Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
editorial
. 1996 Aug;59(2):279–286.

Defects in RNA splicing and the consequence of shortened translational reading frames.

L E Maquat
PMCID: PMC1914736  PMID: 8755945

Full text

PDF
279

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aoufouchi S., Yélamos J., Milstein C. Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell. 1996 May 3;85(3):415–422. doi: 10.1016/s0092-8674(00)81119-8. [DOI] [PubMed] [Google Scholar]
  2. Bach G., Moskowitz S. M., Tieu P. T., Matynia A., Neufeld E. F. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet. 1993 Aug;53(2):330–338. [PMC free article] [PubMed] [Google Scholar]
  3. Belgrader P., Cheng J., Maquat L. E. Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA. Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):482–486. doi: 10.1073/pnas.90.2.482. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Belgrader P., Cheng J., Zhou X., Stephenson L. S., Maquat L. E. Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. Mol Cell Biol. 1994 Dec;14(12):8219–8228. doi: 10.1128/mcb.14.12.8219. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Belgrader P., Maquat L. E. Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol Cell Biol. 1994 Sep;14(9):6326–6336. doi: 10.1128/mcb.14.9.6326. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Berget S. M. Exon recognition in vertebrate splicing. J Biol Chem. 1995 Feb 10;270(6):2411–2414. doi: 10.1074/jbc.270.6.2411. [DOI] [PubMed] [Google Scholar]
  7. Carter M. S., Doskow J., Morris P., Li S., Nhim R. P., Sandstedt S., Wilkinson M. F. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J Biol Chem. 1995 Dec 1;270(48):28995–29003. doi: 10.1074/jbc.270.48.28995. [DOI] [PubMed] [Google Scholar]
  8. Chang J. C., Kan Y. W. beta 0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci U S A. 1979 Jun;76(6):2886–2889. doi: 10.1073/pnas.76.6.2886. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Chelly J., Gilgenkrantz H., Hugnot J. P., Hamard G., Lambert M., Récan D., Akli S., Cometto M., Kahn A., Kaplan J. C. Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. J Clin Invest. 1991 Oct;88(4):1161–1166. doi: 10.1172/JCI115417. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Cheng J., Belgrader P., Zhou X., Maquat L. E. Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance. Mol Cell Biol. 1994 Sep;14(9):6317–6325. doi: 10.1128/mcb.14.9.6317. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Cheng J., Maquat L. E. Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA. Mol Cell Biol. 1993 Mar;13(3):1892–1902. doi: 10.1128/mcb.13.3.1892. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Christiano A. M., Hoffman G. G., Chung-Honet L. C., Lee S., Cheng W., Uitto J., Greenspan D. S. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics. 1994 May 1;21(1):169–179. doi: 10.1006/geno.1994.1239. [DOI] [PubMed] [Google Scholar]
  13. Daar I. O., Maquat L. E. Premature translation termination mediates triosephosphate isomerase mRNA degradation. Mol Cell Biol. 1988 Feb;8(2):802–813. doi: 10.1128/mcb.8.2.802. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Dietz H. C., Kendzior R. J., Jr Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet. 1994 Oct;8(2):183–188. doi: 10.1038/ng1094-183. [DOI] [PubMed] [Google Scholar]
  15. Dietz H. C., Pyeritz R. E. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4(Spec No):1799–1809. doi: 10.1093/hmg/4.suppl_1.1799. [DOI] [PubMed] [Google Scholar]
  16. Dietz H. C., Valle D., Francomano C. A., Kendzior R. J., Jr, Pyeritz R. E., Cutting G. R. The skipping of constitutive exons in vivo induced by nonsense mutations. Science. 1993 Jan 29;259(5095):680–683. doi: 10.1126/science.8430317. [DOI] [PubMed] [Google Scholar]
  17. Fisher C. W., Fisher C. R., Chuang J. L., Lau K. S., Chuang D. T., Cox R. P. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Am J Hum Genet. 1993 Feb;52(2):414–424. [PMC free article] [PubMed] [Google Scholar]
  18. Gardella R., Belletti L., Zoppi N., Marini D., Barlati S., Colombi M. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet. 1996 Aug;59(2):292–300. [PMC free article] [PubMed] [Google Scholar]
  19. Gibson R. A., Hajianpour A., Murer-Orlando M., Buchwald M., Mathew C. G. A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet. 1993 Jun;2(6):797–799. doi: 10.1093/hmg/2.6.797. [DOI] [PubMed] [Google Scholar]
  20. Green M. R. Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Annu Rev Cell Biol. 1991;7:559–599. doi: 10.1146/annurev.cb.07.110191.003015. [DOI] [PubMed] [Google Scholar]
  21. Hall G. W., Thein S. Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. Blood. 1994 Apr 15;83(8):2031–2037. [PubMed] [Google Scholar]
  22. Hamosh A., Rosenstein B. J., Cutting G. R. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Hum Mol Genet. 1992 Oct;1(7):542–544. doi: 10.1093/hmg/1.7.542. [DOI] [PubMed] [Google Scholar]
  23. Hawkins J. D. A survey on intron and exon lengths. Nucleic Acids Res. 1988 Nov 11;16(21):9893–9908. doi: 10.1093/nar/16.21.9893. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Hull J., Shackleton S., Harris A. The stop mutation R553X in the CFTR gene results in exon skipping. Genomics. 1994 Jan 15;19(2):362–364. doi: 10.1006/geno.1994.1070. [DOI] [PubMed] [Google Scholar]
  25. Kantor J. A., Turner P. H., Nienhuis A. W. Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor. Cell. 1980 Aug;21(1):149–157. doi: 10.1016/0092-8674(80)90122-1. [DOI] [PubMed] [Google Scholar]
  26. Kazazian H. H., Jr, Dowling C. E., Hurwitz R. L., Coleman M., Stopeck A., Adams J. G., 3rd Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. Blood. 1992 Jun 1;79(11):3014–3018. [PubMed] [Google Scholar]
  27. Krawczak M., Reiss J., Cooper D. N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992 Sep-Oct;90(1-2):41–54. doi: 10.1007/BF00210743. [DOI] [PubMed] [Google Scholar]
  28. Legrain P., Rosbash M. Some cis- and trans-acting mutants for splicing target pre-mRNA to the cytoplasm. Cell. 1989 May 19;57(4):573–583. doi: 10.1016/0092-8674(89)90127-x. [DOI] [PubMed] [Google Scholar]
  29. Lim S. K., Maquat L. E. Human beta-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates lacking regions of exon I or exons I and II that have a cap-like structure at the 5' termini. EMBO J. 1992 Sep;11(9):3271–3278. doi: 10.1002/j.1460-2075.1992.tb05405.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Lim S. K., Sigmund C. D., Gross K. W., Maquat L. E. Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. Mol Cell Biol. 1992 Mar;12(3):1149–1161. doi: 10.1128/mcb.12.3.1149. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Lim S., Mullins J. J., Chen C. M., Gross K. W., Maquat L. E. Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice. EMBO J. 1989 Sep;8(9):2613–2619. doi: 10.1002/j.1460-2075.1989.tb08401.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Lozano F., Maertzdorf B., Pannell R., Milstein C. Low cytoplasmic mRNA levels of immunoglobulin kappa light chain genes containing nonsense codons correlate with inefficient splicing. EMBO J. 1994 Oct 3;13(19):4617–4622. doi: 10.1002/j.1460-2075.1994.tb06783.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Maquat L. E., Kinniburgh A. J., Beach L. R., Honig G. R., Lazerson J., Ershler W. B., Ross J. Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia. Proc Natl Acad Sci U S A. 1980 Jul;77(7):4287–4291. doi: 10.1073/pnas.77.7.4287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Maquat L. E., Kinniburgh A. J., Rachmilewitz E. A., Ross J. Unstable beta-globin mRNA in mRNA-deficient beta o thalassemia. Cell. 1981 Dec;27(3 Pt 2):543–553. doi: 10.1016/0092-8674(81)90396-2. [DOI] [PubMed] [Google Scholar]
  35. Maquat L. E. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA. 1995 Jul;1(5):453–465. [PMC free article] [PubMed] [Google Scholar]
  36. Markiewicz S., Subtil A., Dautry-Varsat A., Fischer A., de Saint Basile G. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. Genomics. 1994 May 1;21(1):291–293. doi: 10.1006/geno.1994.1265. [DOI] [PubMed] [Google Scholar]
  37. Menon K. P., Neufeld E. F. Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles. Cell Mol Biol (Noisy-le-grand) 1994 Nov;40(7):999–1005. [PubMed] [Google Scholar]
  38. Naeger L. K., Schoborg R. V., Zhao Q., Tullis G. E., Pintel D. J. Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product. Genes Dev. 1992 Jun;6(6):1107–1119. doi: 10.1101/gad.6.6.1107. [DOI] [PubMed] [Google Scholar]
  39. Nakai K., Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene. 1994 Apr 20;141(2):171–177. doi: 10.1016/0378-1119(94)90567-3. [DOI] [PubMed] [Google Scholar]
  40. Naylor J. A., Green P. M., Rizza C. R., Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet. 1993 Jan;2(1):11–17. doi: 10.1093/hmg/2.1.11. [DOI] [PubMed] [Google Scholar]
  41. Nesic D., Maquat L. E. Upstream introns influence the efficiency of final intron removal and RNA 3'-end formation. Genes Dev. 1994 Feb 1;8(3):363–375. doi: 10.1101/gad.8.3.363. [DOI] [PubMed] [Google Scholar]
  42. Ohno M., Shimura Y. A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. Genes Dev. 1996 Apr 15;10(8):997–1007. doi: 10.1101/gad.10.8.997. [DOI] [PubMed] [Google Scholar]
  43. Orkin S. H., Kazazian H. H., Jr The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet. 1984;18:131–171. doi: 10.1146/annurev.ge.18.120184.001023. [DOI] [PubMed] [Google Scholar]
  44. Qian L., Theodor L., Carter M., Vu M. N., Sasaki A. W., Wilkinson M. F. T cell receptor-beta mRNA splicing: regulation of unusual splicing intermediates. Mol Cell Biol. 1993 Mar;13(3):1686–1696. doi: 10.1128/mcb.13.3.1686. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Redford-Badwal D. A., Stover M. L., Valli M., McKinstry M. B., Rowe D. W. Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J Clin Invest. 1996 Feb 15;97(4):1035–1040. doi: 10.1172/JCI118495. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Santisteban I., Arredondo-Vega F. X., Kelly S., Loubser M., Meydan N., Roifman C., Howell P. L., Bowen T., Weinberg K. I., Schroeder M. L. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum Mol Genet. 1995 Nov;4(11):2081–2087. doi: 10.1093/hmg/4.11.2081. [DOI] [PubMed] [Google Scholar]
  47. Sharp P. A. Split genes and RNA splicing. Cell. 1994 Jun 17;77(6):805–815. doi: 10.1016/0092-8674(94)90130-9. [DOI] [PubMed] [Google Scholar]
  48. Sherratt T. G., Vulliamy T., Dubowitz V., Sewry C. A., Strong P. N. Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Genet. 1993 Nov;53(5):1007–1015. [PMC free article] [PubMed] [Google Scholar]
  49. Simpson S. B., Stoltzfus C. M. Frameshift mutations in the v-src gene of avian sarcoma virus act in cis to specifically reduce v-src mRNA levels. Mol Cell Biol. 1994 Mar;14(3):1835–1844. doi: 10.1128/mcb.14.3.1835. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Takeshita K., Forget B. G., Scarpa A., Benz E. J., Jr Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon. Blood. 1984 Jul;64(1):13–22. [PubMed] [Google Scholar]
  51. Targovnik H. M., Medeiros-Neto G., Varela V., Cochaux P., Wajchenberg B. L., Vassart G. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab. 1993 Jul;77(1):210–215. doi: 10.1210/jcem.77.1.8325944. [DOI] [PubMed] [Google Scholar]
  52. Thanh L. T., Nguyen T. M., Helliwell T. R., Morris G. E. Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin. Am J Hum Genet. 1995 Mar;56(3):725–731. [PMC free article] [PubMed] [Google Scholar]
  53. Thein S. L. Dominant beta thalassaemia: molecular basis and pathophysiology. Br J Haematol. 1992 Mar;80(3):273–277. doi: 10.1111/j.1365-2141.1992.tb08132.x. [DOI] [PubMed] [Google Scholar]
  54. Will K., Dörk T., Stuhrmann M., von der Hardt H., Ellemunter H., Tümmler B., Schmidtke J. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat. 1995;5(3):210–220. doi: 10.1002/humu.1380050305. [DOI] [PubMed] [Google Scholar]
  55. Winnard A. V., Mendell J. R., Prior T. W., Florence J., Burghes A. H. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet. 1995 Jan;56(1):158–166. [PMC free article] [PubMed] [Google Scholar]
  56. Zhang J., Maquat L. E. Evidence that the decay of nucleus-associated nonsense mRNA for human triosephosphate isomerase involves nonsense codon recognition after splicing. RNA. 1996 Mar;2(3):235–243. [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES