• This important work substantially advances our understanding of the interplay between genetic variation, chromatin, and genes within topologically associated domains and how this interplay regulates gene expression. (elifesciences.org)
  • It has been demonstrated that the bolting and flowering signals from internal or external factors usually converge on a few integrator genes which serve as flowering inducers or repressors during floral transition. (frontiersin.org)
  • 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)
  • Our analysis yielded a critical cluster of 10 genes that were each significantly methylated and had variants at the CpG site or the ±4 bp CpG region window. (fortuneonline.org)
  • The genome sequences of many species are becoming available, as well as the genetic variation within a species, and the activity of the genes in a genome under various conditions. (wur.nl)
  • Intrigued by anecdotal evidence that duplication of bacterial promoters can activate or silence genes, we investigated how often promoter duplication occurs in bacterial genomes. (wur.nl)
  • In particular, we have identified that promoter CpG island hypermethylation of the genes TUSC3 (tumor suppressor candidate 3), POMT1 (protein O-mannosyltransferase 1), ATRNL1 (attractin-like 1) and SAMD4A (sterile alpha motif domain containing 4A) is linked to the transcriptional downregulation of both linear mRNA and the hosted circRNA. (oncotarget.com)
  • BTK, SYK, and LAT), which coincided with deacetylation near promoter regions of such genes. (eur.nl)
  • It is believed that the occurrence of leukemia is the result of genetic and epigenetic changes in protooncogene and tumor suppressor genes [ 8 ]. (hindawi.com)
  • We found that the acidic domain of MZF-1 and the heparin-binding domain of Elk-1 facilitate the heterodimeric interaction between the two genes before the complex formation binds to the PKCα promoter. (oncotarget.com)
  • SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)
  • and during this study the genetic characterisation of ESBLs genes was investigated. (who.int)
  • Acquisitions of OspC genes that are novel for the region confer to recipients unique identities to host immune systems and, presumably, selective advantage when immunity to existing types is widespread among hosts. (cdc.gov)
  • 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)
  • furthermore, by studying different biogeographical populations, conservation of the coding region of the MRP3 gene and variability (polymorphism) in its promoter region were found (Russo et al. (szn.it)
  • Our findings indicated that TT, as the two-single-nucleotide polymorphism haplotype in promoter region of CYP11B2 gene, is associated with plasma aldosterone concentration in the southern population of Iran. (ephysician.ir)
  • A deletion/insertion polymorphism (4G or 5G) in the promoter of the plasminogen activator inhibitor type 1 gene has been suggested to be involved in regulation of the synthesis of the inhibitor, the 4G allele being associated with enhanced gene expression. (unboundmedicine.com)
  • In conclusion, in patients with deep vein thrombosis the 4G polymorphism of PAI-1 gene promoter may influence the expression of PAI-1 and it should be taken into consideration as a facilitating condition for pathological fibrinolysis together with other environmental and genetic factors. (unboundmedicine.com)
  • In studies examining UGT family 1A variants, the "TATA" box polymorphism in the promoter region of UGT1A1, commonly associated with Gilbert's syndrome, is associated with reduced function in the UGT1A1 transcriptional promoter ( Burchell and Hume, 1999 ) and is associated with decreased formation of the glucuronide conjugate of the important procarcinogenic BaP metabolite, BaP- trans -7,8-dihydrodiol (BPD), in liver microsomes ( Fang and Lazarus, 2004 ). (aspetjournals.org)
  • This mouse population segregates millions of variants from eight inbred founders, enabling precision genetic mapping with extensive genotypic and phenotypic diversity. (elifesciences.org)
  • Our results demonstrate that statistical interactions between genetic variants and chromatin accessibility are common throughout the genome. (elifesciences.org)
  • [ 17 ] Genetic polymorphisms of the UGT1A1 promoter, specifically the T-3279G and the thymidine-adenine (TA)7 dinucleotide repeat TATAA box variants, were found to be commonly inherited in white individuals with high allele frequency. (medscape.com)
  • A fraction of the gene variants (242/24948) occurred within the CpG regions that were differentially methylated, with 67/247 exactly coincident with a CpG site. (fortuneonline.org)
  • Genetic variants with gene regulatory effects are associated with diisocyanate -induced asthma. (cdc.gov)
  • Objective: The aim of this study was to identify DA-associated functional genetic variants through next-generation sequencing (NGS), bioinformatics, and functional assays. (cdc.gov)
  • Results: NGS detected 130 risk variants associated with DA (3.1 × 10-6 to 6.21 × 10-4), 129 of which were located in noncoding regions. (cdc.gov)
  • These results demonstrate that many DA-associated genetic variants likely act by modulating gene regulation. (cdc.gov)
  • X-ray and cryo-EM image reconstructions have been used to determine the structures of AAV variants 1-9 (sometimes called "serotypes" and including viruses from two different species, Adeno-associated dependoparvovirus A and Adeno-associated dependoparvovirus B ), recombinant AAV vectors carrying foreign genetic information (rAAVs), capsid mutants, or any of the above complexed with specific antibodies, glycans or other receptors, at high resolution. (ictv.global)
  • UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)
  • Proliferation is initiated via recognition of promoter boxes residing in the tRNA-related region of the genomic "master-copy" by host-derived RNA polymerase III and eventually results in novel retrotransposed copies [ 6 ]. (biomedcentral.com)
  • Studies are generally limited to examination of individual regions or overlapping single-nucleotide polymorphisms (SNPs) and open chromatin peaks with limited investigation into how these regulatory elements combine to affect gene transcription 1 , 2 . (elifesciences.org)
  • The aim of this study was to explore potential associations between genetic polymorphisms of HMGB1 and EGFR mutations in a cohort that included 280 patients with NSCLC, some of whom were smokers and others who never smoked. (jcancer.org)
  • Here we undertake a genome-scale analysis of these interactions in a genetically diverse population to systematically identify global genetic-epigenetic interaction, and reveal constraints imposed by chromatin structure. (elifesciences.org)
  • With 176 samples profiled for genotype, gene expression, and open chromatin, we used regression modeling to infer genetic-epigenetic interactions on a genome-wide scale. (elifesciences.org)
  • These findings provide evidence that genetic and epigenetic factors operate within the context of three-dimensional chromatin structure. (elifesciences.org)
  • Yet the interacting effects that genetic and epigenetic factors produce on gene transcription are rarely studied at a genome-wide scale, leaving us without global information on a key step between the genetic code and the phenotype. (elifesciences.org)
  • Conversely, phenotypic variation in genetically diverse populations is a result of both genetic and epigenetic factors operating in tandem. (elifesciences.org)
  • The project aims to study the genetic controls and the molecular mechanisms involved in sex regulation in different species belonging to the genus Pseudo-nitzschia, by studying the genome and transcriptome of strains with different MT, also using genetic transformation, protein analysis and epigenetic analysis tools. (szn.it)
  • It was recently reported that short-term mental stress caused by maternal separation during the neonatal period alters the epigenetic status of the glucocorticoid receptor ( Gr ) promoter in the rat hippocampus, which leads to changes in gene expression. (biomedcentral.com)
  • Celiac disease genetic testing can accurately confirm whether you have a genetic predisposition to celiac disease. (easydna.lk)
  • Subsequently meat, dairy products and water serve as key vehicles in the transmission of MAP infection to humans (from farm to fork) who have a genetic predisposition, thus leading to the development of CD. (wjgnet.com)
  • Analyses of the complete genome sequences led us to analysis of the nonstructural region (i.e., genome start to identify the first sapovirus intergenogroup recombinant capsid start) grouped Mc10 and C12 together in 1 GII clus- strain. (cdc.gov)
  • Both inverted repeat sequences consist of a terminal 13 bp and internal 19 bp perfect inverted repeat that are separated by a 3 bp (5′ITR) or a 31 bp (3′ITR) spacer. (pberghei.eu)
  • In the donor plasmid the two ITR sequences are located on both sides of a drug-selectable marker cassette and a gfp expression cassette that lacks a promoter region (see Figure). (pberghei.eu)
  • SINE sequences are approximately 70-700 base pairs (bp) averaging about 250 bp [ 1 ] with most organized into an RNA gene-derived region, a di-nucleotide repeat region and terminating in a poly A or poly A/T tail [ 2 - 4 ]. (biomedcentral.com)
  • Transposable elements (TEs) are mobile genetic sequences that comprise around 50% of our genomic DNA. (lu.se)
  • research shows that about 90% of the blood system of malignant tumors with at least the height of single gene methylation is closely related since this is a reversible process of genetic modification can be through to handle to restore the normal expression of gene methylation, to achieve the purpose of prevention and treatment of tumor [ 10 ]. (hindawi.com)
  • Exposure to a tumor promoter will evoke an altered response pattern wherein initiated cells, but not the normal population, are stimulated to grow. (bvsalud.org)
  • The signal to expand clonally can be provided either by direct stimulation of the initiated cell, or as an indirect result of the effects of the tumor promoter on the adjacent normal cells. (bvsalud.org)
  • Methylation is a dynamic event, in which reversal occurs at certain sites, while progression with age causes methylation at many CpG sites in intergenic regions, such as Transcription Start Sites (TSSs) [4]. (fortuneonline.org)
  • Genetic methylation is commonly evaluated by pyro-sequencing, which is time consuming and cost ineffective. (speedwellbio.com)
  • The methylation level of the GRHL2 promoter region in acute leukemia patients and cell lines was significantly higher than the normal control group, and we found the elevated mRNA and protein levels of GRHL2 in acute leukemia cell lines after the use of the demethylation drug arsenic trioxide and 5-azacitidine. (hindawi.com)
  • Yeast one-hybrid (Y1H) experiments suggested that LsARF3 could physically interact with the LsCO promoter, which was further confirmed by a dual luciferase assay in tobacco leaves. (frontiersin.org)
  • EMSA and dual-luciferase reporter assays further confirmed that STM3 could directly bind the promoter region to activate FUL1 expression. (nature.com)
  • DNA constructs were cloned into a pGL3 promoter vector for luciferase gene reporter assays. (cdc.gov)
  • Transient over-expression of Fortune Cstps1 promoter in sweet orange showed notable GUS activity, but the Murcott Cstps1 promoter did not. (biomedcentral.com)
  • Among them, FRUITFULL1 ( FUL1 ) is downregulated in stm3cr mutants, and its promoter is bound by STM3 by ChIP-qPCR analysis. (nature.com)
  • Gene expression is known to be affected by interactions between local genetic variation and DNA accessibility, with the latter organized into three-dimensional chromatin structures. (elifesciences.org)
  • Understanding the scope and landscape of these interactions on a genome-wide scale is a vital step towards deciphering the genetic regulation of gene expression and, in turn, the mechanisms of non-coding variation on phenotypic outcomes. (elifesciences.org)
  • Direct phenotypic variation is possible by altering gene expression via insertion into coding regions or interference from the internal RNA polymerase promoters in SINEs [ 29 ]. (biomedcentral.com)
  • More so, TEs are a rich source of genetic variation, which makes them an intriguing research avenue to investigate humanspecific traits, including their impact on human brain evolution and their relevance in disease. (lu.se)
  • 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)
  • We have learned a lot more about the line-ups of both teams through recent genetic advances, although autosomal dominant (AD) Tubulointerstitial Nephritis may be the pre-match favorite due to its star performer uromodulin-associated kidney disease (UMOD) Nephropathy. (medscape.com)
  • Phylogenetic analysis of the nonstructural region ter (or genotype), while the structural region (i.e., capsid (i.e., genome start to capsid start) grouped this strain into genogroup II, whereas the structural region (i.e., capsid start to genome end) grouped Mc10 and C12 into distinct start to genome end) grouped this strain into genogroup IV. (cdc.gov)
  • These genogroups were not maintained when we analyzed the nonstructural region (i.e., genome start to capsid start). (cdc.gov)
  • All genogroups were (i.e., genome start to capsid start) and (B) the structural region supported by bootstrap values (10), except for the structur- (i.e., capsid start to genome end), showing the different al region-based grouping of GI, which had a slightly lower genogroups. (cdc.gov)
  • In this study, we constructed a series of genome-reduced strains by deleting non-essential regions in the chromosome of B. subtilis 168. (biomedcentral.com)
  • Genome-scale genetic manipulation has a variety of effects on the physiological characteristics and cell metabolism of B. subtilis . (biomedcentral.com)
  • Results The BML-275 pontent inhibitor distribution of in the genome of methods, the recent invasion of the transposon in the genome of the growing varieties, is endemic to the Sonoran Desert of North America, with different subpopulations specialised in feeding on different necrotic cactus cells and showing both genetic differentiation and reproductive isolation [28-30]. (irjs.info)
  • Reinventing potato from a clonally propagated tetraploid to a true seed-propagated diploid has the potential to considerably accelerate genetic improvement, and would enable the genome design of a crop that has been highly recalcitrant to the use of molecular breeding and genomics approaches 3 , 6 , 7 . (nature.com)
  • Our findings provide insights into the molecular and genetic mechanisms underlying inflorescence development in tomato. (nature.com)
  • Regions observed in picture: hilus, dentate granule cell layer (DGNs) and molecular layer (m.l. (elifesciences.org)
  • With all six genotypes of citrus tested including Eureka lemon, a cultivar difficult to be transformed, our results demonstrate that the kn1 gene may provide an effective molecular tool to enhance genetic transformation efficiencies of various citrus varieties. (springer.com)
  • Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
  • Like compounds from biological sources and low-molecular-weight nonoccupational asthma, occupational asthma is probably the chemicals cause occupational asthma after a latent period of result of multiple genetic, environmental, and behavioral exposure. (cdc.gov)
  • Modern genetic techniques have helped us hugely in characterizing these disorders and providing a molecular diagnosis in the face of nonspecific clinical data. (medscape.com)
  • In regions where B. burgdorferi is enzootic, sites as small as a few hectares have between 9 and 15 strains ( 4 - 6 ). (cdc.gov)
  • As we slowly untangle the regulatory mechanisms that modulate these complex genetic and environment-influenced diseases, new opportunities in an area of potentially highly specific and effective therapeutic interventions are emerging. (eur.nl)
  • oxidation modification of the genetic material may also participate in the progression of benign to malignant neoplasms. (bvsalud.org)
  • Although butyrate evoked broad histone acetylation, our data indicated that butyrate selectively regulated gene transcription in primary human mast cells and had stronger modulatory effects on only a small subset of chromatin regions. (eur.nl)
  • The work described in chapter 5 is focused on the regions in bacterial genomes that are involved in gene regulation, the promoters. (wur.nl)
  • Using the large number of bacterial genomes that are currently available, we looked for clusters of highly similar promoter regions. (wur.nl)
  • 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)
  • Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. (cdc.gov)
  • Carcinogenesis is a multistep process and individual risk to development of cancer depends not only on environmental factors or extrinsic exposure to carcinogens but also on genetic susceptibility of an individual. (bvsalud.org)
  • Factors that influence the tobacco exposed individuals developing a malignancy may thus include a combination of total tobacco exposure and genetic susceptibility of the individual 12 . (bvsalud.org)
  • 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)
  • Ca 2+ imaging and electrophysiological studies have indicated that the bulk of Ca 2+ influx in HCs occurs in hotspots located in discrete regions of the basolateral membrane. (jneurosci.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)
  • Phylogenetic analysis of (A) the nonstructural region structural region-based grouping. (cdc.gov)
  • Three binary vectors, designated as p1380-FortP-GUSin, p1380-MurcP-GUSin and p1380-MurcP(+ 12)-GUSin, were developed for promoter activity analysis. (biomedcentral.com)
  • The cis-acting elements analysis of PpCORs promoter showed that PpCOR3 contained abundant abiotic stress responsive and hormone responsive elements such as jasmonate and abscisic acid. (bioscipublisher.com)
  • We have also investigated the internal promoter of and the transposon-transposase connection. (irjs.info)
  • The helper plasmid contains the transposase under the control of the constitutive eef1a promoter and this plasmid does not contain a drug-selection cassette (see Figure). (pberghei.eu)
  • This transgenic line, TPSama1 ( RMgm-406 ), was generated using standard methods for transfection of P. berghei and the transgenic parasites contain the T. gondii dhfr/ts as a selectable marker and transposase under the control of the schizont specific ama-1 promoter (see Figure). (pberghei.eu)
  • This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
  • The effects of a maize knotted1 ( kn1) gene under the control of the cauliflower mosaic virus 35S promoter on genetic transformation efficiencies of six citrus genotypes were tested. (springer.com)
  • An efficient genetic transformation protocol is a key step for using transgenic technologies to improve citrus quality, productivity, and resistance to abiotic and biotic stresses such as HLB. (springer.com)
  • On the other hand, transgenic plants produced from mature tissue via genetic transformation can drastically shorten flowering and fruiting time and thus speed up field evaluation studies. (springer.com)
  • Until recently, in clinical genetics, epigenetics was a minor field, of which two unusual genetic phenomena (genomic imprinting and X-chromosome inactivation (XCI)) were the main aspects under investigation. (biomedcentral.com)
  • It is expected that the removal of a number of non-essential regions from a bacterial chromosome will facilitate the optimization of metabolic pathways and energy utilization by enhancing the predictability of genetic engineering, which can improve overall metabolic performance [ 7 ]. (biomedcentral.com)
  • The SCT is widespread in the WHO African Region;3 the S gene prevalence in at least 40 countries varies between 2% and 30%, resulting in high SCD-related morbidity and mortality. (who.int)
  • AAV virion structures have been studied in great detail, in part because many of these viruses are being developed as vectors for the clinical treatment of genetic disorders involving a broad range of differentiated human cell types. (ictv.global)
  • The etiology of breast milk jaundice is not clearly understood, but a combination of genetic and environmental factors may play a role. (medscape.com)
  • Although environmental and genetic factors were thought to be independently associated with disorders, several recent lines of evidence suggest that epigenetics bridges these two factors. (biomedcentral.com)
  • It now appears that epigenetics bridges the two major disease-causing factors (environmental and genetic) in medicine. (biomedcentral.com)
  • Since then, similar observations have been reported [ 17 , 18 ], and epigenetics is now considered to be an intrinsic mechanism that bridges the gap between environmental and genetic factors (Figure 1 , right). (biomedcentral.com)
  • Anxiety disorders appear to be caused by an interaction of biopsychosocial factors, including genetic vulnerability, which interact with situations, stress, or trauma to produce clinically significant syndromes. (health.am)
  • Genetic factors significantly influence risk for many anxiety disorders. (health.am)
  • The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
  • The brain circuits and regions associated with anxiety disorders are beginning to be understood with the development of functional and structural imaging. (medscape.com)
  • Three overlapping but distinct populations of B. burgdorferi corresponded to the geographic regions. (cdc.gov)
  • The absence or rarity of B. burgdorferi in Ohio and in the Rocky Mountain and Great Basin regions suggests that these three populations of B. burgdorferi are geographically if not ecologically isolated. (cdc.gov)
  • We used an internal 592-bp fragment (Number?2A) like a probe, subcloned from your BML-275 pontent inhibitor full-length element. (irjs.info)
  • In addition, by re-inserting the 12-nucleotide fragment, the activity of the Murcott Cstps1 promoter was mostly recovered. (biomedcentral.com)
  • There was only one dominant locus associated with valencene content detected on the mandarin genetic map. (biomedcentral.com)
  • First-tier Golden Gate assembly constructs the single-gene construct by adding in genetic elements such as promoter, open reading frames, and terminators. (wikipedia.org)
  • Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
  • By further cloning and analyzing the promoter region of Cstps1 from Valencia, Fortune and Murcott, a 12-nucleotide deletion at approximately − 270 bp from the Cstps1 coding region was only found in Murcott. (biomedcentral.com)
  • The deficiency of valencene production in some mandarins is probably due to a 12-nucleotide deletion in the promoter region of the Cstps1 , which could be a crucial switch of Cstps1 transcription. (biomedcentral.com)
  • The mobile promoters could play an important role in the rapid rewiring of gene regulatory networks. (wur.nl)
  • We found that SW278 and Ehime1107 clustered into GII for the nonstructural region-based grouping but clustered into GIV for the Figure 1. (cdc.gov)
  • A previous genetic mapping study using an F1 population of Fortune × Murcott found that the segregation of valencene production in fruit exhibited a Mendelian inheritance ratio of 1:1. (biomedcentral.com)