
  • Many promoter proximal regions are involved in chromatin loops with distal regulatory elements, which regulate important agronomic traits. (nature.com)
  • The resulting maps are analyzed to identify and assess the roles of promoter proximal-proximal interaction (PPI) and proximal-distal interaction (PDI). (nature.com)
  • These short regulatory elements are located at a varying distance from transcription start point, some regulatory elements (called proximal elements) are adjacent to core promoter while other elements can be positioned several kilobases upstream or downstream of the promoter (enhancers). (allindianpatents.com)
  • RNA polymerase attaches to the DNA at a particular area known as the promoter region. (env-net.org)
  • Transcription begins at a region known as the promoter. (lecturio.com)
  • However, these intergenic regions carry important elements that regulate gene activity, for instance, the promoter where transcription starts, and enhancers and silencers that fine-tune gene expression. (jove.com)
  • Low levels of E2A binding were observed at several other lymphoid-restricted regulatory regions including the Ig heavy chain (IgH) intronic enhancer, the IgH 3' enhancers hs3b/hs4, the RAG-2 enhancer, and the 5' regions of the B29 and TdT loci. (duke.edu)
  • Strikingly, the majority of initiation events occur in regions with enhancer-like chromatin signatures. (nih.gov)
  • Chromatin structure is dynamic, adopting a more condensed conformation at transcriptionally silent regions (closed chromatin) than at transcriptionally active regions (open chromatin) ( 6 ). (asm.org)
  • Active and silent rDNAs have distinct chromatin states at the promoter and within the transcribed region. (asm.org)
  • 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)
  • Densely packed and inactive region of chromatin and stains dark. (bankofbiology.com)
  • Transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C/T allele was determined in vitro . (frontiersin.org)
  • We demonstrated that transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C allele was higher than that of 5-HT 1A receptor promoter containing T allele. (frontiersin.org)
  • The transcriptional activity of 5-HT 1A receptor promoter was stimulated by 30 mW/cm 2 microwave exposure, and rs198585630 C allele was more sensitive to microwave exposure, as it showed stronger transcriptional activation. (frontiersin.org)
  • We observed gene-specific changes in histone H3 lysine 4 trimethylation (H3K4me3) at transcriptionally repressed promoters in R6/2 mouse and human HD brain. (nih.gov)
  • The RNA polymerase reads the DNA template, recognizes specific sequences known as promoter regions, and then initiates transcription. (scienceaplus.com)
  • It contains the signals for RNA polymerase machinery that initiates transcription and also modulates the level of transcription. (allindianpatents.com)
  • It can also be amplified using a procedure called the polymerase chain reaction (PCR). (env-net.org)
  • Polymerase chain reaction (PCR) was performed, and food groups, nutrient consumption, and Healthy Eating Index (HEI) scores were determined using one-week dietary records. (besthealthtale.com)
  • Sequence-specific primers with 3′ end mismatches were used to identify the presence of specific allelic variants by polymerase chain reaction (PCR) amplification. (molvis.org)
  • The RNA polymerase adds ribonucleotides to the growing RNA chain as it moves along the DNA template, guided by the complementary base pairing rules of RNA and DNA. (scienceaplus.com)
  • Provide a unique promoter region for polymerase chain reactions. (submityourpapers.com)
  • It represents an advance in an order of magnitude in the wide range of cell types and the amount of data produced per sample, and using single-molecule sequencing avoided polymerase chain reaction (PCR), digestion and cloning bias. (evolutionnews.org)
  • The DNA to investigate the polymorphisms of osteoprotegerin, obtained through the technique of polymerase chain reaction, was obtained from the blood serum of the participants. (bvsalud.org)
  • RNA polymerase then starts copying from a particular place on one strand of DNA utilising a ribonucleoside 5′-triphosphate to create the expanding chain. (pharmaguideline.com)
  • It recognizes the promoter and initiates the transcription process. (lecturio.com)
  • 2014). genetic StudieS are carried out, uSing tuMour SaMPleS froM PatientS with excellent clinical data that have been collected at a PoPulation level or internationally, to Provide unique data coMbining the Pathology, geneticS, clinical featureS, and ePideMiology of tuMourS. (who.int)
  • Among them a promoter, exons, introns, and regulatory elements, which together help to determine protein expression in a cell. (jove.com)
  • Here we show that negative elongation factor (NELF), an RNA polymerase II (Pol II) pausing factor, cooperates with TCF1 in T cell responses to cancer. (bvsalud.org)
  • Consideration of the mechanisms of elongation leads to two alternative models of the coupling between the elongating polymerase and the state of the promoter: Processivity allows polymerases to complete elongation irrespective of the promoter state, whereas coupling requires the promoter to be active to produce a full-length transcript. (cnrs.fr)
  • The intra-chromosomal plasmids make up the accessory genome located at 79 different regions. (kenyon.edu)
  • The rate of in vivo transcription from the E. coli tRNA and rRNA promoters depends on both cellular growth rate and aminoacid availability. (dundee.ac.uk)
  • 2010 ) Protein-protein interactions between sigma(70) region 4 of RNA polymerase and Escherichia coli SoxS, a transcription activator that functions by the prerecruitment mechanism: evidence for "off-DNA" and "on-DNA" interactions. (academictree.org)
  • 2006 ) Inhibition of Lon-dependent degradation of the Escherichia coli transcription activator SoxS by interaction with 'soxbox' DNA or RNA polymerase. (academictree.org)
  • CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)
  • Genetic polymorphisms lead to individual differences. (frontiersin.org)
  • Results Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)
  • Conclusion No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)
  • DNA, a double-stranded molecule, is the primary genetic material directly responsible for development and inheritable traits. (aboutdarwin.com)
  • They are required to release the RNA polymerase from the template DNA strand and the RNA molecule is modified to remove the extra nucleotides along with certain unwanted sections of the RNA strand. (env-net.org)
  • The molecule DNA is the repository of heritable genetic information. (lecturio.com)
  • The molecule provides the basic template for replication of genetic information, RNA transcription, and protein biosynthesis to promote cellular function and survival. (lecturio.com)
  • The RNA molecule transports a copy of the genetic information from the DNA to the ribosomes, which are the cellular structures responsible for protein synthesis. (scienceaplus.com)
  • A primary transcript is an RNA molecule produced during transcription that is a copy of the genetic information stored in the DNA. (scienceaplus.com)
  • It is likely therefore that HSP70-1 promoter allele B is associated with susceptibility to RA. (elsevierpure.com)
  • Key to the organization of an individual gene is its promoter, to which machinery, especially RNA polymerase, can attach. (jove.com)
  • RNA is necessary to act as a messenger because it serves as a bridge between the genetic information stored in DNA and the protein synthesis machinery of the cell. (scienceaplus.com)
  • Introduction Retrotransposons are genetic elements that are capable of replicating and inserting themselves into different parts of the genome. (tutorialspoint.com)
  • HBV is characterized by a genetic heterogeneity and 8 genotypes (A to H) can be classified based on comparison of complete HBV genomes and according to the criterion of ≥ 8% differences in the complete nucleotide sequence of the viral genome [4-6]. (who.int)
  • The FANTOM5 promoter atlas is a natural extension of earlier maps of active transcripts and promoters complementing the sequencing of mammalian genomes. (evolutionnews.org)
  • Further study demonstrated that the HBV polymerase protein inhibited the Stat1 nuclear translocation induced by IFN-alpha, but did not induce Stat1 degradation nor interfere with its phosphorylation. (edu.au)
  • Briefly put, both DNA (Deoxyribonucleic Acid) and RNA (Ribonucleic Acid) carry genetic information of all life forms guiding their biological functions. (aboutdarwin.com)
  • Some antigen (HbeAg) and antibody to HbeAg regions are characterized by a prevalence (anti-HBe) seroconversion [ 7 - 12 ]. (who.int)
  • A mutant tyrT promoter, tyrTp27, is protected more extensively, RNA polymerase interactions extending to at least ∼-130. (dundee.ac.uk)
  • She along with one another graduate student, Bertold Heyden, studied the promoter structure by identifying the RNA polymerase binding site from fd phage. (wepapers.com)
  • Toxin/antitoxin (TA) systems are used primarily to inhibit phage, reduce metabolic activity during stress, and maintain genetic elements. (preprints.org)
  • In addition to these basic issues concerning leukemia pathogenesis, we are devising new diagnostic procedures for detecting and monitoring leukemia patients based on molecular genetic abnormalities in the malignant cells. (stanford.edu)
  • The distribution of HSP70-1 promoter alleles was studied in 90 adult Caucasian RA patients (65 European and 25 Asian Indian) and 113 normal controls (60 European and 53 Asian Indian). (elsevierpure.com)
  • The pathologies of numerous retinal degenerative diseases can be attributed to a multitude of genetic factors, and individualized treatment options for afflicted patients are limited and cost-inefficient. (justia.com)
  • The mutation was at first identified in a heterozygous GS patient, but then it was associated both with "prolonged unconjugated hyperbilirubinemia" [ 3 ] and with CNS II (with the G71R variant or the promoter variant c.-40_-39insTA) [ 10 ]. (biomedcentral.com)
  • The genetic defect in cartilage-hair hypoplasia has been identified as a mutation in the gene for RNAase RMRP, mapped to 9p12. (medscape.com)
  • To investigate the molecular mechanisms involved we determined the extent of interaction of RNA polymerase with the promoter of the tyrT stable RNA gene. (dundee.ac.uk)
  • These observations provide a molecular explanation for the fact that insertional oncogenesis by the ALV promoter is invariably associated with either a rearranged or deleted 5' LTR sequence. (ox.ac.uk)
  • Promoters were characterized by her describing the molecular process behind transcription activation. (wepapers.com)
  • The course plot for the saga of replication involves an array of characters, including enzymes like DNA polymerase, working tirelessly as diligent scribes, replicating each chapter accurately from the DNA template. (aboutdarwin.com)
  • A type of RNA polymerase, it sets the starting point for replication by adding small RNA primers. (aboutdarwin.com)
  • Genetic association studies aimed at defining susceptibility to POAG may provide important insights into the pathogenesis of POAG. (molvis.org)
  • Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. (lookformedical.com)
  • These processes are responsible for genetic continuity and protein synthesis, enabling life as we know it. (aboutdarwin.com)
  • A copy of the DNA gene that carries genetic information from the nucleus to the ribosome, where it serves as a template for protein synthesis. (scienceaplus.com)
  • activating initiation by polymerase bound at the primary binding site and increasing the concentration of polymerase in the vicinity of the tyrT promoter, thus allowing a high rate of maximal expression and enabling the promoter to be regulated over a wide range of activity. (dundee.ac.uk)
  • Genetic pathways to primary and secondary glioblastomas. (who.int)