Nucleic Acids Research, 1987, Vol. 15, No. 17 7155-7174
© 1987
Articles |
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
Laboratory of Statistical and Mathematical Methodology, Division of Computer Research and Technology, National Institutes of Health Bethesda, MD 20892, USA
Received February 19, 1987. Revised August 10, 1987. Accepted August 10, 1987.
A systematic analysis of the RNA splice junction sequences of eukaryotic protein coding genes was carried out using the GENBANK databank. Nucleotide frequencies obtained for the highly conserved regions around the splice sites for different categories of organisms closely agree with each other. A striking similarity among the rare splice junctions which do not contain AG at the 3' splice site or GT at the 5' splice site indicates the existence of special mechanisms to recognize them, and that these unique signals may be involved in crucial gene-regulation events and in differentiation. A method was developed to predict potential exons in a bare sequence, using a scoring and ranking scheme based on nucleotide weight tables. This method was used to find a majority of the exons in selected known genes, and also predicted potential new exons which may be used in alternative splicing situations.
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I. CARMEL, S. TAL, I. VIG, and G. AST Comparative analysis detects dependencies among the 5' splice-site positions RNA, May 1, 2004; 10(5): 828 - 840. [Abstract] [Full Text] [PDF]
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 D. H. Choi, M. H. Lee, A. E. Bale, D. Carter, and B. G. Haffty Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients J. Clin. Oncol., May 1, 2004; 22(9): 1638 - 1645. [Abstract] [Full Text] [PDF]
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M. Sironi, G. Menozzi, L. Riva, R. Cagliani, G. P. Comi, N. Bresolin, R. Giorda, and U. Pozzoli Silencer elements as possible inhibitors of pseudoexon splicing Nucleic Acids Res., March 19, 2004; 32(5): 1783 - 1791. [Abstract] [Full Text] [PDF]
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M. Freund, C. Asang, S. Kammler, C. Konermann, J. Krummheuer, M. Hipp, I. Meyer, W. Gierling, S. Theiss, T. Preuss, et al. A novel approach to describe a U1 snRNA binding site Nucleic Acids Res., December 1, 2003; 31(23): 6963 - 6975. [Abstract] [Full Text] [PDF]
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X. H-F. Zhang, K. A. Heller, I. Hefter, C. S. Leslie, and L. A. Chasin Sequence Information for the Splicing of Human Pre-mRNA Identified by Support Vector Machine Classification Genome Res., December 1, 2003; 13(12): 2637 - 2650. [Abstract] [Full Text] [PDF]
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K. Ohno, M. Milone, X.-M. Shen, and A. G. Engel A frameshifting mutation in CHRNE unmasks skipping of the preceding exon Hum. Mol. Genet., December 1, 2003; 12(23): 3055 - 3066. [Abstract] [Full Text] [PDF]
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E van Wijk, E Krieger, M H Kemperman, E M R De Leenheer, P L M Huygen, C W R J Cremers, F P M Cremers, and H Kremer A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) J. Med. Genet., December 1, 2003; 40(12): 879 - 884. [Abstract] [Full Text]
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X. Roca, R. Sachidanandam, and A. R. Krainer Intrinsic differences between authentic and cryptic 5' splice sites Nucleic Acids Res., November 1, 2003; 31(21): 6321 - 6333. [Abstract] [Full Text] [PDF]
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 R. Santer, M. Kinner, C. L. Lassen, R. Schneppenheim, P. Eggert, M. Bald, J. Brodehl, M. Daschner, J. H.H. Ehrich, M. Kemper, et al. Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria J. Am. Soc. Nephrol., November 1, 2003; 14(11): 2873 - 2882. [Abstract] [Full Text] [PDF]
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A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmuller, and C R Muller A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B J. Med. Genet., October 1, 2003; 40(10): e115 - 115. [Full Text] [PDF]
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I. Aznarez, E. M. Chan, J. Zielenski, B. J. Blencowe, and L.-C. Tsui Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene Hum. Mol. Genet., August 15, 2003; 12(16): 2031 - 2040. [Abstract] [Full Text] [PDF]
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S. Takashima, S. Tsuji, and M. Tsujimoto Comparison of the Enzymatic Properties of Mouse {beta}-Galactoside {alpha}2,6-Sialyltransferases, ST6Gal I and II J. Biochem., August 1, 2003; 134(2): 287 - 296. [Abstract] [Full Text] [PDF]
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L. J. Worrillow, L. B. Travis, A. G. Smith, S. Rollinson, A. J. Smith, C. P. Wild, E. J. Holowaty, B. A. Kohler, T. Wiklund, E. Pukkala, et al. An Intron Splice Acceptor Polymorphism in hMSH2 and Risk of Leukemia after Treatment with Chemotherapeutic Alkylating Agents Clin. Cancer Res., August 1, 2003; 9(8): 3012 - 3020. [Abstract] [Full Text] [PDF]
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K. Borensztajn, M.-L. Sobrier, A.-M. Fischer, O. Chafa, S. Amselem, and J. Tapon-Bretaudiere Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection Blood, July 15, 2003; 102(2): 561 - 563. [Abstract] [Full Text] [PDF]
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A De Sandre-Giovannoli, M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J M Vallat, N Levy, and A Megarbane Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations J. Med. Genet., July 1, 2003; 40(7): e87 - 87. [Full Text] [PDF]
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A S Ramalho, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, and M D Amaral Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers J. Med. Genet., July 1, 2003; 40(7): e88 - 88. [Full Text] [PDF]
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