• Here, we present a suite of tools for genetic manipulation in the tomato pathogen C. michiganensis including a markerless deletion system, an integrative plasmid, and an R package for identification of permissive sites for plasmid integration. (biorxiv.org)
  • The vector pSelAct-KO is a recombination based, markerless knockout system that uses dual selection to engineer seamless deletions of a region of interest, providing opportunities for repeated higher-order genetic knockouts. (biorxiv.org)
  • Large deletions involving entire single exons or multiple exons, large insertions and other complex genetic events have been reported in PTEN and will not be identified using this test methodology. (cincinnatichildrens.org)
  • Burn-McKeown syndrome is caused by mutations in the TXNL4A gene or in an area of genetic material near the TXNL4A gene called the promoter region, which controls the production of protein from the gene. (medlineplus.gov)
  • Using mouse models with distinct deletions in an intergenic region controlling imprinting across the Dlk1-Dio3 domain, we link changes in genetic and epigenetic states to allelic-expression and phenotypic outcome in vivo. (nature.com)
  • First, analyses of ltxA RNA expression from defined leukotoxin promoter mutations in the chromosome identify -69 to -35 as the key control region and indicate that an activator protein modulates leukotoxin transcription. (usda.gov)
  • MEG3 (maternally expressed gene 3): Loss of expression, genomic DNA deletion, and promoter methylation on chromosome 14q32. (wikidoc.org)
  • Oligodendrogliomas are typically characterized by deletion of the p arm of chromosome 1 and the q arm of chromosome 19 (1p/19q codeletion). (msdmanuals.com)
  • In one of the first examples of a eukaryotic sequence-specific binding protein, he discovered that Gcn4 coordinately activates many genes involved in amino acid biosynthesis by direct binding to bound target sites in their promoters. (wikipedia.org)
  • Deletion of this promoter is expected to block the expression of early and late phase genes, inhibit HCMV replication, prevent latency, and protect the cellular immune system, in immunocompromised patients. (emerginginvestigators.org)
  • Several molecular mechanisms with antifungal agents have been reported for C. albicans where insertions, deletions, and point mutations in genes codifying target proteins are frequently related to the antifungal drug resistance. (intechopen.com)
  • Mutations/deletions in separate genes, each of which alone causes a minimal phenotype, but when combined in the same cell results in a more severe fitness defect or lethality under a given condition. (thebiogrid.org)
  • Subsequently, a southwestern blot analysis was used to identify transcription factors displaying specific binding to a previously reported cis-element, CTTCAAAGCCA, found in the XCP1 promoter and other tracheary element-associated genes from multiple species. (vt.edu)
  • These solo-LTRs contain functional sequences like promoters, enhancers, polyadenylation signals and are frequently located near cellular genes. (frontiersin.org)
  • 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 sensitivity of DNA sequencing is over 99% for the detection of nucleotide changes, small deletions and insertions in the regions analyzed. (cincinnatichildrens.org)
  • Insertions are marked with sign "@" and deletions with "#" in front of the mutation site. (lu.se)
  • In the rare occasion of inframe insertions or deletions the number of added or deleted residues is indicated by denoting the number of residues preceded by "+" or "-", respectively. (lu.se)
  • repression sequences that act upstream of and at a distance from promoters. (wikipedia.org)
  • deletion) located approximately 400Kb upstream to IGFBP5, which overlaps an intergenic ERα-bound enhancer that loops to the IGFBP5 promoter. (duke.edu)
  • Luciferase reporter assays with the mouse ALOX5 promoter of 2 kilobase upstream of translation start codon demonstrate that the ALOX5 promoter activity increased more than 5-fold over background. (cdc.gov)
  • Luciferase reporter assays demonstrated that the Adcy1 promoter is selectively activated by neuronal PAS-domain protein 2 (NPAS2)/BMAL1. (jneurosci.org)
  • Computational analysis, deletion promoter luciferase-based assays and Chromatin Immunoprecipitation (ChIP) will be employed to identify functional elements responsible for the regulation of KDM transcription. (ntu.ac.uk)
  • One of these was assembled as a multimeric bait construct and used in yeast one-hybrid assays to identify candidate transcription factors that bind to the XCP1 promoter region. (vt.edu)
  • Deletion/duplication analysis of PTEN will detect a mutation in about 10% of individuals with Bannayan-Riley-Ruvalcaba syndrome. (cincinnatichildrens.org)
  • Fig. 3: Haplotype and association analyses in natural populations identify the deletion in TaHRC as the likely causal mutation for Fhb1 . (nature.com)
  • Thus, #I651X652(1) means deletion at codon 651 causing frameshift mutation leading to appearance of the stop signal at codon 652. (lu.se)
  • Transfecting these cell lines with a codon optimized ERV-K113 env overexpressing CMV vector was performed with or without 5'-Aza-2'-deoxycytidine (Aza) treatment to sustain promoter de-methylation. (frontiersin.org)
  • IDH1/2 mutations are the histological classification and avoids the TeT2 pRomoteR methylation in low- most significant predictor of favourable ambiguity inherent to the diagnosis of gRade diffuse gliomas lacking idh1/2 outcome of glioblastoma patients. (who.int)
  • This chromatin organization differentially instructed alternative Abd-B promoter use, thereby expanding the possibilities to regulate transcriptional output. (biorxiv.org)
  • This activity was significantly elevated following 5'-deletion analyses of ALOX5 promoter and further enhanced by MWCNT treatment, implicating a transcriptional mechanism in the induction of ALOX5. (cdc.gov)
  • We demonstrate that TaHRC encodes a nuclear protein conferring FHB susceptibility and that a deletion spanning the start codon of this gene results in FHB resistance. (nature.com)
  • Restriction digests of the mutant fragments localised breakpoint regions, which were then characterised by sequencing (fig 2) to show five distinct novel deletions, ranging in size from 5629 to 7183 bases. (bmj.com)
  • Using CRISPR/Cas9 technology/synthetic single gRNA, site-specific cleavage was carried out with successful deletion of a major intermediate early gene promoter/enhancer (MIEP/E) of HCMV. (emerginginvestigators.org)
  • Scholars@Duke publication: An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. (duke.edu)
  • DBC1 is required for recruitment of AR-V7 to its target enhancers and for long-range chromatin looping between the CDH2 enhancer and promoter. (cancerindex.org)
  • In addition, by re-inserting the 12-nucleotide fragment, the activity of the Murcott Cstps1 promoter was mostly recovered. (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)
  • A deletion analysis of the XCP1 promoter was conducted to identify promoter elements that are necessary and sufficient for tracheary element-restricted gene expression. (vt.edu)
  • Among these samples, 14 were identified with rare haplotypes created by a change at the SNP in exon 16 (fig 1), suggestive of a possible deletion of this exon. (bmj.com)
  • Also, additional sequence information available for one of these samples showed a heterozygous SNP near exon 17, placing a 3′ limit on the size of the putative deletion. (bmj.com)
  • Within the remaining samples, 42 contained rare haplotypes that appeared to arise from changes in one out of five SNP loci in exon 11, potentially indicative of a partial deletion of the exon. (bmj.com)
  • These samples were excluded from deletion testing because, to date, all clinically significant large deletions that have been characterised in BRCA1 are Alu mediated, whole exon deletions. (bmj.com)
  • Strikingly, flipping imprinting on the parental chromosomes by crossing genotypes of complete and partial intergenic element deletions rescues the lethality of each deletion on its own. (nature.com)
  • Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
  • This discovery increased the likelihood that the unusual haplotype in this sample, and perhaps others in this group, were the result of intragenic deletions, and not just recombination. (bmj.com)
  • Axonal transport rates in vivo are unaffected by tau deletion or overexpression in mice. (alzforum.org)
  • We assessed the effect of Chop deletion in multiple mouse models of type 2 diabetes and found that Chop -/- mice had improved glycemic control and expanded β cell mass in all conditions analyzed. (jci.org)
  • To study the consequences of sustained exposure to Ex-4, we generated metallothionein promoter-exendin-4 (MT-Exendin) mice that continuously express a proexendin-4 transgene in multiple murine tissues. (diabetesjournals.org)
  • 4- 8 An additional 17 samples were excluded from deletion testing because their haplotypes were defined by changes at two, non-adjacent haplotype defining SNPs, which could not be explained by a single deletion event. (bmj.com)
  • Using "reverse genetics" to study gene regulation in vivo, Struhl generated the first eukaryotic promoter mutants and performed a detailed analysis of the his3 gene. (wikipedia.org)
  • Three binary vectors, designated as p1380-FortP-GUSin, p1380-MurcP-GUSin and p1380-MurcP(+ 12)-GUSin, were developed for promoter activity analysis. (biomedcentral.com)
  • Computational analysis of microbial genomes has suggested that many factors function optimally when in a particular orientation and position with respect to their target promoters. (nih.gov)
  • We found evidence of non-random organization of sites within promoters, differences in binding site density, or both for thirty-eight transcription factors. (nih.gov)
  • An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. (bmj.com)
  • This method was successfully applied to identify five deletions in the 3′ region of BRCA1 . (bmj.com)
  • Transient over-expression of Fortune Cstps1 promoter in sweet orange showed notable GUS activity, but the Murcott Cstps1 promoter did not. (biomedcentral.com)
  • Pioneering work in the late 1990s through early 2010s resulted in vectors for gene deletion and expression in Clavibacter , but there is still reliance on these tools despite known limitations. (biorxiv.org)
  • 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)
  • We show that these signatures allow transcription factors with substantial differences in binding site specificity to share similar promoter specificities. (nih.gov)
  • While CDKN2A / B status is not formally incorporated into the grading criteria, CDKN2A / B homozygous deletion has been reported in a small subset of grade 3 oligodendrogliomas, and not in grade 2, where it was associated with poor outcomes. (cap.org)
  • Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. (bvsalud.org)
  • Thus, even in the setting of a low-grade appearing IDH-mutant astrocytoma without significant mitotic activity, homozygous deletion of CDKN2A and/or CDKN2B would result in a grade 4 designation. (cap.org)
  • Maternal deletion of the entire IG-DMR was shown to result in perinatal lethality, while paternal deletion was consistent with normal development 13 , 14 . (nature.com)
  • Surprisingly, an isolated paternally derived deletion of a CpG island (CGI) located at the 5′ portion of the IG-DMR was shown to result in the opposing paternal-to-maternal phenotype 15 . (nature.com)
  • Deletion of the STOP cassette should result in transcription of the miR30-miR34a transgene. (taconic.com)
  • Several other samples were identified with haplotypes that may have been the result of intragenic deletions. (bmj.com)
  • P63 targeted deletion under the FOXN1 promoter disrupts pre-and post-natal thymus development, function and maintenance as well as induces severe hair loss. (stembook.org)