introns

Summary

Summary: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

Top Publications

  1. pmc Parallel loss of plastid introns and their maturase in the genus Cuscuta
    Joel R McNeal
    Department of Plant Biology, University of Georgia, Athens, Georgia, United States of America
    PLoS ONE 4:e5982. 2009
  2. pmc Genome-wide mapping of alternative splicing in Arabidopsis thaliana
    Sergei A Filichkin
    Department of Botany and Plant Pathology and Center for Genome Research and Biocomputing, Oregon State University, Corvallis, Oregon 97331, USA
    Genome Res 20:45-58. 2010
  3. pmc Intronic microRNA precursors that bypass Drosha processing
    J Graham Ruby
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 448:83-6. 2007
  4. pmc The transcriptional landscape of the yeast genome defined by RNA sequencing
    Ugrappa Nagalakshmi
    Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06520, USA
    Science 320:1344-9. 2008
  5. pmc Differential chromatin marking of introns and expressed exons by H3K36me3
    Paulina Kolasinska-Zwierz
    The Gurdon Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nat Genet 41:376-81. 2009
  6. pmc Plasticity of animal genome architecture unmasked by rapid evolution of a pelagic tunicate
    France Denoeud
    Commissariat a l Energie Atomique, Institut de Génomique, Genoscope, Evry, France
    Science 330:1381-5. 2010
  7. ncbi A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome
    Marc Sultan
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Science 321:956-60. 2008
  8. ncbi Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    V Campuzano
    Department de Genetica, University of Valencia, Spain
    Science 271:1423-7. 1996
  9. ncbi Sea anemone genome reveals ancestral eumetazoan gene repertoire and genomic organization
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA
    Science 317:86-94. 2007
  10. ncbi The amphioxus genome and the evolution of the chordate karyotype
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 453:1064-71. 2008

Research Grants

  1. MECHANISM OF PRE-MRNA SPLICING
    MAGDA KONARSKA; Fiscal Year: 2009
  2. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2010
  3. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
  4. Role of Coxiella burnetii group I introns in growth modulation
    Michael F Minnick; Fiscal Year: 2010
  5. Role of Coxiella burnetii group I introns in growth modulation
    MICHAEL MINNICK; Fiscal Year: 2009
  6. Mutations detection and classification in ADPKD
    Sandro Rossetti; Fiscal Year: 2010
  7. HLA and schizophrenia: a high-throughput sequencing study
    DOUGLAS FREDERICK LEVINSON; Fiscal Year: 2012
  8. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 1999
  9. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2001
  10. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2001

Detail Information

Publications319 found, 100 shown here

  1. pmc Parallel loss of plastid introns and their maturase in the genus Cuscuta
    Joel R McNeal
    Department of Plant Biology, University of Georgia, Athens, Georgia, United States of America
    PLoS ONE 4:e5982. 2009
    ..highly conserved across most land plants and their closest relatives, streptophyte algae, with nearly all plastid introns having invaded the genome in their common ancestor at least 450 million years ago...
  2. pmc Genome-wide mapping of alternative splicing in Arabidopsis thaliana
    Sergei A Filichkin
    Department of Botany and Plant Pathology and Center for Genome Research and Biocomputing, Oregon State University, Corvallis, Oregon 97331, USA
    Genome Res 20:45-58. 2010
    ..Deep transcriptome sequencing confirmed a majority of annotated introns and identified thousands of novel alternatively spliced mRNA isoforms...
  3. pmc Intronic microRNA precursors that bypass Drosha processing
    J Graham Ruby
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 448:83-6. 2007
    ..Here we identify an alternative pathway for miRNA biogenesis, in which certain debranched introns mimic the structural features of pre-miRNAs to enter the miRNA-processing pathway without Drosha-mediated ..
  4. pmc The transcriptional landscape of the yeast genome defined by RNA sequencing
    Ugrappa Nagalakshmi
    Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06520, USA
    Science 320:1344-9. 2008
    The identification of untranslated regions, introns, and coding regions within an organism remains challenging...
  5. pmc Differential chromatin marking of introns and expressed exons by H3K36me3
    Paulina Kolasinska-Zwierz
    The Gurdon Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nat Genet 41:376-81. 2009
    ..We also observe a novel pattern: exons are preferentially marked with H3K36me3 relative to introns. H3K36me3 exon marking is dependent on transcription and is found at lower levels in alternatively spliced exons, ..
  6. pmc Plasticity of animal genome architecture unmasked by rapid evolution of a pelagic tunicate
    France Denoeud
    Commissariat a l Energie Atomique, Institut de Génomique, Genoscope, Evry, France
    Science 330:1381-5. 2010
    ..This rapidly evolving animal lineage thus offers unique perspectives on the level of genome plasticity. It also illuminates issues as fundamental as the mechanisms of intron gain...
  7. ncbi A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome
    Marc Sultan
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Science 321:956-60. 2008
    ..A global survey of messenger RNA splicing events identified 94,241 splice junctions (4096 of which were previously unidentified) and showed that exon skipping is the most prevalent form of alternative splicing...
  8. ncbi Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    V Campuzano
    Department de Genetica, University of Valencia, Spain
    Science 271:1423-7. 1996
    ..A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron...
  9. ncbi Sea anemone genome reveals ancestral eumetazoan gene repertoire and genomic organization
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA
    Science 317:86-94. 2007
    ..Analysis of diverse pathways suggests that these gene "inventions" along the lineage leading to animals were likely already well integrated with preexisting eukaryotic genes in the eumetazoan progenitor...
  10. ncbi The amphioxus genome and the evolution of the chordate karyotype
    Nicholas H Putnam
    Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 453:1064-71. 2008
    ..These genome-scale events shaped the vertebrate genome and provided additional genetic variation for exploitation during vertebrate evolution...
  11. pmc Human MicroRNA targets
    Bino John
    Computational Biology Center, Memorial Sloan Kettering Cancer Center, New York, New York, USA
    PLoS Biol 2:e363. 2004
    ..microrna.org. Our analysis suggests that miRNA genes, which are about 1% of all human genes, regulate protein production for 10% or more of all human genes...
  12. ncbi The sequence of the human genome
    J C Venter
    Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA
    Science 291:1304-51. 2001
    ..Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA...
  13. ncbi Genome-wide analyses of alternative splicing in plants: opportunities and challenges
    W Brad Barbazuk
    Donald Danforth Plant Science Center, St Louis, Missouri 63132, USA
    Genome Res 18:1381-92. 2008
    ..This review summarizes recent analyses of AS in plants, discusses the importance of further analysis, and suggests directions for future efforts...
  14. pmc Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB
    Miriam Llorian
    Department of Biochemistry, University of Cambridge, Cambridge, UK
    Nat Struct Mol Biol 17:1114-23. 2010
    ..Our results show that PTB, an archetypal splicing repressor, has variable splicing activity that predictably depends upon its binding location with respect to target exons...
  15. ncbi The ClosTron: a universal gene knock-out system for the genus Clostridium
    John T Heap
    Institute of Infection, Immunity and Inflammation, School of Molecular Medical Sciences, Centre for Biomolecular Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK
    J Microbiol Methods 70:452-64. 2007
    ..The procedure is highly efficient and reproducible, and should revolutionize functional genomic studies in clostridia...
  16. pmc Understanding splicing regulation through RNA splicing maps
    Joshua T Witten
    MRC Laboratory of Molecular Biology, Hills Road, Cambridge, UK, CB2 0QH
    Trends Genet 27:89-97. 2011
    ..Here, we discuss how insights from RNA splicing maps of different RBPs inform the mechanistic models of splicing regulation...
  17. ncbi Gene prediction with a hidden Markov model and a new intron submodel
    Mario Stanke
    Institut fur Mikrobiologie und Genetik, Abteilung Bioinformatik, Universitat Gottingen, Gottingen, Germany
    Bioinformatics 19:ii215-25. 2003
    ..Gene finding programs have achieved relatively high accuracy on short genomic sequences but do not perform well on longer sequences with an unknown number of genes in them. Here existing programs tend to predict many false exons...
  18. pmc Extensive, recent intron gains in Daphnia populations
    Wenli Li
    Biology Department, Indiana University, Bloomington, IN 47405, USA
    Science 326:1260-2. 2009
    ..intron-gain alleles with that for derived single-base substitutions, we also provide evidence that newly arisen introns are intrinsically deleterious and tend to accumulate in population-genetic settings where random genetic drift is ..
  19. ncbi A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig
    Anne Sophie Van Laere
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala University, BMC, Box 597, SE 751 24 Uppsala, Sweden
    Nature 425:832-6. 2003
    ..The result supports the long-held view that regulatory mutations are important for controlling phenotypic variation...
  20. ncbi Control of stress-dependent cardiac growth and gene expression by a microRNA
    Eva van Rooij
    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9148, USA
    Science 316:575-9. 2007
    ..Thus, the alphaMHC gene, in addition to encoding a major cardiac contractile protein, regulates cardiac growth and gene expression in response to stress and hormonal signaling through miR-208...
  21. ncbi Variation in FTO contributes to childhood obesity and severe adult obesity
    Christian Dina
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    Nat Genet 39:724-6. 2007
    ..The at-risk haplotype yields a proportion of attributable risk of 22% for common obesity. We conclude that FTO contributes to human obesity and hence may be a target for subsequent functional analyses...
  22. pmc Identification of mammalian microRNA host genes and transcription units
    Antony Rodriguez
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 14:1902-10. 2004
    ..We identified miRNAs within introns of 90 protein-coding genes with a broad spectrum of molecular functions, and in both introns and exons of 66 mRNA-..
  23. pmc Insights into the evolution of mitochondrial genome size from complete sequences of Citrullus lanatus and Cucurbita pepo (Cucurbitaceae)
    Andrew J Alverson
    Department of Biology, Indiana University, USA
    Mol Biol Evol 27:1436-48. 2010
    ..The relatively compact Citrullus mitochondrial genome actually contains more and longer genes and introns, longer segmental duplications, and more discernibly nuclear-derived DNA...
  24. pmc On the utility of short intron sequences as a reference for the detection of positive and negative selection in Drosophila
    John Parsch
    Department of Biology II, University of Munich, Planegg Martinsried, Germany
    Mol Biol Evol 27:1226-34. 2010
    ..For a set of 119 Drosophila melanogaster genes containing 195 short introns (<or=120 bp), we analyzed polymorphism and divergence at 1) 4-fold synonymous sites, 2) all sites of introns &..
  25. ncbi Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    Struan F A Grant
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:320-3. 2006
    ..It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway...
  26. pmc A detailed history of intron-rich eukaryotic ancestors inferred from a global survey of 100 complete genomes
    Miklos Csuros
    Department of Computer Science and Operations Research, Universite de Montreal, Montreal, Quebec, Canada
    PLoS Comput Biol 7:e1002150. 2011
    Protein-coding genes in eukaryotes are interrupted by introns, but intron densities widely differ between eukaryotic lineages...
  27. ncbi Human hypertension caused by mutations in WNK kinases
    F H Wilson
    Howard Hughes Medical Institute Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, CT 06510 USA
    Science 293:1107-12. 2001
    ..WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs...
  28. ncbi The origins of genome complexity
    Michael Lynch
    Department of Biology, Indiana University, Bloomington, IN 47405, USA
    Science 302:1401-4. 2003
    ..resulting from the retention of duplicate genes, and more abrupt increases in the abundance of spliceosomal introns and mobile genetic elements...
  29. pmc Origin and evolution of spliceosomal introns
    Igor B Rogozin
    National Center for Biotechnology Information NLM NIH, 8600 Rockville Pike, Bldg, 38A, Bethesda, MD 20894, USA
    Biol Direct 7:11. 2012
    Evolution of exon-intron structure of eukaryotic genes has been a matter of long-standing, intensive debate. The introns-early concept, later rebranded 'introns first' held that protein-coding genes were interrupted by numerous introns ..
  30. pmc Role of RNA structure in regulating pre-mRNA splicing
    M Bryan Warf
    Institute of Molecular Biology, and Department of Chemistry, University of Oregon, Eugene, Oregon 97403, USA
    Trends Biochem Sci 35:169-78. 2010
    Pre-mRNA splicing involves removing non-coding introns from RNA transcripts. It is carried out by the spliceosome, along with other auxiliary factors...
  31. doi Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution
    Brian T Wilhelm
    Cancer Research UK Fission Yeast Functional Genomics Group, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK
    Nature 453:1239-43. 2008
    ..or exon-intron junctions give unique insight into a surprising variability in splicing efficiency across introns, genes and conditions...
  32. doi Evidence for extensive recent intron transposition in closely related fungi
    Stefano F F Torriani
    Institute of Integrative Biology, Swiss Federal Institute of Technology ETH Zurich, 8092 Zurich, Switzerland
    Curr Biol 21:2017-22. 2011
    Though spliceosomal introns are a major structural component of most eukaryotic genes and intron density varies by more than three orders of magnitude among eukaryotes [1-3], the origins of introns are poorly understood, and only a few ..
  33. doi Introns within ribosomal protein genes regulate the production and function of yeast ribosomes
    Julie Parenteau
    Laboratoire de génomique fonctionnelle de l Université de Sherbrooke, Departement de Microbiologie et d Infectiologie, Faculte de Medecine et des Sciences de la Sante, Universite de Sherbrooke, Quebec, Canada
    Cell 147:320-31. 2011
    ..To investigate the contribution of splicing to ribosome production and function, we systematically eliminated introns from all RP genes to evaluate their impact on RNA expression, pre-rRNA processing, cell growth, and response to ..
  34. pmc Mammalian mirtron genes
    Eugene Berezikov
    Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
    Mol Cell 28:328-36. 2007
    ..These short hairpin introns use splicing to bypass Drosha cleavage, which is otherwise essential for the generation of canonical animal ..
  35. pmc Structure and activity of putative intronic miRNA promoters
    Alex Mas Monteys
    Department of Internal Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    RNA 16:495-505. 2010
    ..These data support complex regulation of intronic miRNA expression, and have relevance to disregulation in disease settings...
  36. pmc Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts
    Jeremy R Sanford
    Department of Molecular, Cellular, and Developmental Biology, University of California Santa Cruz, Santa Cruz, California 95064, USA
    Genome Res 19:381-94. 2009
    ..This comprehensive analysis substantially expands the known roles of human SR proteins in the regulation of a diverse array of RNA transcripts...
  37. pmc Critical association of ncRNA with introns
    David Rearick
    University of Toledo Health Science Campus, University of Toledo Health Science Campus, University of Toledo Health Science Campus, Toledo, OH 43614, USA
    Nucleic Acids Res 39:2357-66. 2011
    ..However, the significance of the presence of ncRNA within introns has not received proper attention...
  38. pmc Mechanisms of intron gain and loss in Drosophila
    Paul Yenerall
    Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA
    BMC Evol Biol 11:364. 2011
    It is widely accepted that orthologous genes have lost or gained introns throughout evolution. However, the specific mechanisms that generate these changes have proved elusive...
  39. doi Single-molecule analysis of Mss116-mediated group II intron folding
    Krishanthi S Karunatilaka
    Department of Chemistry, Wayne State University, 5101 Cass Avenue, Detroit, Michigan 48202, USA
    Nature 467:935-9. 2010
    ..Group II introns are structurally complex catalytic RNAs considered evolutionarily related to the eukaryotic spliceosome, and an ..
  40. ncbi The ClosTron: Mutagenesis in Clostridium refined and streamlined
    John T Heap
    BBSRC Sustainable BioEnergy Centre, School of Molecular Medical Sciences, Centre for Biomolecular Sciences, The University of Nottingham, University Park, Nottingham, NG7 2RD, UK
    J Microbiol Methods 80:49-55. 2010
    ..The improved ClosTron system supersedes the prototype plasmid pMTL007 and the original method, and exploits the potential of Group II introns more fully.
  41. pmc Group II introns: mobile ribozymes that invade DNA
    Alan M Lambowitz
    Institute for Cellular and Molecular Biology, Department of Chemistry and Biochemistry, University of Texas at Austin, Austin, Texas 78712, USA
    Cold Spring Harb Perspect Biol 3:a003616. 2011
    Group II introns are mobile ribozymes that self-splice from precursor RNAs to yield excised intron lariat RNAs, which then invade new genomic DNA sites by reverse splicing...
  42. ncbi The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla
    Olivier Jaillon
    Genoscope CEA and UMR 8030 CNRS Genoscope Université d Evry, 2 rue Gaston Cremieux, BP5706, 91057 Evry, France
    Nature 449:463-7. 2007
    ..Furthermore, we explain the chronology of previously described whole-genome duplication events in the evolution of flowering plants...
  43. ncbi Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells
    Matthew C Lorincz
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Nat Struct Mol Biol 11:1068-75. 2004
    ..As the methylated region adopts a closed chromatin structure in vivo, we propose that dense intragenic DNA methylation in mammalian cells initiates formation of a chromatin structure that reduces the efficiency of Pol II elongation...
  44. ncbi Challenging the dogma: the hidden layer of non-protein-coding RNAs in complex organisms
    John S Mattick
    ARC Special Research Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia QLD 4072, Australia
    Bioessays 25:930-9. 2003
    ..This paper re-examines the available evidence and suggests a new framework for considering and understanding the genomic programming of biological complexity, autopoietic development and phenotypic variation...
  45. ncbi Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    Nicolas Charlet-B
    Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Cell 10:45-53. 2002
    ..We propose that disruption of alternative splicing regulation causes a predominant pathological feature of DM1...
  46. ncbi Ultraconserved elements in the human genome
    Gill Bejerano
    Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA
    Science 304:1321-5. 2004
    ..of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development...
  47. ncbi Use of computer-designed group II introns to disrupt Escherichia coli DExH/D-box protein and DNA helicase genes
    Jiri Perutka
    Institute for Cellular and Molecular Biology, Department of Chemistry and Biochemistry, and Section of Molecular, Genetics and Microbiology, School of Biological Sciences, University of Texas at Austin, Austin, TX 78712, USA
    J Mol Biol 336:421-39. 2004
    Mobile group II introns are site-specific retroelements that use a novel mobility mechanism in which the excised intron RNA inserts directly into a DNA target site and is then reverse transcribed by the associated intron-encoded protein...
  48. pmc Origins of recently gained introns in Caenorhabditis
    Avril Coghlan
    Department of Genetics, Smurfit Institute, University of Dublin, Trinity College, Dublin 2, Ireland
    Proc Natl Acad Sci U S A 101:11362-7. 2004
    The genomes of the nematodes Caenorhabditis elegans and Caenorhabditis briggsae both contain approximately 100,000 introns, of which >6,000 are unique to one or the other species...
  49. doi Birth of new spliceosomal introns in fungi by multiplication of introner-like elements
    Ate van der Burgt
    Laboratory of Phytopathology, Wageningen University, 6708PB Wageningen, The Netherlands
    Curr Biol 22:1260-5. 2012
    Spliceosomal introns are noncoding sequences that separate exons in eukaryotic genes and are removed from pre-messenger RNAs by the splicing machinery...
  50. doi Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
    Patrick Edery
    Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, F 69677, France
    Science 332:240-3. 2011
    ..Our findings demonstrate a crucial role of the minor spliceosome component U4atac snRNA in early human development and postnatal survival...
  51. ncbi Mechanisms of alternative pre-messenger RNA splicing
    Douglas L Black
    Department of Microbiology, Immunology, and Molecular Genetics, Howard Hughes Medical Institute, University of California Los Angeles, Los Angeles, California 90095 1662, USA
    Annu Rev Biochem 72:291-336. 2003
    ..How these regulators are combined into complex systems of tissue-specific splicing is discussed. In conclusion, very recent studies are presented that point to new directions for understanding alternative splicing and its mechanisms...
  52. pmc The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing
    M Bryan Warf
    Institute of Molecular Biology and Department of Chemistry, University of Oregon, Eugene, OR 97403, USA
    Proc Natl Acad Sci U S A 106:9203-8. 2009
    ..Thus, U2AF65 binding can be blocked either by MBNL1 binding or by the stabilization of RNA secondary structure...
  53. pmc Divergence of duplicate genes in exon-intron structure
    Guixia Xu
    State Key Laboratory of Systematic and Evolutionary Botany, Institute of Botany, Chinese Academy of Sciences, Beijing 100093, China
    Proc Natl Acad Sci U S A 109:1187-92. 2012
    ..This finding suggests that structural divergences have played a more important role during the evolution of duplicate than nonduplicate genes...
  54. doi The role of reverse transcriptase in intron gain and loss mechanisms
    Noa E Cohen
    Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, The Hebrew University of Jerusalem, Jerusalem, Israel
    Mol Biol Evol 29:179-86. 2012
    ..In contrast, we suggest that RT-mediated intron loss is a mechanism that is very efficient in removing introns, and thus, its levels of activity may be a major determinant of intron number...
  55. pmc Ubiquitous internal gene duplication and intron creation in eukaryotes
    Xiang Gao
    Department of Biology, Indiana University, 1001 East Third Street, Bloomington, IN 47405, USA
    Proc Natl Acad Sci U S A 106:20818-23. 2009
    ..At least 7-30% of such genes have acquired novel introns, either because a prior intron in the same gene has been duplicated, or more commonly, because a spatial change ..
  56. ncbi Microsatellites within genes: structure, function, and evolution
    You Chun Li
    Institute of Evolution, University of Haifa, Haifa, Israel
    Mol Biol Evol 21:991-1007. 2004
    ..distributions within expressed sequence tags (ESTs) and genes including protein-coding, 3'-UTRs and 5'-UTRs, and introns; and discuss the consequences of SSR repeat-number changes in those regions of both prokaryotes and eukaryotes...
  57. ncbi Human housekeeping genes are compact
    Eli Eisenberg
    Compugen Ltd, 72 Pinchas Rosen Street, Tel Aviv 69512, Israel
    Trends Genet 19:362-5. 2003
  58. pmc The mirtron pathway generates microRNA-class regulatory RNAs in Drosophila
    Katsutomo Okamura
    Memorial Sloan Kettering Cancer Center, Department of Developmental Biology, 1275 York Ave, Box 252, New York, NY 10021, USA
    Cell 130:89-100. 2007
    ..These findings reveal that mirtrons are an alternate source of miRNA-type regulatory RNAs...
  59. ncbi Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    C L Liquori
    Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
    Science 293:864-7. 2001
    ..Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2...
  60. pmc The peculiarities of large intron splicing in animals
    Samuel Shepard
    Department of Medicine, University of Toledo, Toledo, Ohio, USA
    PLoS ONE 4:e7853. 2009
    In mammals a considerable 92% of genes contain introns, with hundreds and hundreds of these introns reaching the incredible size of over 50,000 nucleotides...
  61. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  62. ncbi The tertiary structure of group II introns: implications for biological function and evolution
    Anna Marie Pyle
    Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute and Yale University, New Haven, CT, USA
    Crit Rev Biochem Mol Biol 45:215-32. 2010
    Group II introns are some of the largest ribozymes in nature, and they are a major source of information about RNA assembly and tertiary structural organization...
  63. doi The ribozyme core of group II introns: a structure in want of partners
    François Michel
    Centre de Génétique Moléculaire du CNRS, 1 Avenue de la Terrasse, 91190 Gif sur Yvette, France
    Trends Biochem Sci 34:189-99. 2009
    Group II introns contain a large ribozyme, which catalyzes self-splicing, and the coding sequence of a reverse transcriptase, the function of which is to cooperate with the ribozyme to achieve genomic mobility...
  64. doi De novo origin of new genes with introns in Plasmodium vivax
    Zefeng Yang
    Department of Biology, East Carolina University, Greenville, NC 27858, USA
    FEBS Lett 585:641-4. 2011
    ..genes have often been suggested to be initially intronless, five of the genes identified in our analysis contain introns in their coding regions...
  65. ncbi Splicing segregation: the minor spliceosome acts outside the nucleus and controls cell proliferation
    Harald König
    Forschungszentrum Karlsruhe GmbH, Institut für Toxikologie und Genetik, Postfach 3640, 76021 Karlsruhe, Germany
    Cell 131:718-29. 2007
    ..We report here that partially spliced pre-mRNAs containing minor-class introns undergo nuclear export and that minor-class snRNAs are predominantly cytoplasmic in vertebrates...
  66. pmc Intron-dominated genomes of early ancestors of eukaryotes
    Eugene V Koonin
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    J Hered 100:618-23. 2009
    Evolutionary reconstructions using maximum likelihood methods point to unexpectedly high densities of introns in protein-coding genes of ancestral eukaryotic forms including the last common ancestor of all extant eukaryotes...
  67. ncbi The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    M Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 10:2687-700. 2001
    ..Almost all of those snoRNAs are encoded within introns of this large transcript...
  68. pmc Characterization of intron loss events in mammals
    Jasmin Coulombe-Huntington
    Department of Human Genetics, McGill University, Montreal, Quebec H3A 1A4, Canada
    Genome Res 17:23-32. 2007
    ..The majority (68%) of the deleted introns were extremely small (<150 bp), significantly smaller than average...
  69. pmc Nucleomorph genome of Hemiselmis andersenii reveals complete intron loss and compaction as a driver of protein structure and function
    Christopher E Lane
    Canadian Institute for Advanced Research, Integrated Microbial Biodiversity Program, Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada B3H 1X5
    Proc Natl Acad Sci U S A 104:19908-13. 2007
    ..nucleomorph genome of the cryptophyte Hemiselmis andersenii and show that it is completely devoid of spliceosomal introns and genes for splicing RNAs-a case of complete intron loss in a nuclear genome. Comparison of H...
  70. pmc Rates of in situ transcription and splicing in large human genes
    Jarnail Singh
    Department of Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Nat Struct Mol Biol 16:1128-33. 2009
    ..8 kb min(-1) and is similar whether transcribing long introns or exon-rich regions...
  71. pmc Stochastic noise in splicing machinery
    Eugene Melamud
    Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, 9600 Gudelsky Drive, Rockville, MD 20850, USA
    Nucleic Acids Res 37:4873-86. 2009
    ..abundance can be predicted by a simple stochastic noise model that takes into account two factors: the number of introns in a gene and the expression level of a gene...
  72. pmc Nuclear expression of a group II intron is consistent with spliceosomal intron ancestry
    Venkata R Chalamcharla
    Wadsworth Center, New York State Department of Health, Albany, 12208, USA
    Genes Dev 24:827-36. 2010
    Group II introns are self-splicing RNAs found in eubacteria, archaea, and eukaryotic organelles...
  73. pmc A novel role for minimal introns: routing mRNAs to the cytosol
    Jiang Zhu
    CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
    PLoS ONE 5:e10144. 2010
    b>Introns and their splicing are tightly coupled with the subsequent mRNA maturation steps, especially nucleocytoplasmic export...
  74. pmc An organellar maturase associates with multiple group II introns
    Reimo Zoschke
    Institute of Biology, Humboldt University, 10115 Berlin, Germany
    Proc Natl Acad Sci U S A 107:3245-50. 2010
    Bacterial group II introns encode maturase proteins required for splicing. In organelles of photosynthetic land plants, most of the group II introns have lost the reading frames for maturases...
  75. pmc High-density yeast-tiling array reveals previously undiscovered introns and extensive regulation of meiotic splicing
    Kara Juneau
    Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 104:1522-7. 2007
    ..To this end, we have developed a genome-wide assay for mapping introns in Saccharomyces cerevisiae...
  76. pmc A single IGF1 allele is a major determinant of small size in dogs
    Nathan B Sutter
    National Human Genome Research Institute, Building 50, Room 5349, 50 South Drive MSC 8000, Bethesda, MD 20892 8000, USA
    Science 316:112-5. 2007
    ..A single IGF1 single-nucleotide polymorphism haplotype is common to all small breeds and nearly absent from giant breeds, suggesting that the same causal sequence variant is a major contributor to body size in all small dogs...
  77. doi Long intronic noncoding RNA transcription: expression noise or expression choice?
    Rodrigo Louro
    Departamento de Bioquimica, Instituto de Quimica, Universidade de Sao Paulo, 05508 900 Sao Paulo, SP, Brazil
    Genomics 93:291-8. 2009
    ..Deciphering nature's choice of different types of messages conveyed by ncRNAs will shed light on the RNA-based layer of regulatory processes in eukaryotic cells...
  78. pmc A phylogeny of caenorhabditis reveals frequent loss of introns during nematode evolution
    Soochin Cho
    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48864, USA
    Genome Res 14:1207-20. 2004
    Since introns were discovered 26 years ago, people have wondered how changes in intron/exon structure occur, and what role these changes play in evolution...
  79. ncbi Group I introns: Moving in new directions
    Henrik Nielsen
    Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark Denmark
    RNA Biol 6:375-83. 2009
    Group I introns are genetic elements interrupting functional genes. They are removed from precursors at the RNA level and most catalyze their own splicing...
  80. pmc Exon array analyses across the NCI-60 reveal potential regulation of TOP1 by transcription pausing at guanosine quartets in the first intron
    William C Reinhold
    Laboratory of Molecular Pharmacology and Developmental Therapeutics Program, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20894, USA
    Cancer Res 70:2191-203. 2010
    ..The observations reported here suggest the hypothesis that there is a conserved negative transcription regulator within intron 1 of the TOP1 gene associated with a quadruplex-prone region...
  81. doi Comprehensive analysis of archaeal tRNA genes reveals rapid increase of tRNA introns in the order thermoproteales
    Junichi Sugahara
    Institute for Advanced Biosciences, Keio University, Tsuruoka, Yamagata, Japan
    Mol Biol Evol 25:2709-16. 2008
    ..tRNA genes in Archaea was estimated to be approximately 15% of the whole tRNA genes, and most of the introns were known to be located at canonical positions (nucleotide position between 37 and 38) of precursor tRNA (pre-..
  82. pmc Intron RNA editing is essential for splicing in plant mitochondria
    Benoît Castandet
    Laboratoire de Microbiologie Cellulaire et Moléculaire et Pathogénicité MCMP, UMR5234 CNRS Université Victor Segalen Bordeaux2 146 rue Léo Saignat 33076 Bordeaux Cedex, France
    Nucleic Acids Res 38:7112-21. 2010
    ..are found in non-coding regions at critical positions in the predicted secondary and tertiary structures of introns, suggesting that RNA editing could be important for splicing...
  83. pmc Release of SF3 from the intron branchpoint activates the first step of pre-mRNA splicing
    Rea M Lardelli
    Graduate Program, Department of Chemistry and Biochemistry, University of Texas at Austin, Austin, Texas 78712, USA
    RNA 16:516-28. 2010
    ..When the spliceosome attains the proper conformation and upon the function of Prp2p, SF3 is displaced from the branchpoint allowing first step chemistry to occur...
  84. doi hnRNP H1 and intronic G runs in the splicing control of the human rpL3 gene
    Annapina Russo
    Dipartimento di Biochimica e Biotecnologie Mediche, Universita Federico II, Napoli 80131, Italy
    Biochim Biophys Acta 1799:419-28. 2010
    ..We propose a working model in which rpL3 recruits hnRNP H1 and, through cooperation with other splicing factors, promotes selection of the alternative splice site...
  85. doi The emergence of 'hypervirulence' in Clostridium difficile
    Stephen T Cartman
    Centre for Biomolecular Sciences, School of Molecular Medical Sciences, Nottingham Digestive Diseases Centre NIHR Biomedical Research Unit, University of Nottingham, University Park, Nottingham, NG7 2RD, UK
    Int J Med Microbiol 300:387-95. 2010
    ..The identification of virulence factors using this approach should help lead to the rational development of therapeutic countermeasures against CDAD...
  86. pmc A diversity of uncharacterized reverse transcriptases in bacteria
    Dawn M Simon
    Department of Biological Sciences, University of Calgary, Calgary, Alberta, Canada
    Nucleic Acids Res 36:7219-29. 2008
    ..reverse transcriptases (RTs) are rare in bacteria, with only three characterized classes: retrons, group II introns and diversity-generating retroelements (DGRs)...
  87. pmc Global regulation of alternative splicing during myogenic differentiation
    Christopher S Bland
    Department of Pathology and Immunology, Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Nucleic Acids Res 38:7651-64. 2010
    ..These findings show that within a developmental context, AS is a highly regulated and conserved process, suggesting a major role for AS regulation in myogenic differentiation...
  88. doi Remarkable abundance and evolution of mobile group II introns in Wolbachia bacterial endosymbionts
    Sébastien Leclercq
    Centre National de la Recherche Scientifique UMR 6556 Ecologie, Evolution, Symbiose, Universite de Poitiers, Poitiers, France
    Mol Biol Evol 28:685-97. 2011
    ..In this study, we focused on another class of transposable elements, group II introns, and conducted an in-depth analysis of their content and the microevolutionary processes responsible for their ..
  89. pmc Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls
    Chaolin Zhang
    Laboratory of Molecular Neuro Oncology, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 329:439-43. 2010
    ..Thus, we have developed a general approach to understanding mammalian RNA regulation at the systems level...
  90. pmc The in vivo kinetics of RNA polymerase II elongation during co-transcriptional splicing
    Yehuda Brody
    The Mina and Everard Goodman Faculty of Life Sciences and Institute of Nanotechnology, Bar Ilan University, Ramat Gan, Israel
    PLoS Biol 9:e1000573. 2011
    ..We generated a family of inducible gene constructs containing increasing numbers of introns and exons, which were stably integrated in human cells to serve as actively transcribing gene loci...
  91. ncbi Investigation of loss and gain of introns in the compact genomes of pufferfishes (Fugu and Tetraodon)
    Yong Hwee Loh
    Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, Biopolis, Singapore
    Mol Biol Evol 25:526-35. 2008
    ..The introns lost in pufferfishes and mammals are significantly shorter than the mean size of introns in the genome...
  92. ncbi Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    F Lin
    Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029
    J Biol Chem 268:16321-6. 1993
    ..Analysis of the intron positions in these genes supports the hypothesis that the nuclear lamins and other intermediate filament proteins arose from a common ancestor...
  93. pmc Genome-wide functional analysis of human 5' untranslated region introns
    Can Cenik
    Harvard Medical School, Department of Biological Chemistry and Molecular Pharmacology, 250 Longwood Avenue, SGMB 322, Boston, MA 02115, USA
    Genome Biol 11:R29. 2010
    Approximately 35% of human genes contain introns within the 5' untranslated region (UTR). Introns in 5'UTRs differ from those in coding regions and 3'UTRs with respect to nucleotide composition, length distribution and density...
  94. ncbi Imprinted expression of the Igf2r gene depends on an intronic CpG island
    A Wutz
    Institute of Molecular Pathology, Vienna, Austria
    Nature 389:745-9. 1997
    ..The production of an antisense RNA by the repressed parental allele is reminiscent of the imprinting of the Igf2/H19 gene pair and may indicate that expression competition could play a general role in imprinting...
  95. doi Gene expression enhancement mediated by the 5' UTR intron of the rice rubi3 gene varied remarkably among tissues in transgenic rice plants
    Jianli Lu
    Department of Crop Science, North Carolina State University, Raleigh, NC 27695, USA
    Mol Genet Genomics 279:563-72. 2008
    b>Introns are important sequence elements that modulate the expression of genes. Using the GUS reporter gene driven by the promoter of the rice (Oryza sativa L...
  96. doi Mystery of intron gain: new data and new models
    Scott William Roy
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20892, USA
    Trends Genet 25:67-73. 2009
    Despite their ubiquity, the mechanisms and evolutionary forces responsible for the origins of spliceosomal introns remain mysterious...
  97. pmc Intronic microRNAs support their host genes by mediating synergistic and antagonistic regulatory effects
    Dominik Lutter
    Institute of Bioinformatics and Systems Biology, CMB, Helmholtz Zentrum Munchen, Germany
    BMC Genomics 11:224. 2010
    ..About 37% of mammalian microRNAs appear to be located within introns of protein coding genes, linking their expression to the promoter-driven regulation of the host gene...
  98. pmc Scipio: using protein sequences to determine the precise exon/intron structures of genes and their orthologs in closely related species
    Oliver Keller
    Universitat Gottingen, Institut fur Informatik, Lotzestr 16 18, 37083 Göttingen, Germany
    BMC Bioinformatics 9:278. 2008
    ..Finding the corresponding gene of a given protein sequence by means of conventional tools is error prone, and cannot be completed without manual inspection, which is time consuming and requires considerable experience...
  99. pmc MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis
    S Hani Najafi-Shoushtari
    Massachusetts General Hospital Cancer Center, Charlestown, MA 02129, USA
    Science 328:1566-9. 2010
    ..We show here that microRNAs (miR-33a/b) embedded within introns of the SREBP genes target the adenosine triphosphate-binding cassette transporter A1 (ABCA1), an important ..
  100. ncbi Tissue-dependent enhancement of transgene expression by introns of replacement histone H3 genes of Arabidopsis
    N Chaubet-Gigot
    , CNRS, Universit Louis Pasteur, Strasbourg, France
    Plant Mol Biol 45:17-30. 2001
    ..We demonstrate that the introns located within the 5'-untranslated regions (5'-UTR) of the two Arabidopsis replacement H3 genes will abolish the ..
  101. pmc Complete plastid genome sequence of the chickpea (Cicer arietinum) and the phylogenetic distribution of rps12 and clpP intron losses among legumes (Leguminosae)
    Robert K Jansen
    Section of Integrative Biology and Institute of Cellular and Molecular Biology, Biological Laboratories 404, University of Texas, Austin, TX 78712, USA
    Mol Phylogenet Evol 48:1204-17. 2008
    ..Two genes have lost their introns, one in the 3'exon of the transpliced gene rps12, and the one between exons 1 and 2 of clpP; this represents the ..

Research Grants101 found, 100 shown here

  1. MECHANISM OF PRE-MRNA SPLICING
    MAGDA KONARSKA; Fiscal Year: 2009
    ..Typically, splice site signals of alternatively spliced introns deviate from the consensus, and are often accompanied by splicing enhancer motifs...
  2. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2010
    ..that occurs in every cell of the human body where the spliceosome processes pre-mRNA transcripts by removing introns (non-coding regions) and splicing the exons (coding regions) together to form a mature mRNA transcript...
  3. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    ..that occurs in every cell of the human body where the spliceosome processes pre-mRNA transcripts by removing introns (non-coding regions) and splicing the exons (coding regions) together to form a mature mRNA transcript...
  4. Role of Coxiella burnetii group I introns in growth modulation
    Michael F Minnick; Fiscal Year: 2010
    ..Preliminary data show that Coxiella's single 23S rDNA encodes two self-splicing, group I introns that inhibit ribosome function. We hypothesize that group I introns play central roles in C...
  5. Role of Coxiella burnetii group I introns in growth modulation
    MICHAEL MINNICK; Fiscal Year: 2009
    ..Preliminary data show that Coxiella's single 23S rDNA encodes two self-splicing, group I introns that inhibit ribosome function. We hypothesize that group I introns play central roles in C...
  6. Mutations detection and classification in ADPKD
    Sandro Rossetti; Fiscal Year: 2010
    ..Such approach does not explore deep introns and may be prone to allele drop-out due to the high number of primers used...
  7. HLA and schizophrenia: a high-throughput sequencing study
    DOUGLAS FREDERICK LEVINSON; Fiscal Year: 2012
    ..The entire targeted block of almost all exons and introns in 11 HLA genes in 8 loci (A, B, C, DRB1/3/4/5, DQA1, DQB1, DPA1, DPB1) will be amplified by long-range PCR, ..
  8. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 1999
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  9. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2001
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  10. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2001
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  11. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2002
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  12. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2003
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  13. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2000
    ..mitochondrial DNA (mitDNA) is extremely vulnerable to attack by environmental carcinogens because it contains no introns, has no protective histones and is continuously exposed to reactive free radicals produced within the ..
  14. Treatment for Dysmyelination in PMD and SPG2
    Pamela E Knapp; Fiscal Year: 2012
    ..The most severe forms of PMD are associated with missense mutations in introns or exons of the PLP1 gene. Interestingly, complete gene deletion results in a milder neurologic impairment...
  15. Involvement of Proteins in Splicing Group I and Group II Introns
    Alan Lambowitz; Fiscal Year: 2009
    ..applicant): The proposed research is a continued study of the involvement of proteins in splicing group I and II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins to help fold the intron RNA into the ..
  16. Involvement of Proteins in Splicing Group I and Group II Introns
    Alan Lambowitz; Fiscal Year: 2009
    The proposed research is a continued study of the involvement of proteins in splicing group I and II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins to help fold the intrpn RNA into the catalyti- cally ..
  17. Involvement of Proteins in Splicing Group I and Group II Introns
    Alan Lambowitz; Fiscal Year: 2007
    The proposed research is a continued study of the involvement of proteins in splicing group I and II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins to help fold the intron RNA into the catalyti- ..
  18. Involvement of Proteins in Splicing Group I and Group II Introns
    Alan M Lambowitz; Fiscal Year: 2010
    ..applicant): The proposed research is a continued study of the involvement of proteins in splicing group I and II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins to help fold the intron RNA into the ..
  19. BIOCHEMISTRY OF PRE-MRNA SPLICING
    ADRIAN KRAINER; Fiscal Year: 2007
    Pre-mRNA splicing is an essential step in gene expression. It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein synthesis in the ..
  20. BIOCHEMISTRY OF PRE-MRNA SPLICING
    ADRIAN KRAINER; Fiscal Year: 2009
    ..It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein ..
  21. ESTABLISHMENT OF RESEARCH RESOURCEFOR THE IDENTIFICATION OF GENETIC AND ENVIRONM
    VAINORIOUS E; Fiscal Year: 2009
    ..Some of the same genes have been resequenced in an additional set of 20 samples, and, in a subset of these, the introns and promoter regions have been sequenced as well...
  22. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
    ..It involves precise excision of introns and joining of exons from primary transcripts in the nucleus to generate mature mRNA, the template for protein ..
  23. BIOCHEMISTRY OF INVERTEBRATE GLOBINS AND HEMOCYANINS
    AUSTEN RIGGS; Fiscal Year: 1990
    ..The leghemoglobin gene of leguminous plants has 3 introns and 4 exons in contrast to the vertebrate globin gene which has 2 introns...
  24. STRUCTURE OF MITOCHONDRIAL DNA
    David Wolstenholme; Fiscal Year: 1991
    ..The precise sites of insertion of group I introns in the Metridium ND5 and COI genes will be determined...
  25. Group II Intron Mobility and Gene Targeting
    Alan Lambowitz; Fiscal Year: 2009
    The proposed research is a continued study of mobile group II introns and their applications in gene targeting...
  26. Group II Intron Mobility and Gene Targeting
    Alan M Lambowitz; Fiscal Year: 2010
    The proposed research is a continued study of mobile group II introns and their applications in gene targeting...
  27. Functional and structural characterization of spliceosomal cyclophilins
    Tara L Davis; Fiscal Year: 2010
    ..provided by applicant): The spliceosome is a complex and dynamic collection of RNA and proteins that removes introns from precursor mRNA transcripts...
  28. Transcriptional elongation and splicing in human genes in situ
    Richard A Padgett; Fiscal Year: 2010
    ..Some genes can exceed one million base pairs in length. Many of these long genes also contain introns of hundreds of kilobases in length...
  29. MECHANISM OF PRE-MRNA SPLICING
    MAGDA KONARSKA; Fiscal Year: 2010
    ..Typically, splice site signals of alternatively spliced introns deviate from the consensus, and are often accompanied by splicing enhancer motifs...
  30. SPLICING OF MRNA PRECURSORS
    Michael R Green; Fiscal Year: 2010
    ..The primary transcripts of most eukaryotic genes (precursor mRNAs;pre-mRNAs) contain intervening sequences (introns) that are removed by RNA splicing in a two-step pathway...
  31. Group II Intron Mobility and Gene Targeting
    Alan Lambowitz; Fiscal Year: 2004
    The proposed research is a continued study of group II intron mobility mechanisms and the development of group II introns as vectors for targeted gene disruption and site-specific DNA insertion...
  32. GROUP II INTRON RNA SPLICING AND MOBILITY
    Alan Lambowitz; Fiscal Year: 2002
    ..continued biochemical-genetics studies of the protein-dependent splicing and mobility reactions of group II introns. Group II intron mobility is mediated by intron-encoded reverse transcriptases that also function as maturases to ..
  33. Group II Intron Mobility and Gene Targeting
    Alan Lambowitz; Fiscal Year: 2003
    The proposed research is a continued study of group II intron mobility mechanisms and the development of group II introns as vectors for targeted gene disruption and site-specific DNA insertion...
  34. GROUP II INTRON RNA SPLICING AND MOBILITY
    Alan Lambowitz; Fiscal Year: 2001
    ..continued biochemical-genetics studies of the protein-dependent splicing and mobility reactions of group II introns. Group II intron mobility is mediated by intron-encoded reverse transcriptases that also function as maturases to ..
  35. Group II Intron Mobility and Gene Targeting
    Alan Lambowitz; Fiscal Year: 2005
    The proposed research is a continued study of group II intron mobility mechanisms and the development of group II introns as vectors for targeted gene disruption and site-specific DNA insertion...
  36. Group II Intron Mobility and Gene Targeting
    Alan Lambowitz; Fiscal Year: 2006
    ..The proposed research is a continued study of group II intron mobility mechanisms and the development of group II introns as vectors for targeted gene disruption and site-specific DNA insertion...
  37. GROUP 11 INTRON RNA SPLICING AND MOBILITY
    Alan Lambowitz; Fiscal Year: 1999
    ..continued biochemical-genetics studies of the protein-dependent splicing and mobility reactions of group II introns. Group II intron mobility is mediated by intron-encoded reverse transcriptases that also function as maturases to ..
  38. GROUP II INTRON RNA SPLICING AND MOBILITY
    Alan Lambowitz; Fiscal Year: 2000
    ..continued biochemical-genetics studies of the protein-dependent splicing and mobility reactions of group II introns. Group II intron mobility is mediated by intron-encoded reverse transcriptases that also function as maturases to ..
  39. The Mammalian Cellular Splicing Machine - Structure and Function
    Ruth Sperling; Fiscal Year: 2010
    Most eukaryotic pre-mRNAs contain non-coding sequences (introns) that must be removed in order to accurately place the coding sequences (exons) in the correct reading frame...
  40. NONSENSE RNA SURVEILLANCE IN HEALTH AND DISEASE
    Harry Dietz; Fiscal Year: 1999
    ..harmful effects of truncated proteins; differences between yeast and mammals might then reflect the abundance of introns in mammals and the paucity of introns in yeast. Dr...
  41. The Mammalian Cellular Splicing Machine - Structure and Function
    Ruth Sperling; Fiscal Year: 2009
    Most eukaryotic pre-mRNAs contain non-coding sequences (introns) that must be removed in order to accurately place the coding sequences (exons) in the correct reading frame...
  42. VACCINIA DNA REPLICATION--GENETICS AND MOLECULAR BIOLOGY
    Paula Traktman; Fiscal Year: 1993
    ..Viral genes, which lack introns, are regulated by short motifs which determine their temporal expression...
  43. RNA SPLICING IN MITOCHONDRIA
    Alan Lambowitz; Fiscal Year: 1990
    The proposed research is a biochemical-genetic study of protein factors that function in splicing of group I introns, using Neurospora and yeast mitochondria as the experimental systems...
  44. NONSENSE RNA SURVEILLANCE IN HEALTH AND DISEASE
    Harry Dietz; Fiscal Year: 2000
    ..harmful effects of truncated proteins; differences between yeast and mammals might then reflect the abundance of introns in mammals and the paucity of introns in yeast. Dr...
  45. Involvement of Proteins in Group I + II Intron Splicing
    Alan Lambowitz; Fiscal Year: 2003
    The proposed research is a continued study of the involvement of proteins in splicing group I and group II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins for efficient splicing in vivo to help fold ..
  46. Involvement of Proteins in Group I + II Intron Splicing
    Alan Lambowitz; Fiscal Year: 2003
    The proposed research is a continued study of the involvement of proteins in splicing group I and group II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins for efficient splicing in vivo to help fold ..
  47. Involvement of Proteins in Group I + II Intron Splicing
    Alan Lambowitz; Fiscal Year: 2004
    The proposed research is a continued study of the involvement of proteins in splicing group I and group II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins for efficient splicing in vivo to help fold ..
  48. Involvement of Proteins in Group I + II Intron Splicing
    Alan Lambowitz; Fiscal Year: 2006
    The proposed research is a continued study of the involvement of proteins in splicing group I and group II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins for efficient splicing in vivo to help fold ..
  49. Involvement of Proteins in Group I + II Intron Splicing
    Alan Lambowitz; Fiscal Year: 2005
    The proposed research is a continued study of the involvement of proteins in splicing group I and group II introns. These introns use RNA-catalyzed splicing mechanisms, but require proteins for efficient splicing in vivo to help fold ..
  50. Control of Cardiogenesis by microRNA Editing
    Kazuko Nishikura; Fiscal Year: 2009
    ..are non-coding RNAs that contain inverted repeats of repetitive elements such as Alu and LINE located within introns and 3'UTRs. The biological significance of non-coding, repetitive RNA editing is largely unknown...
  51. The influence of genotype on the outcome of gene transfer in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2010
    ..to rescue beta-thalassemia in mice by lentiviral-mediated transfer of the human beta-globin gene, its promoter, introns and large elements of the locus control region...
  52. The Catalytic Mechanism of Nuclear Premessenger RNA Splicing by the Spliceosome
    Jonathan P Staley; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Eukaryotic genes, including most human genes, are interrupted by numerous introns. After transcription of such genes, the introns are excised in two phosphoryl transfer reactions catalyzed by the ..
  53. REGULATION AND GENE EXPRESSION OF CYTOCHROME C
    Fred Sherman; Fiscal Year: 2000
    ..is responsible for degrading RNA in nuclei, including abnormal cyc1-512 mRNAs, normal mRNAs retained in nuclei, introns of mRNA, introns of tRNA, and spacer sequences processed from rRNA...
  54. REGULATION AND GENE EXPRESSION OF CYTOCHROME C
    Fred Sherman; Fiscal Year: 1999
    ..is responsible for degrading RNA in nuclei, including abnormal cyc1-512 mRNAs, normal mRNAs retained in nuclei, introns of mRNA, introns of tRNA, and spacer sequences processed from rRNA...
  55. REGULATION AND GENE EXPRESSION OF CYTOCHROME C
    Fred Sherman; Fiscal Year: 2001
    ..is responsible for degrading RNA in nuclei, including abnormal cyc1-512 mRNAs, normal mRNAs retained in nuclei, introns of mRNA, introns of tRNA, and spacer sequences processed from rRNA...
  56. Physical and functional probing of DEAD-box proteins as general RNA chaperones
    Rick Russell; Fiscal Year: 2009
    ..was shown in 2002 that the Neurospora crassa CYT-19 protein functions in folding of several mitochondrial group I introns. Further work indicated that CYT-19 can also interact productively with group II introns, indicating that it ..
  57. Physical and functional probing of DEAD-box proteins as general RNA chaperones
    Rick Russell; Fiscal Year: 2010
    ..was shown in 2002 that the Neurospora crassa CYT-19 protein functions in folding of several mitochondrial group I introns. Further work indicated that CYT-19 can also interact productively with group II introns, indicating that it ..
  58. Analysis of Group I and II Introns in Mammalian Cells
    Bruce Sullenger; Fiscal Year: 2003
    The overall goal of this proposal is to explore the ability of group I and group II introns to repair genetic instructions inside mammalian cells...
  59. Analysis of Group I and II Introns in Mammalian Cells
    Bruce Sullenger; Fiscal Year: 2002
    The overall goal of this proposal is to explore the ability of group I and group II introns to repair genetic instructions inside mammalian cells...
  60. Analysis of Group I and II Introns in Mammalian Cells
    Bruce Sullenger; Fiscal Year: 2004
    The overall goal of this proposal is to explore the ability of group I and group II introns to repair genetic instructions inside mammalian cells...
  61. Analysis of Group I and II Introns in Mammalian Cells
    Bruce Sullenger; Fiscal Year: 2005
    The overall goal of this proposal is to explore the ability of group I and group II introns to repair genetic instructions inside mammalian cells...
  62. Kinetic Dissection of the RNA Chaperone Protein CYT-19
    Rick Russell; Fiscal Year: 2004
    ..colleagues showed that the Neurospora crassa CYT-19 protein functions by accelerating folding of several group I introns. These introns also require the splicing factor CYT-18, additionally suggesting that CYT-19 may be targeted to ..
  63. Kinetic Dissection of the RNA Chaperone Protein CYT-19
    Rick Russell; Fiscal Year: 2005
    ..colleagues showed that the Neurospora crassa CYT-19 protein functions by accelerating folding of several group I introns. These introns also require the splicing factor CYT-18, additionally suggesting that CYT-19 may be targeted to ..
  64. Kinetic Dissection of the RNA Chaperone Protein CYT-19
    Rick Russell; Fiscal Year: 2006
    ..colleagues showed that the Neurospora crassa CYT-19 protein functions by accelerating folding of several group I introns. These introns also require the splicing factor CYT-18, additionally suggesting that CYT-19 may be targeted to ..
  65. Kinetic Dissection of the RNA Chaperone Protein CYT-19
    Rick Russell; Fiscal Year: 2007
    ..colleagues showed that the Neurospora crassa CYT-19 protein functions by accelerating folding of several group I introns. These introns also require the splicing factor CYT-18, additionally suggesting that CYT-19 may be targeted to ..
  66. Genetic circuits based on allosteric ribozymes
    Andrew D Ellington; Fiscal Year: 2010
    ..developed a variety of aptazymes, based on ribozyme and deoxyribozyme ligases and Group I self-splicing introns, and have also developed novel assay formats for these aptazymes...
  67. Genetic circuits based on allosteric ribozymes
    Andrew Ellington; Fiscal Year: 2009
    ..developed a variety of aptazymes, based on ribozyme and deoxyribozyme ligases and Group I self-splicing introns, and have also developed novel assay formats for these aptazymes...
  68. Genetic circuits based on allosteric ribozymes
    Andrew Ellington; Fiscal Year: 2006
    ..developed a variety of aptazymes, based on ribozyme and deoxyribozyme ligases and Group I self-splicing introns, and have also developed novel assay formats for these aptazymes...
  69. Genetic circuits based on allosteric ribozymes
    Andrew Ellington; Fiscal Year: 2007
    ..developed a variety of aptazymes, based on ribozyme and deoxyribozyme ligases and Group I self-splicing introns, and have also developed novel assay formats for these aptazymes...
  70. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2002
    Most eukaryotic genes are interrupted by non-coding introns that must be removed from pre-mRNA transcripts for the production of functional proteins...
  71. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2003
    Most eukaryotic genes are interrupted by non-coding introns that must be removed from pre-mRNA transcripts for the production of functional proteins...
  72. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2004
    Most eukaryotic genes are interrupted by non-coding introns that must be removed from pre-mRNA transcripts for the production of functional proteins...
  73. Mechanisms Regulating Alternative pre-mRNA Splicing
    James Patton; Fiscal Year: 2005
    Most eukaryotic genes are interrupted by non-coding introns that must be removed from pre-mRNA transcripts for the production of functional proteins...
  74. MECHANISMS OF JUXTAGLOMERULAR CELL RENIN GENE EXPRESSION
    Daniel Catanzaro; Fiscal Year: 1999
    ....
  75. Functional and structural characterization of spliceosomal cyclophilins
    Tara L Davis; Fiscal Year: 2012
    PROJECT SUMMARY The spliceosome is a complex and dynamic collection of RNA and proteins that removes introns from precursor mRNA transcripts...
  76. TRANS-SPLICING IN C ELEGANS
    Thomas Blumenthal; Fiscal Year: 1992
    ..In C. elegans this process is essentially similar to splicing in higher eucaryotes, except the introns tend to be much smaller...
  77. MOLECULAR ANALYSIS OF THE WAXY MUTANTS OF MAIZE
    Susan Wessler; Fiscal Year: 1993
    ..Whereas Group I and II introns are thought to be evolving into mobile DNA, the Ds elements may be mobile DNA evolving into introns...
  78. MOLECULAR ANALYSIS OF THE WAXY MUTANTS OF MAIZE
    Susan Wessler; Fiscal Year: 1991
    ..Whereas Group I and II introns are thought to be evolving into mobile DNA, the Ds elements may be mobile DNA evolving into introns...
  79. EXON LIGATION--THE SPLICEOSOME AND GROUP 11 INTRONS
    Melissa Moore; Fiscal Year: 1999
    The removal of introns by RNA splicing is an essential step in the expression of almost all human genes...
  80. MOLECULAR ANALYSIS OF THE WAXY MUTANTS OF MAIZE
    Susan Wessler; Fiscal Year: 1992
    ..Whereas Group I and II introns are thought to be evolving into mobile DNA, the Ds elements may be mobile DNA evolving into introns...
  81. MECHANISM OF SEQUENCE SPECIFIC RETROTRANSPOSITION OF R2
    Thomas Eickbush; Fiscal Year: 1999
    ..target primed reverse transcription mechanism is believed to used by most other non-LTR elements, the group II introns, an is likely the origin of SINEs, processed pseudogenes and maybe even of introns...
  82. INVOLVEMENT OF PROTEINS IN SPLICING GROUP I INTRONS
    Alan Lambowitz; Fiscal Year: 2000
    ..protein, the mitochondrial tyrosyl-tRNA synthetase (mt TyrRS), and other proteins in the splicing of group I introns. Group I introns use RNA catalyzed splicing reactions, but require proteins for efficient splicing in vivo, ..
  83. INVOLVEMENT OF PROTEINS IN SPLICING GROUP I INTRONS
    Alan Lambowitz; Fiscal Year: 1999
    ..protein, the mitochondrial tyrosyl-tRNA synthetase (mt TyrRS), and other proteins in the splicing of group I introns. Group I introns use RNA catalyzed splicing reactions, but require proteins for efficient splicing in vivo, ..
  84. INVOLVEMENT OF PROTEINS IN SPLICING GROUP I INTRONS
    Alan Lambowitz; Fiscal Year: 2001
    ..protein, the mitochondrial tyrosyl-tRNA synthetase (mt TyrRS), and other proteins in the splicing of group I introns. Group I introns use RNA catalyzed splicing reactions, but require proteins for efficient splicing in vivo, ..
  85. INVOLVEMENT OF PROTEINS IN SPLICING GROUP I INTRONS
    Alan Lambowitz; Fiscal Year: 2002
    ..protein, the mitochondrial tyrosyl-tRNA synthetase (mt TyrRS), and other proteins in the splicing of group I introns. Group I introns use RNA catalyzed splicing reactions, but require proteins for efficient splicing in vivo, ..
  86. INVOLVEMENT OF PROTEINS IN SPLICING GROUP I INTRONS
    Alan Lambowitz; Fiscal Year: 1993
    ..protein, the mitochondrial tyrosyl-tRNA synthetase (mt TyrRS), and other proteins in the splicing of group I introns. Group I introns use RNA catalyzed splicing reactions, but require proteins for efficient splicing in vivo, ..
  87. REGULATION OF NORMAL AND DEFECTIVE HUMAN GENES
    LYNNE MAQUAT; Fiscal Year: 1999
    ..DNA rearrangements, the mutation of germline or somatic DNA, the inefficient or inaccurate removal of introns, or the failure to frameshift...
  88. Analysis of mRNA Polyadenylation across Species and Tissues
    Bin Tian; Fiscal Year: 2009
    ..In addition, a large fraction of human genes have polyadenylation events in introns, leading to mRNA variants with different protein coding sequence and indicating dynamic interplay between ..
  89. Analysis of mRNA Polyadenylation across Species and Tissues
    Bin Tian; Fiscal Year: 2009
    ..In addition, a large fraction of human genes have polyadenylation events in introns, leading to mRNA variants with different protein coding sequence and indicating dynamic interplay between ..
  90. GENE EXPRESSION IN CELL ORGANELLES
    RICHARD HALLICK; Fiscal Year: 1993
    How have introns evolved? Did they occur early in the prebiotic world and contribute to the formation of ancient genes by "exon shuffling," or have they been inserted into genes as mobile genetic elements throughout evolution? Important ..
  91. Biochemical Characterization of p68 RNA Helicase
    Zhi Ren Liu; Fiscal Year: 2007
    Summary Remove of introns from messenger RNA precursors (pre-mRNA) is an essential process in eukaryotic gene expression...
  92. ENDONUCLEASES OF INTERRUPTED PROKARYOTIC GENES
    Marlene Belfort; Fiscal Year: 1999
    DESCRIPTION: Dr. Belfort discovered the multiply interesting group one introns of prokaryotes in phage T4, and has since studied their occurrence, structure, and mechanisms of splicing and mobility...
  93. ENDONUCLEASES OF INTERRUPTED PROKARYOTIC GENES
    Marlene Belfort; Fiscal Year: 2000
    DESCRIPTION: Dr. Belfort discovered the multiply interesting group one introns of prokaryotes in phage T4, and has since studied their occurrence, structure, and mechanisms of splicing and mobility...
  94. ENDONUCLEASES OF INTERRUPTED PROKARYOTIC GENES
    Marlene Belfort; Fiscal Year: 2001
    DESCRIPTION: Dr. Belfort discovered the multiply interesting group one introns of prokaryotes in phage T4, and has since studied their occurrence, structure, and mechanisms of splicing and mobility...
  95. Differential regulation of multiple transgenes for treatment of eye disease
    RICHARD SAMULSKI; Fiscal Year: 2009
    ..To date, we have developed minimal alternative splicing introns capable of regulating transgene expression...
  96. SPLICING OF MRNA PRECURSORS
    Michael Green; Fiscal Year: 2007
    ..primary transcripts of eukaryotic structural genes (precursor mRNAs; pre-mRNAs) contain intervening sequences (introns) that are removed by RNA splicing...