small nuclear ribonucleoproteins

Summary

Summary: Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).

Top Publications

  1. ncbi Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    T Ozcelik
    Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305
    Nat Genet 2:265-9. 1992
  2. ncbi The biogenesis of the coiled body during early mouse development
    J Ferreira
    Institute of Histology and Embryology, Faculty of Medicine, University of Lisbon, Portugal
    Development 121:601-12. 1995
  3. ncbi The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
    Q Liu
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 90:1013-21. 1997
  4. ncbi Pre-mRNA splicing: awash in a sea of proteins
    Melissa S Jurica
    Howard Hughes Medical Institute, Department of Biochemistry, Brandeis University, 415 South Street, Waltham, MA 02454, USA
    Mol Cell 12:5-14. 2003
  5. ncbi Essential role for the SMN complex in the specificity of snRNP assembly
    Livio Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Science 298:1775-9. 2002
  6. pmc A novel nuclear structure containing the survival of motor neurons protein
    Q Liu
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    EMBO J 15:3555-65. 1996
  7. pmc HMBA releases P-TEFb from HEXIM1 and 7SK snRNA via PI3K/Akt and activates HIV transcription
    Xavier Contreras
    Department of Medicine, Rosalind Russell Medical Research Center, University of California San Francisco, San Francisco, California, USA
    PLoS Pathog 3:1459-69. 2007
  8. pmc A Sm-like protein complex that participates in mRNA degradation
    E Bouveret
    EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    EMBO J 19:1661-71. 2000
  9. ncbi The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    U Fischer
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 90:1023-9. 1997
  10. pmc Characterization of Sm-like proteins in yeast and their association with U6 snRNA
    A E Mayes
    Institute of Cell and Molecular Biology, University of Edinburgh, King s Buildings, Mayfield Road, Edinburgh EH9 3JR, UK
    EMBO J 18:4321-31. 1999

Detail Information

Publications290 found, 100 shown here

  1. ncbi Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    T Ozcelik
    Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305
    Nat Genet 2:265-9. 1992
    ..The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype...
  2. ncbi The biogenesis of the coiled body during early mouse development
    J Ferreira
    Institute of Histology and Embryology, Faculty of Medicine, University of Lisbon, Portugal
    Development 121:601-12. 1995
    ..Our results suggest that the embryonic 'nucleolus-like body' is a structural scaffold that nucleates independently the formation of the coiled body and the assembly of the machinery responsible for ribosome biosynthesis...
  3. ncbi The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
    Q Liu
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 90:1013-21. 1997
    ..These findings suggest a role for SMN and SIP1 in spliceosomal snRNP biogenesis and function and provide a likely molecular mechanism for the cause of SMA...
  4. ncbi Pre-mRNA splicing: awash in a sea of proteins
    Melissa S Jurica
    Howard Hughes Medical Institute, Department of Biochemistry, Brandeis University, 415 South Street, Waltham, MA 02454, USA
    Mol Cell 12:5-14. 2003
    ..Another recurring theme regards the dynamic nature of spliceosomal complexes, which may be even more intricate than previously thought...
  5. ncbi Essential role for the SMN complex in the specificity of snRNP assembly
    Livio Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Science 298:1775-9. 2002
    ..part of a large macromolecular complex (SMN complex) that functions in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)...
  6. pmc A novel nuclear structure containing the survival of motor neurons protein
    Q Liu
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    EMBO J 15:3555-65. 1996
    ..These structures are similar in number (2-6) and size (0.1-1.0 micron) to coiled bodies, and frequently are found near or associated with coiled bodies. We term these prominent nuclear structures gems, for Gemini of coiled bodies...
  7. pmc HMBA releases P-TEFb from HEXIM1 and 7SK snRNA via PI3K/Akt and activates HIV transcription
    Xavier Contreras
    Department of Medicine, Rosalind Russell Medical Research Center, University of California San Francisco, San Francisco, California, USA
    PLoS Pathog 3:1459-69. 2007
    ..Thus, our studies reveal how HIV transcription is induced by HMBA and suggest how modifications in the equilibrium between active and inactive P-TEFb could contribute to cell differentiation...
  8. pmc A Sm-like protein complex that participates in mRNA degradation
    E Bouveret
    EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    EMBO J 19:1661-71. 2000
    ..These results indicate the involvement of a new conserved Sm-like protein complex and a new factor, Pat1p, in mRNA degradation and suggest a physical connection between decapping and exonuclease trimming...
  9. ncbi The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    U Fischer
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 90:1023-9. 1997
    ..Thus, the SMN-SIP1 complex is directly involved in the biogenesis of spliceosomal snRNPs. Defects in spliceosomal snRNP biogenesis may, therefore, be the cause of SMA...
  10. pmc Characterization of Sm-like proteins in yeast and their association with U6 snRNA
    A E Mayes
    Institute of Cell and Molecular Biology, University of Edinburgh, King s Buildings, Mayfield Road, Edinburgh EH9 3JR, UK
    EMBO J 18:4321-31. 1999
    ..We discuss the possible existence and functions of alternative Lsm complexes, including the likelihood that they are involved in processes other than pre-mRNA splicing...
  11. pmc PP2B and PP1alpha cooperatively disrupt 7SK snRNP to release P-TEFb for transcription in response to Ca2+ signaling
    Ruichuan Chen
    Key Laboratory of the Ministry of Education for Cell Biology and Tumor Cell Engineering, School of Life Sciences, Xiamen University, Xiamen 361005, Fujian, China
    Genes Dev 22:1356-68. 2008
    ..Thus, through cooperatively dephosphorylating Cdk9 in response to Ca2+ signaling, PP2B and PP1alpha alter the P-TEFb functional equilibrium through releasing P-TEFb from 7SK snRNP for transcription...
  12. ncbi A comprehensive interaction map of the human survival of motor neuron (SMN) complex
    Simon Otter
    Theodor Boveri Institute at the Biocenter, University of Wuerzburg, Am Hubland, D 97074 Wuerzburg, Germany
    J Biol Chem 282:5825-33. 2007
    ..Collectively, the data presented here provide a basis for the detailed mechanistic and structural analysis of the assembly machinery of U snRNPs...
  13. pmc Sm and Sm-like proteins assemble in two related complexes of deep evolutionary origin
    J Salgado-Garrido
    EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    EMBO J 18:3451-62. 1999
    ..We also identified archaeal proteins related to Sm and Sm-like proteins. Our results demonstrate that Sm and Sm-like proteins assemble in at least two functionally conserved complexes of deep evolutionary origin...
  14. pmc Lsm proteins are required for normal processing of pre-tRNAs and their efficient association with La-homologous protein Lhp1p
    Joanna Kufel
    Wellcome Trust Centre for Cell Biology, The University of Edinburgh, Edinburgh EH9 3JR, Scotland, UK
    Mol Cell Biol 22:5248-56. 2002
    ..These data are consistent with roles for an Lsm complex as a chaperone that facilitates the efficient association of pre-tRNA processing factors with their substrates...
  15. pmc Archaeal ribosomal protein L7 is a functional homolog of the eukaryotic 15.5kD/Snu13p snoRNP core protein
    Jeffrey F Kuhn
    Department of Molecular and Structural Biochemistry, North Carolina State University, Box 7622, Raleigh, NC 27695 7622, USA
    Nucleic Acids Res 30:931-41. 2002
    ..L7 functioning as both an sRNP core protein and a ribosomal protein could potentially regulate and coordinate sRNP assembly with ribosome biogenesis...
  16. ncbi Analysis of the large inactive P-TEFb complex indicates that it contains one 7SK molecule, a dimer of HEXIM1 or HEXIM2, and two P-TEFb molecules containing Cdk9 phosphorylated at threonine 186
    Qintong Li
    Department of Biochemistry and Molecular Biology Program, University of Iowa, Iowa City, Iowa 52242, USA
    J Biol Chem 280:28819-26. 2005
    ..HEXIM complex. A model illustrates what is currently known about how HEXIM proteins, 7SK, and P-TEFb assemble to maintain an activated kinase in a readily available, but inactive form...
  17. ncbi Biogenesis of small nuclear RNPs
    Tamas Kiss
    Laboratoire de Biologie Moleculaire Eucaryote du CNRS, UMR5099, Universite Paul Sabatier, IFR109, 118 route de Narbonne, 31062 Toulouse Cedex 4, France
    J Cell Sci 117:5949-51. 2004
  18. ncbi A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    L Pellizzoni
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia 19104 6148, USA
    Cell 95:615-24. 1998
    ..These findings demonstrate that SMN plays a crucial role in the generation of the pre-mRNA splicing machinery and thus in mRNA biogenesis, and they link the function of SMN in this pathway to SMA...
  19. ncbi The archaeal sRNA binding protein L7Ae has a 3D structure very similar to that of its eukaryal counterpart while having a broader RNA-binding specificity
    C Charron
    Laboratoire de Cristallographie et Modélisation des Matériaux Minéraux et Biologiques, UMR CNRS 7036, Groupe Biocristallographie, Universite Henri Poincare, Nancy I, BP 239, 54506 Vandoeuvre les Nancy, France
    J Mol Biol 342:757-73. 2004
    ..The Glu43-Lys46 ion pair of protein L7Ae belongs to a complex network of ion pairs that may participate to protein thermostability...
  20. pmc The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome
    Cindy L Will
    Department of Cellular Biochemistry, Max Planck Institute of Biophysical Chemistry, D 37077 Gottingen, Germany
    RNA 10:929-41. 2004
    ..The presence of unique U11/U12 snRNP proteins in the U12-type spliceosome provides insight into potential evolutionary relationships between the major and minor spliceosome...
  21. ncbi Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs
    Graeme K Carnegie
    Medical Research Council Protein Phosphorylation Unit, Division of Cell Signalling, University of Dundee, Dundee DD1 5EH, Scotland, UK
    J Cell Sci 116:1905-13. 2003
    ..The SMN complex has been implicated in the assembly and maturation of small nuclear ribonucleoproteins (snRNPs)...
  22. ncbi The Gemin5 protein of the SMN complex identifies snRNAs
    Daniel J Battle
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Mol Cell 23:273-9. 2006
    ..Gemin5 therefore functions as the factor that allows the SMN complex to distinguish snRNAs from other cellular RNAs for snRNP biogenesis...
  23. ncbi Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains
    Chi Kong Lau
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, USA
    Nat Struct Mol Biol 16:486-91. 2009
    ..The WD repeat domain is thus a previously undescribed RNA binding domain, and we suggest that the presence of WD repeats should be considered as predictive of potential function in RNA binding...
  24. pmc Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
    B Charroux
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Cell Biol 147:1181-94. 1999
    ..In the cytoplasm, SMN and SIP1 interact with the Sm core proteins of spliceosomal small nuclear ribonucleoproteins (snRNPs), and they play a critical role in snRNP assembly...
  25. ncbi Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs
    A Gregory Matera
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
    Nat Rev Mol Cell Biol 8:209-20. 2007
    ..The small nuclear and small nucleolar RNPs are two well studied classes of ncRNPs with elaborate assembly and trafficking pathways that provide paradigms for understanding the biogenesis of other ncRNPs...
  26. pmc Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP
    Nicholas J Watkins
    Max Planck Institut fur biophysikalische Chemie, Abteilung Zelluläre Biochemie, D 37070, Gottingen, Germany
    Mol Cell Biol 22:8342-52. 2002
    ..5K, to the snoRNA. Indeed, the sequence of stem II was essential for nucleolar localization of U14 snoRNA microinjected into HeLa cells. Thus, the conserved sequence of stem II determines the specific assembly of the box C/D snoRNP...
  27. pmc Anti-dsDNA, anti-Sm antibodies, and the lupus anticoagulant: significant factors associated with lupus nephritis
    P Alba
    Lupus Research Unit, The Rayne Institute, UK
    Ann Rheum Dis 62:556-60. 2003
    ..Lupus nephritis (LN) is a common manifestation in patients with systemic lupus erythematosus (SLE). Autoantibodies and ethnicity have been associated with LN, but the results are controversial...
  28. pmc The 65 and 110 kDa SR-related proteins of the U4/U6.U5 tri-snRNP are essential for the assembly of mature spliceosomes
    O V Makarova
    Max Planck Institute for Biophysical Chemistry, Department of Cellular Biochemistry, Am Fassberg 11, D 37077 Gottingen, Germany
    EMBO J 20:2553-63. 2001
    ..Moreover, since both proteins contain an N-terminal RS domain, they could mediate the association of the tri-snRNP with pre-spliceosomes by interaction with members of the SR protein family...
  29. ncbi Yeast Sm-like proteins function in mRNA decapping and decay
    S Tharun
    Department of Molecular and Cellular Biology and Howard Hughes Medical Institute, University of Arizona, Tucson 85721, USA
    Nature 404:515-8. 2000
    ..In addition, the Lsm complex that functions in mRNA decay appears to be distinct from the U6-associated Lsm complex, indicating that Lsm proteins form specific complexes that affect different aspects of mRNA metabolism...
  30. pmc SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
    Michael P Walker
    Department of Genetics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106 4955, USA
    Hum Mol Genet 17:3399-410. 2008
    ..These results support the view that the SMN complex performs a muscle-specific function at the Z-discs...
  31. ncbi Interactions of Arabidopsis RS domain containing cyclophilins with SR proteins and U1 and U11 small nuclear ribonucleoprotein-specific proteins suggest their involvement in pre-mRNA Splicing
    Zdravko J Lorkovic
    Max F Perutz Laboratories, University Departments at the Vienna Biocenter, Department of Biochemistry, Medical University of Vienna, Dr Bohrgasse 9 3, A 1030 Vienna, Austria
    J Biol Chem 279:33890-8. 2004
    ..Alternatively, binding of CypRS64 to proteins important for 5' splice site recognition suggests its involvement in the dynamics of spliceosome assembly...
  32. pmc Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing
    Ramesh S Pillai
    Institute of Cell Biology, University of Bern, 3012 Bern, Switzerland
    Genes Dev 17:2321-33. 2003
    ..Thus, the U7-specific Lsm11 protein not only specifies the assembly of the U7 Sm core but also fulfills an important role in U7 snRNP-mediated histone mRNA processing...
  33. ncbi Pseudouridine synthases
    Tomoko Hamma
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109, USA
    Chem Biol 13:1125-35. 2006
    ....
  34. ncbi A novel WD repeat protein component of the methylosome binds Sm proteins
    Westley J Friesen
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Biol Chem 277:8243-7. 2002
    ....
  35. pmc Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
    B Charroux
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    J Cell Biol 148:1177-86. 2000
    ..Interestingly, Gemin4 is also detected in the nucleoli, suggesting that the SMN complex may also function in preribosomal RNA processing or ribosome assembly...
  36. ncbi Gemin8 is required for the architecture and function of the survival motor neuron complex
    Claudia Carissimi
    Dulbecco Telethon Institute, Institute of Cell Biology, Consiglio Nazionale delle Ricerche, Monterotondo Scalo, Rome 00016, Italy
    J Biol Chem 281:37009-16. 2006
    The biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs) in higher eukaryotes requires the functions of several cellular proteins and includes nuclear as well as cytoplasmic phases...
  37. pmc Xenopus LSm proteins bind U8 snoRNA via an internal evolutionarily conserved octamer sequence
    Nenad Tomasevic
    Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1766, USA
    Mol Cell Biol 22:4101-12. 2002
    ..This purified complex can bind U6 snRNA in vitro but does not bind U3 or U14 snoRNA in vitro, demonstrating that the LSm complex specifically recognizes U8 RNA...
  38. pmc The abundance of the spliceosomal snRNPs is not limiting the splicing of U12-type introns
    Heli K J Pessa
    Institute of Biotechnology, Program on Developmental Biology, PL56 Viikinkaari 9, 00014 University of Helsinki, Finland
    RNA 12:1883-92. 2006
    ..Thus our results suggest that the cellular abundance of the snRNPs does not limit U12-type intron splicing under normal conditions...
  39. ncbi The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
    Francesca Gabanella
    Dulbecco Telethon Institute, Institute of Cell Biology CNR, Rome, Italy
    Hum Mol Genet 14:3629-42. 2005
    ..SMN is part of a macromolecular complex essential for the assembly of the small nuclear ribonucleoproteins (snRNPs) that carry out pre-mRNA splicing...
  40. pmc Sm and Sm-like proteins belong to a large family: identification of proteins of the U6 as well as the U1, U2, U4 and U5 snRNPs
    B Seraphin
    EMBL, Heidelberg, Germany
    EMBO J 14:2089-98. 1995
    ..These findings have implications for the structure of the Sm protein complex, spliceosomal snRNP evolution, snRNA transport and modification as well as the involvement of Sm proteins in systemic lupus erythematosus...
  41. pmc A comprehensive biochemical and genetic analysis of the yeast U1 snRNP reveals five novel proteins
    A Gottschalk
    Institut fur Molekularbiologie und Tumorforschung, Philipps Universitat Marburg, Germany
    RNA 4:374-93. 1998
    ..Finally, we show that Nam8p/Mud15p contributes to the stability of U1 snRNP...
  42. pmc A divergent Sm fold in EDC3 proteins mediates DCP1 binding and P-body targeting
    Felix Tritschler
    Max Planck Institute for Developmental Biology, Spemannstrasse 35, D 72076 Tubingen, Germany
    Mol Cell Biol 27:8600-11. 2007
    ..The conservation of surface and of critical structural residues indicates that LSm domains in EDC3 proteins adopt a similar fold that has separable novel functions that are absent in canonical (L)Sm proteins...
  43. ncbi The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
    J Bressler
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 28:232-40. 2001
    ..In contrast, a larger, overlapping 4.8-kb deletion caused a partial or mosaic imprinting defect and perinatal lethality when paternally inherited...
  44. 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
    ..As we have not obtained any evidence for other genes in this region, which, from the mouse data appears to be critical for the neonatal Prader-Willi syndrome phenotype, a lack of these snoRNAs may be causally involved in this disease...
  45. ncbi Anti-Sm and anti-RNP antibodies
    P Migliorini
    Clinical Immunology Unit, Department of Internal Medicine, University of Pisa, Italy
    Autoimmunity 38:47-54. 2005
    ....
  46. pmc The Drosophila melanogaster Cajal body
    Ji Long Liu
    Department of Embryology, Carnegie Institution of Washington, Baltimore, MD 21218, USA
    J Cell Biol 172:875-84. 2006
    ..melanogaster. The identification of these nuclear bodies now permits a broad range of questions to be asked about CB structure and function in a genetically tractable organism...
  47. ncbi A role for Cajal bodies in the final steps of U2 snRNP biogenesis
    Dobrila Nesic
    Department of Cell Biology, Faculty of Sciences, University of Geneva, 30, Quai Ernest Ansermet, CH 1211 Geneva 4, Switzerland
    J Cell Sci 117:4423-33. 2004
    The biogenesis of Sm-type small nuclear ribonucleoproteins (snRNPs) involves the export of newly transcribed small nuclear RNAs (snRNAs) to the cytoplasm, assembly with seven common proteins and modification at the 5' and 3' termini...
  48. pmc Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn
    Miguel Landers
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030, USA
    Nucleic Acids Res 32:3480-92. 2004
    ..We also show that the murine U exons have arisen by genomic duplication of segments that include elements of the IC, suggesting that the brain specific silencing of Ube3a is due to multiple alternatively spliced IC-Ube3a-ATS transcripts...
  49. ncbi Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    J S Sutcliffe
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 8:52-8. 1994
    ..The smallest PWS deletion is familial and asymptomatic with maternal transmission. Our data imply the presence of a paternal imprinting control region near exon alpha...
  50. pmc Functional interaction of a novel 15.5kD [U4/U6.U5] tri-snRNP protein with the 5' stem-loop of U4 snRNA
    S Nottrott
    Institut fur Molekularbiologie und Tumorforschung, Philipps Universitat Marburg, Emil Mannkopff Strasse 2, D 35037 Marburg, Germany
    EMBO J 18:6119-33. 1999
    ..Our finding that the 15.5kD protein also efficiently binds to the 5' stem-loop of U4atac snRNA indicates that it may be shared by the [U4atac/U6atac.U5] tri-snRNP of the minor U12-type spliceosome...
  51. pmc miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs
    Zissimos Mourelatos
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Genes Dev 16:720-8. 2002
    ..The genomic sequences predict that miRNAs are likely to be derived from larger precursors that have the capacity to form stem-loop structures...
  52. pmc p110, a novel human U6 snRNP protein and U4/U6 snRNP recycling factor
    Mathias Bell
    Institut fur Biochemie, Justus Liebig Universitat Giessen, Heinrich Buff Ring 58, D 35392 Giessen, Germany
    EMBO J 21:2724-35. 2002
    ..In summary, p110 represents the human ortholog of Prp24, and associates only transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle...
  53. ncbi Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
    Claudia Carissimi
    Dulbecco Telethon Institute, Institute of Cell Biology, Consiglio Nazionale delle Ricerche, 00016 Monterotondo Scalo, Rome, Italy
    J Biol Chem 281:8126-34. 2006
    ..a subset of SMN complexes containing unrip and Sm proteins mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)...
  54. ncbi Gemin2 plays an important role in stabilizing the survival of motor neuron complex
    Chihiro Ogawa
    Genome Exploration Research Group, RIKEN Genomic Sciences Center, RIKEN Yokohama Institute, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    J Biol Chem 282:11122-34. 2007
    ....
  55. ncbi Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme
    Célia Jeronimo
    Laboratory of Gene Transcription and Proteomics Discovery Platform, Institut de Recherches Cliniques de Montreal, Montreal, QC, Canada
    Mol Cell 27:262-74. 2007
    ..Our results define a high-density protein interaction network for the mammalian transcription machinery and uncover multiple regulatory factors that target the transcription machinery...
  56. ncbi Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization
    Matthias Grimmler
    Department of Biochemistry, Theodor Boveri Institute, University of Wurzburg, Germany
    Hum Mol Genet 14:3099-111. 2005
    ..We speculate that unrip plays a crucial role in the intracellular distribution of the SMN complex...
  57. ncbi Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
    Tessa L Carrel
    Center for Molecular Neurobiology, The Ohio State University, Columbus, Ohio 43210, USA
    J Neurosci 26:11014-22. 2006
    ..Thus, we have dissociated the snRNP function of SMN from its function in motor axons. These data indicate that SMN has a novel function in motor axons that is relevant to SMA and is independent of snRNP biosynthesis...
  58. pmc The U11-48K protein contacts the 5' splice site of U12-type introns and the U11-59K protein
    Janne J Turunen
    Institute of Biotechnology, PL 56 Viikinkaari 9, 00014 University of Helsinki, Helsinki, Finland
    Mol Cell Biol 28:3548-60. 2008
    ..These studies provide important insights into the protein-mediated recognition of the U12-type 5'ss, as well as functionally important interactions within the U11/U12 di-snRNP...
  59. pmc The assembly of a spliceosomal small nuclear ribonucleoprotein particle
    Snehal Bhikhu Patel
    Biochemistry and College of Medicine and Cell and Developmental Biology, University of Illinois at Urbana Champaign, Urbana, IL 61801, USA
    Nucleic Acids Res 36:6482-93. 2008
    ..The aim of this review is, then, to briefly outline the structure of snRNPs and to synthesize new and exciting developments in the snRNP biogenesis pathways...
  60. ncbi Quantitative proteomics identifies Gemin5, a scaffolding protein involved in ribonucleoprotein assembly, as a novel partner for eukaryotic initiation factor 4E
    Ivo Fierro-Monti
    Department of Biochemistry and Molecular Biology, University of Southern Denmark
    J Proteome Res 5:1367-78. 2006
    ..Our results demonstrate that our quantitative proteomic strategy can be applied to the identification and quantitation of protein complex components in human cells grown under different conditions...
  61. pmc Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies
    Ira Lemm
    Department of Cellular Biochemistry, Max Planck Institute for Biophysical Chemistry, D 37077 Gottingen, Germany
    Mol Biol Cell 17:3221-31. 2006
    Cajal bodies (CBs) have been implicated in the nuclear phase of the biogenesis of spliceosomal U small nuclear ribonucleoproteins (U snRNPs)...
  62. pmc Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis
    Melissa S Jurica
    Howard Hughes Medical Institute, Department of Biochemistry, Brandeis University, Waltham, Massachusetts 02454, USA
    RNA 8:426-39. 2002
    ..These images represent an important first step toward attaining a comprehensive three-dimensional understanding of pre-mRNA splicing...
  63. pmc Interleukin 6 dependence of anti-DNA antibody production: evidence for two pathways of autoantibody formation in pristane-induced lupus
    H B Richards
    Department of Medicine, Thurston Arthritis Research Center, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill 27599 7280, USA
    J Exp Med 188:985-90. 1998
    ..This may reflect the differential IL-6 dependence of the two responses...
  64. pmc All small nuclear RNAs (snRNAs) of the [U4/U6.U5] Tri-snRNP localize to nucleoli; Identification of the nucleolar localization element of U6 snRNA
    Susan A Gerbi
    Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912, USA
    Mol Biol Cell 13:3123-37. 2002
    ..Conversion of the 3' hydroxyl of U6 snRNA to a 3' phosphate prevents association with the La protein but does not affect U6 localization to nucleoli or Cajal bodies...
  65. pmc Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
    Chen Wang
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, NY 10461, USA
    EMBO J 23:1857-67. 2004
    ..Nonetheless, functional H/ACA snoRNPs assembled in cytosolic extracts are stable and do not exchange their RNA components, suggesting that new particle formation requires de novo synthesis...
  66. ncbi Cajal body proteins SMN and Coilin show differential dynamic behaviour in vivo
    Judith E Sleeman
    University of Dundee, MSI WTB complex, School of Life Sciences, Dow Street, Dundee DD1 5EH, UK
    J Cell Sci 116:2039-50. 2003
    ..This in vivo study indicates that SMN and coilin interact differentially with Cajal bodies and reveals parallels in the pathway for reassembly of nucleoli and Cajal bodies following mitosis...
  67. pmc U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies
    Ji Long Liu
    Department of Embryology, Carnegie Institution of Washington, 3520 San Martin Drive, Baltimore, MD 21218, USA
    Proc Natl Acad Sci U S A 104:11655-9. 2007
    Uridine-rich small nuclear ribonucleoproteins (U snRNPs) are involved in key steps of pre-mRNA processing in the nucleus of eukaryotic cells...
  68. pmc An imprinted, mammalian bicistronic transcript encodes two independent proteins
    T A Gray
    Department of Genetics, Case Western Reserve University School of Medicine and Center for Human Genetics, University Hospitals of Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 96:5616-21. 1999
    ..These findings identify SNURF as a protein that is produced along with SmN from a bicistronic transcript; polycistronic mRNAs therefore are encoded in mammalian genomes where they may form functional operons...
  69. ncbi Unrip is a component of SMN complexes active in snRNP assembly
    Claudia Carissimi
    Dulbecco Telethon Institute, Institute of Cell Biology CNR, Monterotondo Scalo, Rome, Italy
    FEBS Lett 579:2348-54. 2005
    ..interacts with Sm proteins and snRNAs to carry out the assembly of these components into spliceosomal small nuclear ribonucleoproteins (snRNPs)...
  70. ncbi Three-dimensional structure of the native spliceosome by cryo-electron microscopy
    Maia Azubel
    Department of Genetics, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    Mol Cell 15:833-9. 2004
    ..The features this structure reveals provide new insight into the global architecture of the native splicing machine...
  71. ncbi Cajal bodies: a long history of discovery
    Mario Cioce
    IRBM Merck Research Laboratories Rome, Rome, Italy
    Annu Rev Cell Dev Biol 21:105-31. 2005
    ..We speculate on the relationship between CB function and molecular disease...
  72. pmc Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
    Amy M Avila
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, MA 20892, USA
    J Clin Invest 117:659-71. 2007
    ..These results indicate that the hydroxamic acid class of HDAC inhibitors activates SMN2 gene expression in vivo and has an ameliorating effect on the SMA disease phenotype when administered after disease onset...
  73. ncbi De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
    B Bielinska
    Department of Genetics, The Children s Memorial Health Institute, Warsaw, Poland
    Nat Genet 25:74-8. 2000
    ..Our studies demonstrate that the PWS IC element is not only required for the establishment of the paternal imprint, but also for its postzygotic maintenance...
  74. pmc SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
    Zhenxi Zhang
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6148, USA
    Cell 133:585-600. 2008
    ..These findings reveal a key role for the SMN complex in RNA metabolism and in splicing regulation and indicate that SMA is a general splicing disease that is not restricted to motor neurons...
  75. ncbi Development of autoantibodies before the clinical onset of systemic lupus erythematosus
    Melissa R Arbuckle
    Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
    N Engl J Med 349:1526-33. 2003
    ..We investigated the onset and progression of autoantibody development before the clinical diagnosis...
  76. ncbi Crystal structure of the spliceosomal 15.5kD protein bound to a U4 snRNA fragment
    I Vidovic
    Institut fur Molekularbiologie und Tumorforschung, Philipps Universitat Marburg, Emil Mannkopff Strasse 2, 35037 Marburg, Germany
    Mol Cell 6:1331-42. 2000
    ..5kD protein with box C/D snoRNAs. It additionally suggests a general recognition principle in a novel family of RNA binding proteins...
  77. pmc Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
    P Ungaro
    Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
    J Med Genet 38:26-34. 2001
    ....
  78. pmc Identification of a SmD3 epitope with a single symmetrical dimethylation of an arginine residue as a specific target of a subpopulation of anti-Sm antibodies
    Michael Mahler
    Dr Fooke Laboratorien GmbH, Neuss, Germany
    Arthritis Res Ther 7:R19-29. 2005
    ..Thus, anti-SMP detection using ELISA represents a new serological marker with which to diagnose and discriminate between systemic autoimmune disorders...
  79. pmc Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
    Francesca Gabanella
    Dulbecco Telethon Institute, Institute of Cell Biology, Monterotondo Scalo, Rome, Italy
    PLoS ONE 2:e921. 2007
    ..with Gemins2-8 and unrip proteins form a macromolecular complex that functions in the assembly of small nuclear ribonucleoproteins (snRNPs) of both the major and the minor splicing pathways...
  80. pmc Additional low-abundance human small nuclear ribonucleoproteins: U11, U12, etc
    K A Montzka
    Howard Hughes Medical Institute, Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven 06510
    Proc Natl Acad Sci U S A 85:8885-9. 1988
    ..Therefore, these low-abundance (10(3)-10(4) per cell) RNAs belong to the Sm class of small nuclear ribonucleoproteins (snRNPs), whose best-known members are the four highly abundant (approximately 10(6) per cell) ..
  81. ncbi Inhibition of protein dephosphorylation results in the accumulation of splicing snRNPs and coiled bodies within the nucleolus
    C E Lyon
    Department of Biochemistry, University of Dundee, Scotland, United Kingdom
    Exp Cell Res 230:84-93. 1997
    ..The data are consistent with a trafficking mechanism whereby splicing snRNPs cycle through the nucleolus...
  82. ncbi The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting
    A Y Hershko
    Department of Cellular Biochemistry and Human Genetics, The Hebrew University Hadassah Medical School, Jerusalem, Israel 91120
    Genes Cells 6:967-75. 2001
    ....
  83. ncbi Characterization of the human Snrpn minimal promoter and cis elements within it
    Yael Green Finberg
    Department of Cellular Biochemistry and Human Genetics, The Hebrew University Hadassah Medical School, 91120, Jerusalem, Israel
    Gene 304:201-6. 2003
    ..This sequence specifically binds a protein factor which presumably exerts a repressory effect on the promoter. Methylation of this sequence prevents the binding of this protein...
  84. pmc In vivo analysis of NHPX reveals a novel nucleolar localization pathway involving a transient accumulation in splicing speckles
    Anthony K L Leung
    Wellcome Trust Biocentre, MSI WTB complex, University of Dundee, Dundee DD1 5EH, Scotland, UK
    J Cell Biol 157:615-29. 2002
    ..The data show a specific temporal pathway involving the sequential and directed accumulation of NHPX in distinct subnuclear compartments, and define a novel mechanism for nucleolar localization...
  85. pmc Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product
    K E Tucker
    Department of Genetics, and Program in Cell Biology, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    J Cell Biol 154:293-307. 2001
    Cajal bodies (CBs) are nuclear suborganelles involved in the biogenesis of small nuclear ribonucleoproteins (snRNPs)...
  86. pmc Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
    C C Glenn
    R C Philips Research and Education Unit, Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610, USA
    Am J Hum Genet 58:335-46. 1996
    ..These findings are consistent with a key role for DNA methylation in the imprinted inheritance and subsequent gene expression of the human SNRPN gene...
  87. pmc Recycling of the U12-type spliceosome requires p110, a component of the U6atac snRNP
    Andrey Damianov
    Institut fur Biochemie, Justus Liebig Universitat Giessen, D 35392 Giessen, Germany
    Mol Cell Biol 24:1700-8. 2004
    ..With a U12-dependent in vitro splicing system, we demonstrate that p110 is required for recycling of the U4atac/U6atac snRNP...
  88. pmc The identification and characterization of a novel splicing protein, Isy1p, of Saccharomyces cerevisiae
    I Dix
    Institute of Cell and Molecular Biology, University of Edinburgh, United Kingdom
    RNA 5:360-8. 1999
    ..Using a sensitive in vivo splicing assay, however, we observed lower splicing efficiency in the isy1 null mutant compared to wild-type, indicating that Isy1 p is important in the optimization of splicing...
  89. ncbi HRad17 colocalizes with NHP2L1 in the nucleolus and redistributes after UV irradiation
    M S Chang
    Department of Cancer Biology, Dana Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 274:36544-9. 1999
    ..Interestingly, the localization of HRad17 in the nucleolus was altered in response to UV irradiation. These results provide some insight into the DNA damage and replication checkpoint mechanisms of HRad17...
  90. pmc Predicted structure and phyletic distribution of the RNA-binding protein Hfq
    Xueguang Sun
    School of Biology, Georgia Institute of Technology, Atlanta, GA 30332, USA
    Nucleic Acids Res 30:3662-71. 2002
    ..Residues at three positions in Hfq form signatures for the beta/gamma proteobacteria, alpha proteobacteria and low GC Gram-positive bacteria groups...
  91. ncbi Specific alterations of U1-C protein or U1 small nuclear RNA can eliminate the requirement of Prp28p, an essential DEAD box splicing factor
    J Y Chen
    Department of Molecular Genetics, Ohio State University, Columbus, OH 43210, USA
    Mol Cell 7:227-32. 2001
    ..Thus, in addition to unwinding RNA, the DExD/H box proteins may affect RNA-RNA rearrangements by antagonizing specific RNA-stabilizing proteins...
  92. ncbi RNA unwinding in U4/U6 snRNPs requires ATP hydrolysis and the DEIH-box splicing factor Brr2
    P L Raghunathan
    Department of Biochemistry and Biophysics, University of California, San Francisco 94143 0448, USA
    Curr Biol 8:847-55. 1998
    ..Because these helices must be disrupted to activate the spliceosome for catalysis, this rearrangement is believed to be tightly regulated in vivo...
  93. ncbi Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln
    G Meister
    Max Planck Institute of Biochemistry, Am Klopferspitz 18a, D 82152, Martinsried, Germany
    Curr Biol 11:1990-4. 2001
    ..Our data suggest that the pICln complex regulates an early step in the assembly of U snRNPs, possibly the transfer of Sm proteins to the SMN-complex...
  94. pmc An Hfq-like protein in archaea: crystal structure and functional characterization of the Sm protein from Methanococcus jannaschii
    Jesper S Nielsen
    Department of Biochemistry and Molecular Biology, University of Southern Denmark, Campusvej 55, DK 5230 Odense M, Denmark
    RNA 13:2213-23. 2007
    ..Functional analysis reveals that Escherichia coli and M. jannaschii Hfqs display very similar biochemical and biological properties. It thus appears that the archaeal and bacterial Hfq proteins are largely functionally interchangeable...
  95. ncbi Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy
    D Buhler
    Max Planck Institut fur Biochemie, Am Klopferspitz 18a, D 82152 Martinsried, Germany
    Hum Mol Genet 8:2351-7. 1999
    ..Thus, our data show that SMN is an essential U snRNP assembly factor and establish a direct correlation between defects in the biogenesis of U snRNPs and SMA...
  96. pmc Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs
    Matthias Grimmler
    Institute of Biochemistry, Biocenter at the University of Würzburg, Am Hubland, 97074 Wurzburg, Germany
    EMBO Rep 6:70-6. 2005
    The assembly of spliceosomal U-rich small nuclear ribonucleoproteins (U snRNPs) is an ATP-dependent process mediated by the coordinated action of the SMN and the PRMT5 complex...
  97. pmc The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy
    Lili Wan
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Mol Cell Biol 25:5543-51. 2005
    ..Thus, SMN determines the capacity for snRNP biogenesis, and our findings provide evidence for a measurable deficiency in a biochemical activity in cells from patients with spinal muscular atrophy...
  98. ncbi HEXIM2, a HEXIM1-related protein, regulates positive transcription elongation factor b through association with 7SK
    Sarah A Byers
    Molecular Biology Program and Department of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA
    J Biol Chem 280:16360-7. 2005
    ..Our results provide strong evidence that HEXIM2 is a regulator of P-TEFb function. Furthermore, our results support the idea that the utilization of HEXIM1 or HEXIM2 to bind and inhibit P-TEFb can be differentially regulated in vivo...
  99. ncbi RNA polymerase II targets pre-mRNA splicing factors to transcription sites in vivo
    T Misteli
    National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell 3:697-705. 1999
    ..Our results demonstrate a critical role for the CTD of RNA pol II LS in the intranuclear targeting of splicing factors to transcription sites in vivo...
  100. pmc A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site
    C L Will
    Department of Cellular Biochemistry, Max Planck Institute of Biophysical Chemistry, D 37077 Gottingen, EMBL, Protein and Peptide Group, D 69117 Heidelberg, Germany
    EMBO J 20:4536-46. 2001
    ..Immuno precipitations indicated that p14 is present in U12-type spliceosomes, consistent with the idea that branch point selection is similar in the major and minor spliceosomes...
  101. ncbi Molecular mechanisms of spinal muscular atrophy
    Charlotte J Sumner
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
    J Child Neurol 22:979-89. 2007
    ..Histone deacetylase inhibitors will be discussed as an example...

Research Grants62

  1. microRNA biogenesis and function in spinal muscular atrophy
    Zissimos Mourelatos; Fiscal Year: 2007
    ..protein associates with six additional proteins into an SMN complex and functions in the assembly of small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs...
  2. High-affinity RNA targets of Survival Motor Neuron Protein
    Ravindra N Singh; Fiscal Year: 2013
    ..Our proposal has potential to identify novel SMN functions with significance to a better understanding of molecular mechanism of SMA pathogenesis. ) ..
  3. SPLICING OF MRNA PRECURSORS
    Michael R Green; Fiscal Year: 2013
    ....
  4. The survival of motor neuron protein in axonal mRNA localization
    PAUL GREGORY DONLIN-ASP; Fiscal Year: 2013
    ..Through identification of novel mislocalized mRNA transcripts and a role for SMN in mRNA localization, this research will identify novel targets for the development of SMA therapies. ..
  5. SMN Control of snRNP Biogenesis: Role in RNA Splicing and Motor Neuron Survival
    Livio Pellizzoni; Fiscal Year: 2013
    ..SMN has a well-established function in the assembly of small nuclear ribonucleoproteins (snRNPs), which are the essential components of the splicing machinery...
  6. Immune Response to Small Nuclear Ribonucleoprotein Autoantigens
    Eric L Greidinger; Fiscal Year: 2011
    ..Our research goal is to develop new and effective treatments of these disorders. ..
  7. ROLE OF ACA11, AN ORPHAN SMALL NUCLEOLAR RNA IN RESISTANCE TO CANCER CHEMOTHERAPY
    Jason Weber; Fiscal Year: 2013
    ..regulates ROS levels through modulating splicing of snoRNAs from ribosomal protein transcripts Aim 3: To test the hypothesis that overexpression of ACA11 leads to an inhibition of nucleolar stress-induced, p53-regulated ROS production ..
  8. The role of the SF3B1 splicing factor in chronic lymphocytic leukemia
    CATHERINE JU YING WU; Fiscal Year: 2013
    ....
  9. Molecular Etiology of Spinal Muscular Atrophy
    A Gregory Matera; Fiscal Year: 2013
    ..The combined data will elucidate the molecular, cellular and developmental biological consequences of reduced SMN expression and lead to a better understanding of the etiology of Spinal Muscular Atrophy. ..
  10. NUCLEAR ACIDIC PROTEIN ANTIGENS IN RHEUMATIC DISEASES
    GORDON SHARP; Fiscal Year: 1990
    ..The product of autoimmune response, the immune complex, will be biochemically characterized and its distribution studied for specific autoantibody-antigen reactivities...
  11. Molecular and cellular characterization of SMN-mediated U7 snRNP assembly
    SARAH R TISDALE; Fiscal Year: 2013
    ..a variety of RNPs, to date its only well-characterized function is in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), critical components of the eukaryotic mRNA splicing machinery...
  12. ALTERNATIVE MRNA PROCESSING DURING SPERMATOGENESIS
    PETER CHALLONER; Fiscal Year: 1992
    ..Ultimately, these in vitro polyadenylation and splicing reactions will provide a means of determining which trans-acting factors and cis-acting elements are necessary for alternative pre-mRNA processing in spermatids...
  13. POLYADENYLATION OF MESSENGER RNA PRECURSORS REGULATION
    PHILLIP SHARP; Fiscal Year: 1990
    ..We will develop RNA substrates for these two polyadenylation sites and characterize the in vitro processing in both Hela and B cell extracts...
  14. Immune Recognition of Modified Antigen in Scleroderma
    Robert Hoffman; Fiscal Year: 2003
    b>Small nuclear ribonucleoproteins (snRNP) are prominent self antigens targeted in scleroderma and other autoimmune conditions...
  15. CHARACTERIZATION OF RHEUMATOID ANTIGENS IN CYANOBACTERIA
    SHIRLEY KOVACS; Fiscal Year: 1991
    ..Such information could elucidate the role that snRNPs play in basic cellular physiology...
  16. NUCLEAR PROTEINS AND AUTOIMMUNITY
    SALLIE HOCH; Fiscal Year: 1992
    ..Overall these studies are asking what features make antigens such as Sm and RNP targets in the autoimmune sequence of events, while relating these same polypeptides to the native cellular environment in which they function...
  17. FUNCTION OF SNRNP PARTICLES IN PRE-MRNA SPLICING
    Brian Rymond; Fiscal Year: 1993
    ..Genetic and biochemical experiments will be performed to characterize the RNA binding properties of the 70 kd protein and to determine the contribution of the U1 snRNA/70 kd protein complex to spliceosome formation and splicing...
  18. FUNCTION OF SNRNP PROTEINS IN SPLICING
    PAUL SILICIANO; Fiscal Year: 2000
    ....
  19. REGULATORY FUNCTIONS OF PROTEIN NUCLEIC ACID INTERACTION
    WOLFGANG JOKLIK; Fiscal Year: 1991
    ..study the mechanisms involved in the rapid and complete inhibition of the processing and assembly of small nuclear ribonucleoproteins in cells infected with vesicular stomatitis virus...
  20. SPLICEOSOME ASSEMBLY AND FUNCTION
    Alan Weiner; Fiscal Year: 2001
    ....
  21. PRE-MRNA SPLICING IN SCHIZOSACCHAROMYCES POMBE
    David Frendewey; Fiscal Year: 1992
    ..The yeast system offers a combined genetic and biochemical approach that will facilitate the achievement of the immediate objectives and long term goals of the proposed work...
  22. STRUCTURE AND AUTOIMMUNOGENIC POTENTIAL OF THE TH SNRNP
    Joseph Craft; Fiscal Year: 1992
    This project seeks to understand the mechanisms that led to the generation of autoimmune responses to small nuclear ribonucleoproteins (snRNPs)...
  23. PROTEIN/RNA INTERACTIONS IN SPLICE SITE SELECTION
    Rui Ming Xu; Fiscal Year: 2006
    ..abstract_text> ..
  24. MOLECULAR RECOGNITION OF RNA BY THE HUMAN U1A PROTEIN
    Kathleen Hall; Fiscal Year: 2007
    ..A comparison of SNF and U1A binding properties and structures will show how RBD function has been modulated. ..
  25. ASSEMBLY, LOCALIZATION AND FUNCTION OF THE U3 SNRNP
    SUSAN BASERGA; Fiscal Year: 2000
    ..Study the cellular biogenesis of the U3 snRNP, including proteins and RNA sequences necessary for nucleolar localization 5. Investigate the U3 snRNP components essential for pre-rRNA processing using an in vitro processing system. ..
  26. POST TRANSLATIONAL MODIFICATIONS AND AUTOIMMUNITY
    Mark Mamula; Fiscal Year: 2000
    ..in systemic lupus erythematosus (SLE), autoantibodies are directed at a number of determinants on small nuclear ribonucleoproteins (snRNPs) and on nucleosomes...
  27. EFFECTS OF HSV ON NUCLEAR STRUCTURE AND MRNA PROCESSING
    TERENCE MARTIN; Fiscal Year: 1990
    ..In addition to furthering knowledge of the metabolism of infected cells these studies may also indicate possible mechanisms for viral factors in cellular transformation and autoimmune disorders...
  28. AUTOANTIBODIES AS PROBES OF VIRUS-HOST INTERACTIONS
    JEFFREY SNEDEKER; Fiscal Year: 1991
    ..between leader RNAs of VSV and/or rabies and the LA protein block the assembly of U1 and U2 small nuclear ribonucleoproteins? 3) Can the inhibition of cell macromolecular synthesis by VSV be overcome by the overproduction of ..
  29. CONFERANCE ON REGULATION OF TRANSCRIPTION ELONG AND TERM
    Charles Fox; Fiscal Year: 1991
    ..Conversely, there are instances where the terminator itself appears to also function as an integral component of the initiation site. All of these areas are under active investigation and will make for an exciting meeting...
  30. Structural Analyses of Fission Yeast Splicing Complexes
    KATHLEEN GOULD; Fiscal Year: 2006
    ..abstract_text> ..
  31. ALTERNATIVE RNA PROCESSING IN THE NERVOUS SYSTEM
    Susan Amara; Fiscal Year: 1993
    ..Because small nuclear ribonucleoproteins (snRNPs) are known participants in pre-mRNA splicing events, cell specific variants of their ..
  32. Activation of Innate Immunity by Small Ribonucleoprotein
    Westley Reeves; Fiscal Year: 2007
    ..By triggering innate immunity, the highly structured, RNAs contained in these molecules could promote autoimmunity by promoting dendritic cell maturation and/or the activation of autoreactive B or T lymphocytes. ..
  33. Genetically Modified Rhesus Monkeys
    Shoukhrat Mitalipov; Fiscal Year: 2006
    ..Such animals should provide a resource for the study of human neurogenetic diseases and serve as pre-clinical models for new experimental treatments including gene and stem cell based therapies. ..
  34. APOPTOSIS-MODIFIED SELF ANTIGEN IN RHEUMATIC DISEASE
    Eric Greidinger; Fiscal Year: 2002
    ..In the future, this work may lead to the development of specific immunotherapy strategies for the treatment of Ul-70kDa-associated rheumatic disorders. ..
  35. IMMUNE MECHANISMS IN PRISTANE INDUCED LUPUS NEPHRITIS
    Westley Reeves; Fiscal Year: 2003
    ..Future studies will address the question of whether renal abnormalities similar to those induced by pristane are involved in the pathogenesis of human lupus nephritis. ..
  36. Role of arginine deficiency in pathogenesis of lupus
    Minoru Satoh; Fiscal Year: 2004
    ..Autoantibodies to small nuclear ribonucleoproteins (snRNPs: Sm and nRNP) are frequently produced in SLE, MRL mice, and pristane-treated normal mice...
  37. Genetics of Autontibody Diversification
    Umesh Deshmukh; Fiscal Year: 2008
    ..The proposal addresses a significant issue in autoimmunity and will serve well as a training vehicle to obtain the stated goals by the PI. ..
  38. Genetic Analysis of Human Holoprosencephaly
    Jeffrey Ming; Fiscal Year: 2009
    ..With these studies, we will further elucidate the genetic etiology of HPE and gain important insight into causes of congenital craniofacial and brain anomalies. ..
  39. Telomerase Transport and Targeting
    MICHAEL TERNS; Fiscal Year: 2008
    ..abstract_text> ..
  40. Spinal muscular atrophy: a novel role of SMN in axonal ribonucleoprotein complexe
    Wilfried Rossoll; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  41. Structure and Function of Copper Transporters
    Vinzenz Unger; Fiscal Year: 2009
    ..Using the substituted cysteine accessibility method and alanine scanning mutagenesis, we will test this hypothesis by determining how the different transmembrane helices contribute to such a copper uptake. ..
  42. Fine Mapping and Functional Analysis of RANKL Variants in Early RA Onset
    Betty Tsao; Fiscal Year: 2008
    ..The understanding of molecular mechanisms for the pathogenesis of RA may lead to the development of novel targeted medications. [unreadable] [unreadable] [unreadable]..
  43. Trans-splicing in C. elegans
    Thomas Blumenthal; Fiscal Year: 2007
    ..We will determine what functions these proteins have in 3' end formation. These studies should provide important new insight into how 3' end cleavage can occur without accompanying transcription termination. ..
  44. X-RAY STUDIES ON BACTERIAL MDR REGULATORS
    Richard Brennan; Fiscal Year: 2008
    ..These data will be used in future structure-based drug design of novel drugs against pathogenic bacteria, including S. aureus, N. gonorrhoeae and potentially B. anthracis. ..
  45. EGFR Peptides as Vaccines in Anti-Tumor Immunity
    Mark Mamula; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  46. DEREGULATION BY HU PROTEINS IN LUNG CANCER
    Ite Laird Offringa; Fiscal Year: 2002
    ..The study of the role of Hu proteins in SCLC offers a unique opportunity to begin to understand the role of RNA- binding proteins in the development and progression of cancer. ..
  47. MOLECULAR BIOLOGY OF TRANSALDOLASE
    Andras Perl; Fiscal Year: 2004
    ..The proposed studies with the availability of unique reagents and existing model systems will further our knowledge on the role of TAL in the PPP, apoptosis signaling, and related disease processes. ..
  48. Spinal Muscular Atrophy-- SMNs role in motor neurons
    Arthur Burghes; Fiscal Year: 2004
    ..These developments will be important in developing treatments for SMA. ..
  49. Lung Cancer Diagnosis Using DNA Methylation Signatures
    Ite Laird Offringa; Fiscal Year: 2004
    ....
  50. Mitochondrial dysfunction in patients with SLE
    Andras Perl; Fiscal Year: 2004
    ..Thus, checkpoints of mitochondrial hyperpolarization could represent novel targets of pharmacological intervention in patients with SLE. ..
  51. Mechanisms of 3' Splice Site Selection in S. cerevisiae
    DAVID MCPHEETERS; Fiscal Year: 2005
    ..Because these enzymes have important roles in all aspects of cellular RNA metabolism, the results of these studies will be relevant to the study of their functions in other biological contexts. ..
  52. Isoaspartyl Modified Tumor Antigens for Vaccination
    Mark Mamula; Fiscal Year: 2004
    ..It is anticipated that this approach will lead to novel immunotherapies for the treatment of human tumors. ..
  53. Computations of Fold Changes in Evolution of Proteins
    Nick Grishin; Fiscal Year: 2006
    ..Finally, we will perform in silico evolution of model proteins under functional constraints and compare the results to those deduced from the analysis of natural sequences and structures. ..
  54. Role of G protein Coupling in Fe(ll)-Uptake in Bacteria
    Vinzenz Unger; Fiscal Year: 2006
    ..The fourth aim is to generate crystals of FeoB embedded in a lipid bilayer. Ultimately, this will allow visualization of FeoB, and reveal whether its structure is related to other G protein-coupled membrane proteins. ..
  55. CIITA and MHC II Transcription
    BORIS PETERLIN; Fiscal Year: 2007
    ..Collectively, these studies will reveal the normal physiology of CIITA, why it oligomerizes and shuttles, and create new tools to manipulate the immune response in health and disease. ..
  56. Tools for Membrane Protein Structure Determination
    Vinzenz Unger; Fiscal Year: 2004
    ..This approach may make a large number of membrane proteins amenable to 2D-crystallization and structure determination. ..
  57. ApoE Receptor LR11 in Alzheimer's Etiopathogenesis
    James Lah; Fiscal Year: 2007
    ..These Aims will test our central hypothesis and the findings will generate insights into the biology of apoE receptors, and the results may identify LR11 as an important new target for AD therapeutics. ..
  58. Targeted pre-mRNA modification and gene silencing
    Yi Tao Yu; Fiscal Year: 2007
    ..We believe that our novel method will prove effective and useful in mammalian systems as well as in yeast. [unreadable] [unreadable] [unreadable]..
  59. RNA Binding Proteins & Alternative Splicing
    Paula Grabowski; Fiscal Year: 2007
    ..This research project will advance our understanding of the underlying mechanisms and plasticity of neuron-specific splicing, and provide insights into how these mechanisms fail in human disease. ..
  60. GENETIC ANALYSIS OF HUMAN BRAIN DEVELOPMENT
    Jeffrey Ming; Fiscal Year: 2001
    ....