• Here, we present evidence that the promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MER41 HERVs. (biorxiv.org)
  • Moreover, we have not found such a significant enrichment in the promoter regions of genes that associate with autism spectrum disorder (ASD) or schizophrenia. (biorxiv.org)
  • Interestingly, ID-associated genes exhibit promoter-localized MER41 LTRs that harbor TF binding sites (TFBSs) for not only STAT1 but also other immune TFs such as, in particular, NFKB1 (Nuclear Factor Kappa B Subunit 1) and STAT3 (Signal Transducer And Activator Of Transcription 3). (biorxiv.org)
  • Of note, functionally-relevant differences between humans and chimpanzees are observed regarding the 3 main components of this pathway: i) the protein sequences of immunes TFs binding MER41 LTRs, ii) the insertion sites of MER41 LTRs in the promoter regions of ID-associated genes and iii) the protein sequences of the targeted ID-associated genes. (biorxiv.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)
  • In spite of the importance of this tissue in the quality and production of pollen grains, studies on promoter gene regulation of tapetal expressed genes are very few and there are no reports on specific cis regulatory sequences that control tapetal gene expression. (tamu.edu)
  • Nucleic acid sequences involved in regulating the expression of genes. (lookformedical.com)
  • Promoters of housekeeping genes contain built-in activating motifs for factors such as GABPA and YY1, which decrease the responsiveness of promoters to distal enhancers. (nature.com)
  • Promoters of variably expressed genes lack these motifs and show stronger responsiveness to enhancers. (nature.com)
  • Fig. 4: Promoter classes correspond to enhancer responsive versus ubiquitously expressed genes. (nature.com)
  • Comparison with the homologous region of other fibrillar collagen genes has confirmed the existence of a consensus sequence (CATGTCTA-n-TAGACATG) capable of forming a hairpin secondary structure possibly involved in the regulation of collagen biosynthesis. (cornell.edu)
  • Sequence comparison of the chromosomal regions at the 5' end of the pro alpha 1(I) and pro alpha 2(I) collagen genes failed to identify unique DNA elements potentially mediating common regulatory signals. (cornell.edu)
  • CreA/CRE1 binds to the promoters of the respective target genes via the consensus motif 5'-SYGGRG-3', whose function in vivo has been shown both in Aspergillus nidulans and Trichoderma reesei [ 9 - 12 ]. (biomedcentral.com)
  • They contain genes encoding proteins that help the bacteria to digest those compounds that are not commonly present in nature, such as xylene, camphor, toluene, and salicylic acid. (excedr.com)
  • F3 contains 770 variants as a validation set including 70 SNVs in 'positive' set in non-coding regions of protein-coding genes newly reported and 700 randomly sampled common human variants, matched per type of region to the 'positive' set. (lu.se)
  • Therefore variations in the expression of these genes due to heritable genetic polymorphisms might modulate the process of carcinogenesis by altering the exposure levels of tobacco derived carcinogens. (bvsalud.org)
  • For the hybridization assays, the region of the target gene associated with resistance is PCR amplified, and the labeled PCR products hybridized to oligonucleotide probes immobilized on a nitrocellulose strip or in a microarray. (cdc.gov)
  • We add tumor necrosis factor α to primary human cells, switch on transcription of a 221-kb gene and monitor promoter position during the ensuing transcription cycle (using RNA fluorescence in situ hybridization coupled to super-resolution localization, chromosome conformation capture and Monte Carlo simulations). (ox.ac.uk)
  • Most parvoviruses contain a transcriptional activation domain near the C-terminus that upregulates transcription from viral promoters as well as alternate or overlapping open reading frames that encode a small number of supporting proteins involved in different aspects of the viral life cycle. (wikipedia.org)
  • A method for determining points of contact between interacting proteins or binding sites of proteins to nucleic acids. (lookformedical.com)
  • Protein cleavage is inhibited where the proteins, or nucleic acids and protein, contact each other. (lookformedical.com)
  • Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. (lookformedical.com)
  • Deoxyribonucleic acid (DNA) is a nucleic acid that encodes the information that cells need to produce proteins. (pharmaguideline.com)
  • Each RNA polymerase requires the assistance of several other proteins or protein complexes, called general (or basal) transcription factors, which must assemble into a complex on the promoter in order for RNA polymerase to bind and start transcription. (stemcelldaily.com)
  • It seems that not until the technologies for working with nucleic acids and proteins are better integrated will their researchers be more connected than they are now. (genomicglossaries.com)
  • 2014 ). Different HDACs interact with different sets of proteins and form distinct HDAC protein complexes, which function differently in terms of the histone and lysine sites being modified, the targeted genomic regions, and the associated biological effects (Jeon et al. (biomedcentral.com)
  • In silico analyses and mRNA half-life determinations linked insertions of nucleotide repeats 3' to the -10 motif of the norA promoter with increased promoter activity. (manchester.ac.uk)
  • Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. (lookformedical.com)
  • In one embodiment, the nucleic acid comprises a nucleotide sequence having at least a portion of the sequence selected from the group consisting of SEQ ID NO: 1, SEQ ID NO: 41, and SEQ ID NO: 43. (justia.com)
  • The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. (lookformedical.com)
  • In one embodiment, the present invention relates to a recombinant protein having a protein comprising at least a portion of the amino acid sequence set forth in SEQ ID NO:2. (justia.com)
  • In some embodiments, the present invention provides a protein which consists of the amino acid sequence shown in SEQ ID NO: 2 having a deletion, substitution, or addition of at least one amino acid and which has neurogenesis inducing activity. (justia.com)
  • The present invention also relates to a gene which hybridizes with the neurogenesis inducing gene encoding for a protein comprising at least a portion of the amino acid sequence set forth in SEQ ID NO:2. (justia.com)
  • In another embodiment, the present invention relates to an isolated nucleic acid encoding a protein having at least a portion of the amino acid sequence selected from the group consisting of SEQ ID NO: 2, SEQ ID NO: 42 and in SEQ ID NO: 44. (justia.com)
  • Our data also suggest that the functional activity of a given kappaB site depends on the entire DNA sequence context in the promoter region. (ox.ac.uk)
  • To further analyse the promoter of this receptor gene, additional upstream sequence information extending to -5.5 kb of the murine htr1a was generated and promoter fragments extending to -20 kb were analysed for activity in cell culture and transgenic animals. (ox.ac.uk)
  • The target DNA sequence for resolution of poxvirus replicative intermediates is an active late promoter. (ox.ac.uk)
  • The terminal sequence domain which forms the telomere resolution target (TRT) shares considerable sequence similarity with viral late promoters. (ox.ac.uk)
  • Further support for this concept comes from the demonstration that a late SFV promoter sequence designated cryptic TRT, which differs substantially from the native TRT in terms of sequence, can support telomere resolution when placed in the correct spatial context. (ox.ac.uk)
  • We also show that sequence elements that direct 3'-end formation of the A. lumbricoides trans- spliced leader RNA function when RNA synthesis is initiated from the U1 promoter. (cshl.edu)
  • The most-extensively studied core promoter element in eukaryotes is a short DNA sequence known as a TATA box, found 25-30 base pairs upstream from the start site of transcription. (stemcelldaily.com)
  • Most promoters for RNA polymerase II also have a conserved sequence called the TATA box, which is recognized by a subunit of the transcription factor TFIID. (stemcelldaily.com)
  • 87(5): 1663-1667] Specifically, the investigators started by priming whole cerebellar RNA with a synthetic oligonucleotide containing a T7 RNA polymerase promoter sequence. (genomicglossaries.com)
  • 4462 functional sequence variations in regulatory DNA regions in training dataset F1 and 1116 functional SNVs in test datasets F2. (lu.se)
  • However, the relevance of homologous sites in the human TNF gene remained a matter of controversy, partly because the high affinity NF-kappaB/Rel site located at -510 in the murine promoter is not conserved in humans. (ox.ac.uk)
  • A functional model is presented in which IHF favors the contact between the TodT activator, bound further upstream, and the alpha-subunit of RNA polymerase bound to the downstream promoter element. (nih.gov)
  • Transcription is the process of copying genetic information from DNA into RNA, especially mRNA, by the enzyme RNA polymerase. (stemcelldaily.com)
  • Other transcription factors and RNA polymerase then assemble on the promoter to form a pre-initiation complex (PIC). (stemcelldaily.com)
  • The nomenclature of different promoter-associated RNA polymerase II (Pol II) species is explicitly defined in an effort to provide consistency in future literature. (nature.com)
  • Recent years have witnessed a sea change in our understanding of transcription regulation: whereas traditional models focused solely on the events that brought RNA polymerase II (Pol II) to a gene promoter to initiate RNA synthesis, emerging evidence points to the pausing of Pol II during early elongation as a widespread regulatory mechanism in higher eukaryotes. (nature.com)
  • An RNA polymerase has been thought to transcribe by seeking out a promoter, initiating and then tracking down the template. (ox.ac.uk)
  • Results are consistent with a polymerase immobilized in a 'factory' capturing a promoter and reeling in the template, as the transcript and promoter are extruded. (ox.ac.uk)
  • However, the degree to which human enhancers and promoters are intrinsically compatible has not yet been systematically measured, and how their activities combine to control RNA expression remains unclear. (nature.com)
  • In addition, two classes of enhancers and promoters show subtle preferential effects. (nature.com)
  • Fig. 3: Compatibility classes of enhancers and promoters. (nature.com)
  • It is because of the complexity of transcriptional events, which may be a mixture of epigenetic regulation and genetic control on function regions (e.g., enhancers and promoters). (aporc.org)
  • A plasmid can transfer the desired piece of nucleic acid to the target location to cure mutation-driven diseases, such as cancer. (excedr.com)
  • Environmental carcinogens and certain other endogenous factor (genetic alteration and mutation) interacting in a complex manner can give rise to development of cancer. (bvsalud.org)
  • Mutation in the cellular machinery controlling growth or differentiation is an example of the type of genetic change that occurs in initiation 5 . (bvsalud.org)
  • We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)
  • Integration host factor (IHF) plays a crucial role in the activation process and binds between the upstream TodT boxes and the -10 hexamer region. (nih.gov)
  • Two independently regulated promoters control utrophin expression and the upstream promoter (promoter A) is synaptically regulated in muscle. (ox.ac.uk)
  • Myogenic induction mapped to a conserved upstream muscle-specific E-box, which was shown to bind myogenic regulatory factors, transactivating the promoter up to 18-fold in transient assays. (ox.ac.uk)
  • A similar kind of nucleic acid, known as ribonucleic acid (RNA), is found in various molecular forms and is involved in the process of protein synthesis. (pharmaguideline.com)
  • Others, like Transfer ribonucleic acid (tRNAs), play an essential role in protein synthesis, while Messenger RNA (mRNAs) drive protein synthesis via the ribosome. (pharmaguideline.com)
  • This region was characterized by mutagenesis of protein binding sites, including two relatively low affinity NF-kappaB/Rel sites, #2 and 2a. (ox.ac.uk)
  • CONCLUSION: This indicates that epigenetic changes affect the expression of the Smad4 protein in prostate cancer and points to methylation of the promoter as a novel marker of and contributor to the disease warranting further study. (ox.ac.uk)
  • To accomplish this, the transcriptional unit is preceded by regulatory elements, such as promoters and enhancers, that modulate production of its protein encoding transcript ( Figure 1.2 ). (ernolaszlo.com)
  • In an established line of rat fibroblasts (Rat-2), the more distal myc promoter (P2) is the preferred site of initiation. (lu.se)
  • Here we used two sets of similarly designed human and mouse TNF promoter deletion constructs and overexpression of IkappaB in the murine macrophage cell line ANA-1 to show remarkable similarity in the pattern of the transcriptional response to LPS, further demonstrating the functional role of the distal promoter region located between -600 and -650. (ox.ac.uk)
  • Gene regulation in the human genome is controlled by distal enhancers that activate specific nearby promoters 1 . (nature.com)
  • In contrast to LPS activation, the response to PMA was substantially lower in magnitude and required only the proximal promoter region. (ox.ac.uk)
  • Previous studies of the murine htr1a have revealed that its proximal promoter is GC rich and TATA-less. (ox.ac.uk)
  • Caricasole, AA & Ward, A 1993, ' Transactivation of mouse insulin-like growth factor II (IGF-II) gene promoters by the AP-1 complex ', Nucleic Acids Research , vol. 21, no. 8, pp. 1873-9. (bath.ac.uk)
  • In this study we demonstrate that the TRT of SFV is capable of functioning as a strong viral promoter late in infection. (ox.ac.uk)
  • This allowed us to determine that the heparan sulfate pathway and the conserved oligomeric Golgi complex are key determinants allowing entry of both dsRNA and viral nucleic acid leading to cell death. (cnrs.fr)
  • The highest degrees of colocalization were observed in mice harbouring the 20-kb construct, suggesting a large promoter fragment is required to faithfully direct transgene expression in a 5-HT(1A) receptor like pattern. (ox.ac.uk)
  • In persons with autosomal dominant DKC and in terc-/- knockout mice, genetic anticipation (ie, increasing severity and/or earlier disease presentation with each successive generation) has been reported. (medscape.com)
  • van Arensbergen, J., van Steensel, B. & Bussemaker, H. J. In search of the determinants of enhancer-promoter interaction specificity. (nature.com)
  • RESULTS: We fail to find evidence of genomic deletions or amplifications affecting the Smad4 locus on chromosome 18 but show a correlation between promoter methylation and the loss of Smad4 expression in the same material. (ox.ac.uk)
  • Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. (ox.ac.uk)
  • Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility. (ox.ac.uk)
  • Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. (lookformedical.com)
  • This white paper will first provide a brief refresher on the central paradigm of molecular biology, the rigorously controlled process by which genetic information flows within cells and biological systems. (ernolaszlo.com)
  • Acid-fast bacilli (AFB) smear and culture using sputum obtained from the patient. (medscape.com)
  • Pausing is now recognized to be a pervasive feature of promoters in mammals and Drosophila melanogaster , and the evidence supporting this from genome-wide studies is presented. (nature.com)
  • Similarities and differences between human and murine TNF promoters in their response to lipopolysaccharide. (ox.ac.uk)
  • In summary, the functional topography of human and murine promoters when assayed in the same system has some marked similarities. (ox.ac.uk)
  • Analysis of the murine 5-HT receptor gene promoter in vitro and in vivo. (ox.ac.uk)
  • A conserved TCGTGT motif was identified in the TAPNAC promoter and other tapetal expressed promoters. (tamu.edu)
  • The TCGTGT motif enhances GUS expression in anthers of transgenic plants but only in the context of the TAPNAC promoter proximal region. (tamu.edu)
  • Lis, J. Promoter-associated pausing in promoter architecture and postinitiation transcriptional regulation. (nature.com)
  • We have developed a new regulatable TET OFF bicistronic system, which allowed us to rule out the possibility of any cryptic promoter in the FGF-1 leaders. (cnrs.fr)
  • Mutations in the 5'-untranslated and/or coding regions were identified that may affect transcription efficiency. (manchester.ac.uk)
  • 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)
  • 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)
  • A cis regulatory element in the TAPNAC promoter directs tapetal gene expression. (tamu.edu)
  • The TAPNAC promoter was studied in detail to identify cis regulatory sequences that confer tapetal specific expression. (tamu.edu)
  • Here we design a high-throughput reporter assay called enhancer × promoter self-transcribing active regulatory region sequencing (ExP STARR-seq) and applied it to examine the combinatorial compatibilities of 1,000 enhancer and 1,000 promoter sequences in human K562 cells. (nature.com)
  • Mendelian regulatory variations including 42 enhancer, 142 promoter, 153 5' UTR, 43 3' UTR, 65 RNA gene, 3 imprinting control region, and 5 microRNA gene variations. (lu.se)
  • The Nucleic acid metabolism consists of the DNA metabolism in which there are three main processes, i.e. (pharmaguideline.com)
  • It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components. (lecturio.com)
  • Expression of a reporter gene, whose transcription was driven by a 1.3 kb promoter A fragment, paralleled expression of the endogenous transcript. (ox.ac.uk)
  • Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes. (lookformedical.com)
  • Transcription in eukaryotes is the elaborate process that eukaryotic cells use to copy genetic information stored in DNA into units of transportable complementary RNA replica. (stemcelldaily.com)
  • Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition. (ox.ac.uk)
  • The identified epigenetic regulation and genetic variation will be validated by CRISPR and TALE-TET1 genome editing techniques. (aporc.org)
  • TodS transphosphorylates TodT, which binds to two highly similar DNA binding sites at base pairs -107 and -85 of the promoter. (nih.gov)
  • Mutational analysis indicates these sites are required for AP-1 responsiveness and full promoter activity. (bath.ac.uk)
  • Furthermore, plasmids are also regarded as mobile genetic elements and the process of their transmission of genetic material, through conjugation, is a type of mechanism of horizontal gene transfer. (excedr.com)
  • The common components present in all man-designed plasmids are the origin of replication, selection marker, antibiotic resistance gene, promoter region, primer binding sites, and cloning site. (excedr.com)
  • Together, this systematic assessment of enhancer-promoter compatibility suggests a multiplicative model tuned by enhancer and promoter class to control gene transcription in the human genome. (nature.com)
  • The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children. (edu.au)
  • ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning. (lu.se)
  • Polymorphic genotypes of these enzymes may serve as genetic biomarkers for susceptibility to certain malignancies and therefore may help predict individual cancer risk 8 . (bvsalud.org)
  • Recent studies have revealed an extensive superfamily of UDP-glucuronosyltransferases (UGTs), 2 previously termed glucuronyl transferases, which catalyze the conjugation of UDP-glucuronic acid with lipid-soluble substrates to form polar conjugates that are excreted in the urine and feces. (aspetjournals.org)
  • The UGT content of cells and tissues is a major determinant of our response to those chemicals that are primarily eliminated by conjugation with glucuronic acid. (aspetjournals.org)