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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

RNA Splicing

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Disease relevance of RNA Splicing


High impact information on RNA Splicing

  • Tissues of the blotchy mouse contained two larger sizes of MNK mRNA demonstrating a likely defect in RNA splicing [6].
  • A genetic selection was devised to recover second-site mutations that bypass the requirement for MER1 in MER2 RNA-splicing [7].
  • Defects in messenger RNA splicing were investigated by the detection of illegitimate transcription of the PTH gene in lymphoblastoid cells [8].
  • Function of Neurospora mitochondrial tyrosyl-tRNA synthetase in RNA splicing requires an idiosyncratic domain not found in other synthetases [9].
  • By site-directed mutagenesis, we determined that the 70K protein consists of 437 amino acids (52 kd), and found that its aberrant electrophoretic migration is due to a carboxy-terminal charged domain structurally similar to two Drosophila proteins (su(wa) and tra) that may regulate alternative pre-messenger RNA splicing [10].

Chemical compound and disease context of RNA Splicing


Biological context of RNA Splicing

  • During pre-messenger RNA splicing the lariat branch point in mammalian introns is specified independently of the 3' splice site by the sequence surrounding the branch point and by an adjacent downstream polypyrimidine tract [14].
  • Here we show that the Saccharomyces cerevisiae telomerase RNA has a 5'-2,2,7-trimethylguanosine (TMG) cap and a binding site for the Sm proteins, both hallmarks of small nuclear ribonucleoprotein particles (snRNPs) that are involved in nuclear messenger RNA splicing [15].
  • The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation [16].
  • These observations implicate developmentally coordinated differential RNA splicing in the regulation of neuron-specific gene expression and substantiate the correlation of synapsin gene expression with the period of synaptogenic differentiation of neurons [17].
  • This point mutation completely abolishes normal RNA splicing at the exon 4/intron 4 boundary and results in the activation of a cryptic splice donor site in exon 4, which leads to the deletion of 123 nucleotides from the mRNA [18].

Anatomical context of RNA Splicing

  • The large subunit of the human pre-messenger RNA splicing factor U2 small nuclear ribonucleoprotein auxiliary factor (hU2AF65) is required for spliceosome assembly in vitro [19].
  • CAF1, CAF2 and the previously described group II intron splicing factor CRS1 are characterized by similar repeated domains, which we name here the CRM (chloroplast RNA splicing and ribosome maturation) domains [20].
  • Raver1 colocalizes with polypyrimidine tract binding protein (PTB)/hnRNPI, a protein involved in RNA splicing of microfilament proteins, in the perinucleolar compartment and forms complexes with PTB/hnRNPI [21].
  • Most targets are constitutively expressed proteins that function in diverse cellular pathways, including RNA splicing, chromatin remodeling/polymerase II transcription, cytoskeleton organization and regulation, stress responses, and translation [22].
  • Multiple RNA splicing pathways are thus operative in the protein 4.1 gene even within a single cell lineage, human erythroid cells [23].

Associations of RNA Splicing with chemical compounds

  • Analysis of messenger RNA splicing in yeast and in metazoa has led to the identification of an RNA molecule in a lariat conformation [24].
  • The basic chemistry involved in DNA recombination, RNA splicing and DNA transposition is a phosphoryl transfer reaction [25].
  • To investigate whether glucose regulates insulin synthesis at the level of insulin RNA splicing, we developed a method to detect and quantify a small amount of RNA by using the branched DNA (bDNA) signal-amplification technique [26].
  • Insulin RNA splicing rates were estimated from the rate of disappearance of insulin preRNA signal from beta cells treated with actinomycin D to block transcription [26].
  • Intron-encoded proteins that also assist RNA splicing would facilitate both the transposition and horizontal transmission of introns [27].

Gene context of RNA Splicing

  • Dominant mutations in the yeast nuclear gene NAM2 cure the RNA splicing deficiency resulting from the inactivation of the bI4 maturase encoded by the fourth intron of the mitochondrial cytochrome b gene [28].
  • Furthermore, analyses of mutant constructs of dsx showed that a portion of the female-specific exon sequence was required for regulation of dsx pre-messenger RNA splicing [29].
  • The DED1 gene, which encodes a putative RNA helicase, has been implicated in nuclear pre-messenger RNA splicing in the yeast Saccharomyces cerevisiae [30].
  • Suppression of plasmid instability in hpr1Delta can also be achieved by high-copy expression of the RNA splicing factor SUB2, which has recently been proposed to function in mRNA export, in addition to its role in pre-mRNA splicing [31].
  • This protein, encoded by the PET54 gene, controls expression of COX1 at the level of RNA splicing and COX3 at the level of mRNA translation [32].

Analytical, diagnostic and therapeutic context of RNA Splicing


  1. Coupling of Tetrahymena ribosomal RNA splicing to beta-galactosidase expression in Escherichia coli. Price, J.V., Cech, T.R. Science (1985) [Pubmed]
  2. Cell-specific regulation of agrin RNA splicing in the chick ciliary ganglion. Smith, M.A., O'Dowd, D.K. Neuron (1994) [Pubmed]
  3. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Tiller, G.E., Weis, M.A., Polumbo, P.A., Gruber, H.E., Rimoin, D.L., Cohn, D.H., Eyre, D.R. Am. J. Hum. Genet. (1995) [Pubmed]
  4. Inaugural Article: A bacterial group II intron-encoded reverse transcriptase localizes to cellular poles. Zhao, J., Lambowitz, A.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  5. Presence of exon splicing silencers within human immunodeficiency virus type 1 tat exon 2 and tat-rev exon 3: evidence for inhibition mediated by cellular factors. Amendt, B.A., Si, Z.H., Stoltzfus, C.M. Mol. Cell. Biol. (1995) [Pubmed]
  6. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Mercer, J.F., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J.A., Dierick, H., Glover, T.W. Nat. Genet. (1994) [Pubmed]
  7. Mutations in U1 snRNA bypass the requirement for a cell type-specific RNA splicing factor. Nandabalan, K., Price, L., Roeder, G.S. Cell (1993) [Pubmed]
  8. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Parkinson, D.B., Thakker, R.V. Nat. Genet. (1992) [Pubmed]
  9. Function of Neurospora mitochondrial tyrosyl-tRNA synthetase in RNA splicing requires an idiosyncratic domain not found in other synthetases. Cherniack, A.D., Garriga, G., Kittle, J.D., Akins, R.A., Lambowitz, A.M. Cell (1990) [Pubmed]
  10. A common RNA recognition motif identified within a defined U1 RNA binding domain of the 70K U1 snRNP protein. Query, C.C., Bentley, R.C., Keene, J.D. Cell (1989) [Pubmed]
  11. Impaired RNA splicing of 5'-regulatory sequences of the astroglial glutamate transporter EAAT2 in human astrocytoma. Münch, C., Penndorf, A., Schwalenstöcker, B., Troost, D., Ludolph, A.C., Ince, P., Meyer, T. J. Neurol. Neurosurg. Psychiatr. (2001) [Pubmed]
  12. A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy. Mashima, Y., Weleber, R.G., Kennaway, N.G., Inana, G. Hum. Genet. (1992) [Pubmed]
  13. Nickel mutagenesis: alteration of the MuSVts110 thermosensitive splicing phenotype by a nickel-induced duplication of the 3' splice site. Chiocca, S.M., Sterner, D.A., Biggart, N.W., Murphy, E.C. Mol. Carcinog. (1991) [Pubmed]
  14. Scanning from an independently specified branch point defines the 3' splice site of mammalian introns. Smith, C.W., Porro, E.B., Patton, J.G., Nadal-Ginard, B. Nature (1989) [Pubmed]
  15. Saccharomyces cerevisiae telomerase is an Sm small nuclear ribonucleoprotein particle. Seto, A.G., Zaug, A.J., Sobel, S.G., Wolin, S.L., Cech, T.R. Nature (1999) [Pubmed]
  16. The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation. Petersen-Mahrt, S.K., Estmer, C., Ohrmalm, C., Matthews, D.A., Russell, W.C., Akusjärvi, G. EMBO J. (1999) [Pubmed]
  17. Multiple synapsin I messenger RNAs are differentially regulated during neuronal development. Haas, C.A., DeGennaro, L.J. J. Cell Biol. (1988) [Pubmed]
  18. Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity. Ris-Stalpers, C., Kuiper, G.G., Faber, P.W., Schweikert, H.U., van Rooij, H.C., Zegers, N.D., Hodgins, M.B., Degenhart, H.J., Trapman, J., Brinkmann, A.O. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  19. The conserved pre-mRNA splicing factor U2AF from Drosophila: requirement for viability. Kanaar, R., Roche, S.E., Beall, E.L., Green, M.R., Rio, D.C. Science (1993) [Pubmed]
  20. Group II intron splicing factors derived by diversification of an ancient RNA-binding domain. Ostheimer, G.J., Williams-Carrier, R., Belcher, S., Osborne, E., Gierke, J., Barkan, A. EMBO J. (2003) [Pubmed]
  21. Raver1, a dual compartment protein, is a ligand for PTB/hnRNPI and microfilament attachment proteins. Hüttelmaier, S., Illenberger, S., Grosheva, I., Rüdiger, M., Singer, R.H., Jockusch, B.M. J. Cell Biol. (2001) [Pubmed]
  22. Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways. Zhao, C., Denison, C., Huibregtse, J.M., Gygi, S., Krug, R.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  23. Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells. Conboy, J.G., Chan, J., Mohandas, N., Kan, Y.W. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  24. Cleavage of 5' splice site and lariat formation are independent of 3' splice site in yeast mRNA splicing. Rymond, B.C., Rosbash, M. Nature (1985) [Pubmed]
  25. Phosphoryl transfer in Flp recombination: a template for strand transfer mechanisms. Jayaram, M. Trends Biochem. Sci. (1994) [Pubmed]
  26. Regulation of insulin preRNA splicing by glucose. Wang, J., Shen, L., Najafi, H., Kolberg, J., Matschinsky, F.M., Urdea, M., German, M. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  27. A protein encoded by a group I intron in Aspergillus nidulans directly assists RNA splicing and is a DNA endonuclease. Ho, Y., Kim, S.J., Waring, R.B. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  28. The yeast nuclear gene NAM2 is essential for mitochondrial DNA integrity and can cure a mitochondrial RNA-maturase deficiency. Labouesse, M., Dujardin, G., Slonimski, P.P. Cell (1985) [Pubmed]
  29. Control of doublesex alternative splicing by transformer and transformer-2 in Drosophila. Hoshijima, K., Inoue, K., Higuchi, I., Sakamoto, H., Shimura, Y. Science (1991) [Pubmed]
  30. Requirement of the DEAD-Box protein ded1p for messenger RNA translation. Chuang, R.Y., Weaver, P.L., Liu, Z., Chang, T.H. Science (1997) [Pubmed]
  31. Role of transcription in plasmid maintenance in the hpr1Delta mutant of Saccharomyces cerevisiae. Merker, R.J., Klein, H.L. Mol. Cell. Biol. (2002) [Pubmed]
  32. Genetic evidence that different functional domains of the PET54 gene product facilitate expression of the mitochondrial genes COX1 and COX3 in Saccharomyces cerevisiae. Valencik, M.L., McEwen, J.E. Mol. Cell. Biol. (1991) [Pubmed]
  33. Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation. Condino-Neto, A., Newburger, P.E. Blood (2000) [Pubmed]
  34. Neuronally restricted RNA splicing regulates the expression of a novel GABAA receptor subunit conferring atypical functional properties [corrected; erratum to be published]. Whiting, P.J., McAllister, G., Vassilatis, D., Bonnert, T.P., Heavens, R.P., Smith, D.W., Hewson, L., O'Donnell, R., Rigby, M.R., Sirinathsinghji, D.J., Marshall, G., Thompson, S.A., Wafford, K.A., Vasilatis, D. J. Neurosci. (1997) [Pubmed]
  35. A combination of RNase H and S1 nuclease circumvents an artefact inherent to conventional S1 analysis of RNA splicing. Sisodia, S.S., Cleveland, D.W., Sollner-Webb, B. Nucleic Acids Res. (1987) [Pubmed]
  36. Chicken NFI/TGGCA proteins are encoded by at least three independent genes: NFI-A, NFI-B and NFI-C with homologues in mammalian genomes. Rupp, R.A., Kruse, U., Multhaup, G., Göbel, U., Beyreuther, K., Sippel, A.E. Nucleic Acids Res. (1990) [Pubmed]
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