Use of an exon-trapping vector for the evaluation of splice-site mutations

Mammalian Genome

Volumn 18, Issue 9, 2007, Pages 670-676

  Schneider, Boris ^a   Koppius, Andrea ^a   Sedlmeier, Reinhard ^a  

^a Ingenium Pharmaceuticals AG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EXON; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; IN VIVO STUDY; MOUSE; NONHUMAN; PHENOTYPE; RNA ISOLATION; RNA PROCESSING; RNA SPLICING; WILD TYPE;

ANIMALS; CELL LINE; EXONS; FRAMESHIFT MUTATION; GENETIC VECTORS; HUMANS; MICE; MICE, INBRED C3H; MODELS, ANIMAL; PREDICTIVE VALUE OF TESTS; RNA SPLICE SITES; RNA SPLICING;

MURINAE;

EID: 35048831303     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-007-9047-z     Document Type: Article

References (17)

1. Andreadis A, Nisson PE, Kosik KS, Watkins PC (1993) The exon trapping assay partly discriminates against alternatively spliced exons. Nucleic Acids Res 21:2217-2221
2. Augustin M, Sedlmeier R, Peters T, Huffstadt U, Kochmann E, et al. (2005) Efficient and fast targeted production of murine models based on ENU mutagenesis. Mamm Genome 16:405-413
3. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411-2414
4. Burn TC, Connors TD, Klinger KW, Landes GM (1995) Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. Gene 161:183-187
5. Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, et al. (1994) Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 6:98-105
6. Cordes SP (2005) N-ethyl-N-nitrosourea mutagenesis: boarding the mouse mutant express. Microbiol Mol Biol Rev 69:426-439
7. Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17:419-437
8. Harris NL, Senapathy P (1990) Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis. Nucleic Acids Res 18:3015-3019
9. Hoyne GF, Goodnow CC (2006) The use of genomewide ENU mutagenesis screens to unravel complex mammalian traits: identifying genes that regulate organ-specific and systemic autoimmunity. Immunol Rev 210:27-39
10. Jablonski MM, Wang X, Lu L, Miller DR, Rinchik EM, et al. (2005) The Tennessee Mouse Genome Consortium: identification of ocular mutants. Vis Neurosci 22:595-604
11. Ludwig L, Janssen JW, Bartram CR (1995) Exon trap analysis of a NF1 splice-site mutation in a chronic myelomonocytic leukemia patient. Leukemia 9:922-924
12. Michaud EJ, Culiat CT, Klebig ML, Barker PE, Cain KT, et al. (2005) Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice. BMC Genomics 6:164
13. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119-1150
14. Reed R (1996) Initial splice-site recognition and pairing during pre-mRNA splicing. Curr Opin Genet Dev 6:215-220
15. Reutrakul S, Dumitrescu A, Macchia PE, Moll GW, Vierhapper H, et al. (2002) Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab 87:1045-1051
16. Will CL, Luhrmann R (2001) Spliceosomal UsnRNP biogenesis, structure and function. Curr Opin Cell Biol 13:290-301
17. Wilson L, Ching YH, Farias M, Hartford SA, Howell G, et al. (2005) Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Genome Res 15:1095-1105