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  • tumors
  • Columbia researchers have discovered how a gene fusion found in 3 percent of glioblastoma tumors boosts mitochondrial activity, triggering cancer. (eurekalert.org)
  • At the time, it was thought that this gene fusion was limited to a fraction of brain tumors, affecting about 300 patients in the U.S. per year. (eurekalert.org)
  • We conclude that fusion of the SLC1A2 gene coding region to CD44 regulatory elements likely causes SLC1A2 transcriptional dysregulation, because tumors expressing high SLC1A2 levels also tended to be CD44-SLC1A2 -positive. (sciencemag.org)
  • Investigating further, the team found that the MYB-QKI gene fusions appeared to be driving these brain tumors in three different ways. (eurekalert.org)
  • Experiments in mice confirmed that the MYB-QKI fusion in injected test cells is sufficient to create tumors. (eurekalert.org)
  • 2017
  • New York, NY (January 3, 2017)--The fusion of two adjacent genes can cause cancer by kicking mitochondria into overdrive and increasing the amount of fuel available for rampant cell growth, researchers at Columbia University Medical Center (CUMC) have discovered. (eurekalert.org)
  • Genome
  • In recent years, next generation sequencing technology has already become available to screen known and novel gene fusion events on a genome wide scale. (wikipedia.org)
  • Another database, ConjoinG, is a comprehensive resource dedicated only to the 800 Conjoined Genes identified in the entire human genome. (wikipedia.org)
  • Given that the exact ancestry of genes in different organisms is difficult to ascertain due to gene duplication and genome rearrangement events, the strongest evidence that two similar genes are orthologous is usually found by carrying out phylogenetic analysis of the gene lineage. (wikipedia.org)
  • Sequencing
  • Peter Aplan, M.D., Head of the Leukemia Biology Section in CCR's Genetics Branch, and his colleagues generated transgenic mice that expressed the NP23 fusion gene in all hematopoietic tissues, and used global gene expression assays and chromatin immunoprecipitation combined with high-throughput sequencing (ChIP-seq) to identify aberrant gene expression profiles and chromatin modifications associated with the NP23 fusion. (cancer.gov)
  • These progressed from Sanger sequencing of Expressed Sequence Tag libraries, to chemical tag-based methods (e.g., serial analysis of gene expression), and finally to the current technology, next-gen sequencing of cDNA (notably RNA-Seq). (wikipedia.org)
  • NTRK3
  • This new gene consists of the 5' end of ETV6 fused to the 3' end of NTRK3. (wikipedia.org)
  • Entrectinib is a pan-NTRK as well as an ALK and ROS1 tyrosine kinase inhibitor has been found useful in treating a single patient with ETV6-NRTK3 fusion gene-associated mammary analogue secretory carcinoma and has lend support to the clinical development of NTRK3-directed tyrosine kinase inhibitors to treat ETV6-NTRK3 fusion protein associated malignancies. (wikipedia.org)
  • Tropomyosin receptor kinase C (TrkC), also known as NT-3 growth factor receptor, neurotrophic tyrosine kinase receptor type 3, or TrkC tyrosine kinase is a protein that in humans is encoded by the NTRK3 gene. (wikipedia.org)
  • It is a selective pan-trk receptor tyrosine kinase inhibitor (TKI) targeting gene fusions in trkA, trkB, and trkC (coded by NTRK1, NTRK2, and NTRK3 genes) that is currently in phase 2 clinical testing. (wikipedia.org)
  • glioblastoma
  • In their previous study, the researchers found that drugs that inhibit FGFR3 kinase, an enzyme that helps the protein produced by this fusion gene do its work, increased survival when tested in mice with glioblastoma. (eurekalert.org)
  • These drugs are now being tested in patients with recurrent glioblastoma that contains the gene fusion by one of the paper's co-authors, Marc Sanson, MD, of Pitié Salpêtrière Hospital in Paris. (eurekalert.org)
  • Using cultured glioblastoma cells and a mouse xenograft model, we found that fusion protein expression promoted cell proliferation and tumor progression, while WT FGFR3 protein was not tumorigenic, even under forced overexpression. (jci.org)
  • sequence
  • The 'Wordle' image shows the relative abundance of gene functions 'fished' out of the plant databases using the NLR sequence. (eurekalert.org)
  • Combined with direct digital counting on the nCounter system and Junction Sequence probe design, the detection of fusion genes is highly sensitive, quantitative, and easy. (nanostring.com)
  • Duplication, sequence divergence, and recombination are the major contributors at work in gene evolution. (wikipedia.org)
  • When gene fusion happens in non-coding sequence region, it can lead to the misregulation of the expression of a gene now under the control of the cis-regulatory sequence of another gene. (wikipedia.org)
  • Issues with microarrays include cross-hybridization artifacts, poor quantification of lowly and highly expressed genes, and needing to know the sequence a priori. (wikipedia.org)
  • Homologous sequences are orthologous if they are inferred to be descended from the same ancestral sequence separated by a speciation event: when a species diverges into two separate species, the copies of a single gene in the two resulting species are said to be orthologous. (wikipedia.org)
  • Significant sequence similarity and shared functional domains indicate that these two genes are orthologous genes, inherited from the shared ancestor. (wikipedia.org)
  • NUP98
  • Disulfiram inhibits the binding of the NUP98-PHF23 fusion gene product to DNA of blood-forming cells, preventing the overexpression of certain kinds of genes associated with several types of leukemia, such as Hoxa9 . (cancer.gov)
  • This NUP98-PHF23 (NP23) fusion leads to the overexpression of Hoxa9 and the overproliferation of myeloid progenitor cells that is linked to AML. (cancer.gov)
  • In separate experiments, AML driven by the related fusion gene NUP98-JARID1A was found to also be sensitive to disulfiram. (cancer.gov)
  • Nuclear pore complex protein Nup98-Nup96 is a protein that in humans is encoded by the NUP98 gene. (wikipedia.org)
  • tissues
  • In samples of human tumour tissues, the fusion gene EGFR-PPARGC1A was found in areas frequently exposed to the sun, like the face or hands, but not in areas of the body that are typically concealed in the daylight. (ecancer.org)
  • Gene expression profiles revealed overexpression of Hoxa/b , Meis1 , and Bahcc1 genes in NP23 tissues. (cancer.gov)
  • A variety of parameters are considered when designing and conducting RNA-Seq experiments: Tissue specificity: Gene expression varies within and between tissues, and RNA-Seq measures this mix of cell types. (wikipedia.org)
  • mechanism
  • The third, most new and interesting mechanism turned out to involve a combination of elements from the two genes. (eurekalert.org)
  • The vector is used to introduce a specific gene into a target cell, and can commandeer the cell's mechanism for protein synthesis to produce the protein encoded by the gene. (wikipedia.org)
  • researchers
  • Researchers already know that certain sub-types of these gliomas are driven mostly by mutations or duplications to genes in the growth-related, mitogen-associated protein kinase (MAPK) pathway. (eurekalert.org)
  • Researchers from Kumamoto University, Japan have determined that a particular fusion gene has a tendency to be found in cutaneous squamous cell carcinoma (cSCC) lesions on skin exposed frequently to the sun. (ecancer.org)
  • The researchers found that the gene fusion blocks the androgen receptor directly and also interferes with it at the genetic level to prevent normal androgen receptor signaling. (scienceblog.com)
  • alterations
  • They found that besides MAPK-related alterations the most common genetic abnormalities were those involving a growth-driving gene, MYB, which normally is active only during the fetal phase of life. (eurekalert.org)
  • In fact, all of the 19 angiocentric glioma samples had detectable MYB alterations, and there was evidence that most of these alterations involved one specific abnormality: a deletion of chromosomal DNA that left one end of MYB fused to a normally separate gene, QKI. (eurekalert.org)
  • rearrangement
  • Majewska H, Skálová A, Stodulski D, Klimková A, Steiner P, Stankiewicz C, Biernat W. "Mammary analogue secretory carcinoma of salivary glands: a new entity associated with ETV6 gene rearrangement. (wikipedia.org)
  • PMID
  • The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes" Genomics 84: 265-276, 2004.PMID 15233991 Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, et al. (wikipedia.org)
  • found
  • Fusion genes may be found in various types of connective tissue tumours, and some treatments have been developed that inhibit the tumour-forming actions of those genes. (ecancer.org)
  • Furthermore, fusion genes typically found in other types of SCCs were rarely found in cSCC. (ecancer.org)
  • These genes have been found in practically all main subtypes of human neoplasia. (wikipedia.org)
  • More than 70% of the human conjoined genes are found to be conserved across other vertebrate genomes with higher order vertebrates showing more conservation, including the closest human ancestor, chimpanzee. (wikipedia.org)
  • Hoxa
  • In addition, BAHCC1 overexpression occurred in a slightly different pattern than HOXA and MEIS1 in AML patients, pointing to the gene as a new marker for AML. (cancer.gov)
  • Further analysis suggests that BAHCC1 overexpression is associated with HOXA expression patterns, but is not directly driven by the NP23 fusion. (cancer.gov)
  • Using ChIP-seq, Aplan's team discovered that NP23 bound a chromatin mark of active gene transcription (H3K4me3) via the PHD-domain of the NP23 fusion protein, at specific sites, with highest levels at the loci of stem cell self-renewal genes including Hoxa , Hoxb , and Meis1 . (cancer.gov)
  • Homeobox A cluster is a protein that in humans is encoded by the HOXA@ gene. (wikipedia.org)
  • Citation
  • citation needed] Given their tremendous importance for biology and bioinformatics, orthologous genes have been organized in several specialized databases that provide tools to identify and analyze orthologous gene sequences. (wikipedia.org)
  • reporter gene system
  • The GUS reporter system (GUS: β-glucuronidase) is a reporter gene system, particularly useful in plant molecular biology and microbiology. (wikipedia.org)
  • Richard Anthony Jefferson (born 1956) is an American-born molecular biologist and social entrepreneur who developed the widely used reporter gene system GUS, conducted the world's first biotech crop release, proposed the Hologenome theory of evolution, pioneered Biological Open Source and founded The Lens. (wikipedia.org)
  • deletion
  • The ichthyosporeans have a two amino acid deletion in their EEF1A1 gene that is considered characteristic of fungi. (wikipedia.org)
  • transcriptional
  • First, although MYB is normally not expressed in the developed human brain, the gene arrangement in angiocentric gliomas leads to abnormal expression and transcriptional activity of MYB via the MYB-QKI gene fusion--and indeed the fused MYB-QKI works as an oncogene to drive tumor formation. (eurekalert.org)