RNA Splicing

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  Subject Areas on Research

  • A circular trans-acting hepatitis delta virus ribozyme. 
  • A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein. 
  • A compensatory base change in U1 snRNA suppresses a 5' splice site mutation. 
  • A compensatory base change in human U2 snRNA can suppress a branch site mutation. 
  • A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. 
  • A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 
  • A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 
  • A lentiviral vector bearing a reverse intron demonstrates superior expression of both proteins and microRNAs. 
  • A mammalian activity required for the second step of pre-messenger RNA splicing. 
  • A mammalian protein of 220 kDa binds pre-mRNAs in the spliceosome: a potential homologue of the yeast PRP8 protein. 
  • A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A novel species-specific RNA related to alternatively spliced amyloid precursor protein mRNAs. 
  • A novel splice site mutation (156 + 1G-->A) in the TSC2 gene. 
  • A serine/arginine-rich domain in the human U1 70k protein is necessary and sufficient for ASF/SF2 binding. 
  • A small circular TAR RNA decoy specifically inhibits Tat-activated HIV-1 transcription. 
  • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 
  • A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 
  • A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. 
  • ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects. 
  • Aberrant splicing of the TSG101 tumor suppressor gene in human breast and ovarian cancers. 
  • Alternative processing of androgen-binding protein RNA transcripts in fetal rat liver. Identification of a transcript formed by trans splicing. 
  • An ATP-independent U2 small nuclear ribonucleoprotein particle/precursor mRNA complex requires both splice sites and the polypyrimidine tract. 
  • An analysis of alternatively spliced CD45 mRNA transcripts during T cell maturation in humans. 
  • An intronic sequence element mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing. 
  • Analysis of the stimulatory effect of splicing on mRNA production and utilization in mammalian cells. 
  • Ankyrin regulation: an alternatively spliced segment of the regulatory domain functions as an intramolecular modulator. 
  • Aptamer-mediated delivery of splice-switching oligonucleotides to the nuclei of cancer cells. 
  • Assaying nuclear messenger RNA export in human cells. 
  • Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer. 
  • Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs. 
  • Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site. 
  • Binding of tenascin-C to soluble fibronectin and matrix fibrils. 
  • Both phosphorylation and dephosphorylation of ASF/SF2 are required for pre-mRNA splicing in vitro. 
  • Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells. 
  • Circular RNAs are abundant, conserved, and associated with ALU repeats. 
  • Circularizing ribozymes and decoy-competitors by autocatalytic splicing in vitro and in vivo. 
  • Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways. 
  • Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue. 
  • Cloning and structural analysis of the human c-kit gene. 
  • Complete sequence of the Drosophila nonmuscle myosin heavy-chain transcript: conserved sequences in the myosin tail and differential splicing in the 5' untranslated sequence. 
  • Complex structure and regulation of the ABP/SHBG gene. 
  • Comprehensive RNA Polymerase II Interactomes Reveal Distinct and Varied Roles for Each Phospho-CTD Residue. 
  • Connecting genetic risk to disease end points through the human blood plasma proteome. 
  • Connections between the processing and nuclear export of mRNA: evidence for an export license? 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. 
  • Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases. 
  • Coupled in vitro synthesis and splicing of RNA polymerase II transcripts. 
  • De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 
  • Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability. 
  • Diversity of ankyrins in the brain. 
  • Driving factors in amiloride recognition of HIV RNA targets. 
  • Early history of circular RNAs, children of splicing. 
  • Enhancing RNA repair efficiency by combining trans-splicing ribozymes that recognize different accessible sites on a target RNA. 
  • Epitranscriptomic Addition of m5C to HIV-1 Transcripts Regulates Viral Gene Expression. 
  • Evaluating group I intron catalytic efficiency in mammalian cells. 
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 
  • Exon circularization in mammalian nuclear extracts. 
  • Exon junction complexes mediate the enhancing effect of splicing on mRNA expression. 
  • Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. 
  • Expanding the functional repertoire of CTD kinase I and RNA polymerase II: novel phosphoCTD-associating proteins in the yeast proteome. 
  • Expression of alternatively spliced human T-lymphotropic virus type I pX mRNA in infected cell lines and in primary uncultured cells from patients with adult T-cell leukemia/lymphoma and healthy carriers. 
  • Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. 
  • FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations. 
  • Focal adhesion integrity is downregulated by the alternatively spliced domain of human tenascin. 
  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 
  • Functional conservation of the human homolog of the yeast pre-mRNA splicing factor Prp17p. 
  • Generation and characterization of circular Bacillus subtilis RNase P RNA; activation by RNase P protein. 
  • Generation of nuclease resistant circular RNA decoys for HIV-Tat and HIV-Rev by autocatalytic splicing. 
  • Generation of nuclease resistant circular RNA decoys for HIV-Tat and HIV-Rev by autocatalytic splicing. 
  • Genome-wide mutational signatures of aristolochic acid and its application as a screening tool. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Group I intron self-splicing with adenosine: evidence for a single nucleoside-binding site. 
  • Group I permuted intron-exon (PIE) sequences self-splice to produce circular exons. 
  • Group-I intron family in the nuclear ribosomal RNA small subunit genes of Cenococcum geophilum isolates. 
  • HIV-1 Rev promotes the nuclear export of unspliced and singly spliced RNAs in a mammalian cell-free export system. 
  • Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly. 
  • High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. 
  • Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk. 
  • Human transcription elongation factor CA150 localizes to splicing factor-rich nuclear speckles and assembles transcription and splicing components into complexes through its amino and carboxyl regions. 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns. 
  • Identification of MAVS splicing variants that interfere with RIGI/MAVS pathway signaling. 
  • Identification of the cellular targets of the transcription factor TCERG1 reveals a prevalent role in mRNA processing. 
  • Impaired expression and functional activity of the beta 3- and beta 1-adrenergic receptors in adipose tissue of congenitally obese (C57BL/6J ob/ob) mice. 
  • Improved transcript isoform discovery using ORF graphs. 
  • In vitro coupled transcription splicing. 
  • In vivo RNA editing of point mutations via RNA-guided adenosine deaminases. 
  • Increased 4R-Tau Induces Pathological Changes in a Human-Tau Mouse Model. 
  • Inducing circular RNA formation using the CRISPR endoribonuclease Csy4. 
  • Inhibitory effects of vesicular stomatitis virus on cellular and influenza viral RNA metabolism and protein synthesis. 
  • Insight into the molecular pathophysiology of myelodysplastic syndromes: targets for novel therapy. 
  • Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. 
  • Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast. 
  • Kinetics of expression of multiply spliced RNA in early human immunodeficiency virus type 1 infection of lymphocytes and monocytes. 
  • Making antisense of splicing. 
  • Mechanisms coordinating ELAV/Hu mRNA regulons. 
  • Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing. 
  • Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing. 
  • Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation of Rubie, a novel long non-coding RNA located upstream of Bmp4, causes vestibular malformation in mice. 
  • Mutational definition of the human immunodeficiency virus type 1 Rev activation domain. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in the TSGA14 gene in families with autism spectrum disorders. 
  • New techniques for DNA sequence classification. 
  • Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. 
  • Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 
  • Nuclear export of late HIV-1 mRNAs occurs via a cellular protein export pathway. 
  • One binding site determines sequence specificity of Tetrahymena pre-rRNA self-splicing, trans-splicing, and RNA enzyme activity. 
  • Overexpression of the arginine-rich carboxy-terminal region of U1 snRNP 70K inhibits both splicing and nucleocytoplasmic transport of mRNA. 
  • Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. 
  • Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. 
  • Phylogenetic analyses suggest reverse splicing spread of group I introns in fungal ribosomal DNA. 
  • Physiologically regulated alternative splicing patterns of fast troponin T RNA are conserved in mammals. 
  • Positive patches and negative noodles: linking RNA processing to transcription? 
  • Predicting gene structure changes resulting from genetic variants via exon definition features. 
  • Prespliceosome and spliceosome isolation and analysis. 
  • Probing the interplay between the two steps of group I intron splicing: competition of exogenous guanosine with omega G. 
  • Protein isoforms encoded by the pX region of human T-cell leukemia/lymphotropic virus type I. 
  • Protein-protein interactions and 5'-splice-site recognition in mammalian mRNA precursors. 
  • Quantification of microRNAs, splicing isoforms, and homologous mRNAs with the invader assay. 
  • Quantitative measurement of alternatively spliced amyloid precursor protein mRNA expression in Alzheimer's disease and normal brain by S1 nuclease protection analysis. 
  • RNA as an RNA polymerase: net elongation of an RNA primer catalyzed by the Tetrahymena ribozyme. 
  • RNA binding by Sxl proteins in vitro and in vivo. 
  • RNA regulons: coordination of post-transcriptional events. 
  • RNAi-mediated PTB depletion leads to enhanced exon definition. 
  • Regulation of alternative splicing of NMDAR1 in the kindling model. 
  • Retroviruses as model systems for the study of nuclear RNA export pathways. 
  • Rev activates expression of the human immunodeficiency virus type 1 vif and vpr gene products. 
  • Revising messages traveling along the cellular information superhighway. 
  • Ribonucleoprotein infrastructure regulating the flow of genetic information between the genome and the proteome. 
  • Ribozyme-mediated repair of RNAs encoding mutant tumor suppressors. 
  • Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing. 
  • Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 
  • Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. 
  • SR proteins control a complex network of RNA-processing events. 
  • SR proteins escort the U4/U6.U5 tri-snRNP to the spliceosome. 
  • Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity. 
  • Secretion of HLA-A and -B antigens via an alternative RNA splicing pathway. 
  • Selection of circularization sites in a group I IVS RNA requires multiple alignments of an internal template-like sequence. 
  • Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. 
  • Signaling activities of the Drosophila wingless gene are separately mutable and appear to be transduced at the cell surface. 
  • Single-nucleotide polymorphisms of stemness genes predicted to regulate RNA splicing, microRNA and oncogenic signaling are associated with prostate cancer survival. 
  • Sites of circularization of the Tetrahymena rRNA IVS are determined by sequence and influenced by position and secondary structure. 
  • Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. 
  • Specific binding of the human T-cell leukemia virus type I Rex protein to a short RNA sequence located within the Rex-response element. 
  • Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. 
  • Structural and functional analysis of the avian leukemia virus constitutive transport element. 
  • Structure of the eukaryotic transcription apparatus: features of the gene for the largest subunit of Drosophila RNA polymerase II. 
  • Structure-function analyses of the HTLV-I Rex and HIV-1 Rev RNA response elements: insights into the mechanism of Rex and Rev action. 
  • Structures involved in Tetrahymena rRNA self-splicing and RNA enzyme activity. 
  • Tagging ribozyme reaction sites to follow trans-splicing in mammalian cells. 
  • Tat-SF1 is not required for Tat transactivation but does regulate the relative levels of unspliced and spliced HIV-1 RNAs. 
  • The 5' and 3' splice sites come together via a three dimensional diffusion mechanism. 
  • The Carboxyl-terminal Domain of RNA Polymerase II Is Not Sufficient to Enhance the Efficiency of Pre-mRNA Capping or Splicing in the Context of a Different Polymerase. 
  • The Tetrahymena ribozyme acts like an RNA restriction endonuclease. 
  • The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors. 
  • The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3. 
  • The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation. 
  • The natural 5' splice site of simian virus 40 large T antigen can be improved by increasing the base complementarity to U1 RNA. 
  • The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 
  • The spectrin skeleton: from red cells to brain. 
  • The spliceosome assembly pathway in mammalian extracts. 
  • The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II. 
  • The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 
  • The transcription elongation factor CA150 interacts with RNA polymerase II and the pre-mRNA splicing factor SF1. 
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 
  • Tissue-specific genetic control of splicing: implications for the study of complex traits. 
  • Trans-splicing into highly abundant albumin transcripts for production of therapeutic proteins in vivo. 
  • Trans-splicing reactions by ribozymes. 
  • Two Ck1δ transcripts regulated by m6A methylation code for two antagonistic kinases in the control of the circadian clock. 
  • U1 snRNP-ASF/SF2 interaction and 5' splice site recognition: characterization of required elements. 
  • UACUAAC is the preferred branch site for mammalian mRNA splicing. 
  • Unusual RNA splicing generates a secreted form of HLA-A2 in a mutagenized B lymphoblastoid cell line. 
  • Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. 
  • Widespread occurrence of spliceosomal introns in the rDNA genes of ascomycetes. 
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  Keywords of People

  • Bennett, Vann, George B. Geller Distinguished Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor of Pediatrics, in the School of Medicine, Immunology
  • Erickson, Harold Paul, James B. Duke Distinguished Professor of Cell Biology, Biomedical Engineering
  • Krangel, Michael S., Mary Bernheim Distinguished Professor of Immunology, Immunology
  • Shinohara, Mari L., Associate Professor of Immunology, Immunology