Abstract
It appears that no organism is immune to the effects of nonsense codons on mRNA abundance. The study of how nonsense codons alter RNA metabolism is still at an early stage, and our current understanding derives more from incidental vignettes than from experimental undertakings that address molecular mechanisms. Challenges for the future include identifying the gene products and RNA sequences that function in nonsense mediated RNA loss, resolving the cause and consequences of there apparently being more than one cellular site and mechanism for nonsense-mediated RNA loss, and understanding how these sites and mechanisms are related to both constitutive and specialized pathways of pre-mRNA processing and mRNA decay.
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Selected References
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- Atkin A. L., Altamura N., Leeds P., Culbertson M. R. The majority of yeast UPF1 co-localizes with polyribosomes in the cytoplasm. Mol Biol Cell. 1995 May;6(5):611–625. doi: 10.1091/mbc.6.5.611. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Atkins J. F., Weiss R. B., Gesteland R. F. Ribosome gymnastics--degree of difficulty 9.5, style 10.0. Cell. 1990 Aug 10;62(3):413–423. doi: 10.1016/0092-8674(90)90007-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Barker G. F., Beemon K. Nonsense codons within the Rous sarcoma virus gag gene decrease the stability of unspliced viral RNA. Mol Cell Biol. 1991 May;11(5):2760–2768. doi: 10.1128/mcb.11.5.2760. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Barker G. F., Beemon K. Rous sarcoma virus RNA stability requires an open reading frame in the gag gene and sequences downstream of the gag-pol junction. Mol Cell Biol. 1994 Mar;14(3):1986–1996. doi: 10.1128/mcb.14.3.1986. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Baserga S. J., Benz E. J., Jr Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci U S A. 1992 Apr 1;89(7):2935–2939. doi: 10.1073/pnas.89.7.2935. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Baumann B., Potash M. J., Köhler G. Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse. EMBO J. 1985 Feb;4(2):351–359. doi: 10.1002/j.1460-2075.1985.tb03636.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Beelman C. A., Parker R. Degradation of mRNA in eukaryotes. Cell. 1995 Apr 21;81(2):179–183. doi: 10.1016/0092-8674(95)90326-7. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- 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]
- Boles D. J., Proia R. L. The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation. Am J Hum Genet. 1995 Mar;56(3):716–724. [PMC free article] [PubMed] [Google Scholar]
- Burk R. F., Hill K. E. Regulation of selenoproteins. Annu Rev Nutr. 1993;13:65–81. doi: 10.1146/annurev.nu.13.070193.000433. [DOI] [PubMed] [Google Scholar]
- Carothers A. M., Urlaub G., Grunberger D., Chasin L. A. Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells. Mol Cell Biol. 1993 Aug;13(8):5085–5098. doi: 10.1128/mcb.13.8.5085. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Chasin L. A., Urlaub G., Mitchell P., Ciudad C., Barth J., Carothers A. M., Steigerwalt R., Grunberger D. RNA processing mutants at the dihydrofolate reductase locus in Chinese hamster ovary cells. Prog Clin Biol Res. 1990;340A:295–304. [PubMed] [Google Scholar]
- Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Récan D., Katz P., de la Chapelle A., Koenig M., Ginjaar I. B. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell. 1990 Dec 21;63(6):1239–1248. doi: 10.1016/0092-8674(90)90419-f. [DOI] [PubMed] [Google Scholar]
- Chen S. H., Habib G., Yang C. Y., Gu Z. W., Lee B. R., Weng S. A., Silberman S. R., Cai S. J., Deslypere J. P., Rosseneu M. Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon. Science. 1987 Oct 16;238(4825):363–366. doi: 10.1126/science.3659919. [DOI] [PubMed] [Google Scholar]
- 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]
- Cheng J., Fogel-Petrovic M., Maquat L. E. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol. 1990 Oct;10(10):5215–5225. doi: 10.1128/mcb.10.10.5215. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Connor A., Wiersma E., Shulman M. J. On the linkage between RNA processing and RNA translatability. J Biol Chem. 1994 Oct 7;269(40):25178–25184. [PubMed] [Google Scholar]
- Coutts M., Brawerman G. A 5' exoribonuclease from cytoplasmic extracts of mouse sarcoma 180 ascites cells. Biochim Biophys Acta. 1993 Apr 29;1173(1):57–62. doi: 10.1016/0167-4781(93)90242-6. [DOI] [PubMed] [Google Scholar]
- Cui Y., Hagan K. W., Zhang S., Peltz S. W. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev. 1995 Feb 15;9(4):423–436. doi: 10.1101/gad.9.4.423. [DOI] [PubMed] [Google Scholar]
- Culbertson M. R., Underbrink K. M., Fink G. R. Frameshift suppression Saccharomyces cerevisiae. II. Genetic properties of group II suppressors. Genetics. 1980 Aug;95(4):833–853. doi: 10.1093/genetics/95.4.833. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Das S., Levinson B., Whitney S., Vulpe C., Packman S., Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet. 1994 Nov;55(5):883–889. [PMC free article] [PubMed] [Google Scholar]
- Decker C. J., Parker R. A turnover pathway for both stable and unstable mRNAs in yeast: evidence for a requirement for deadenylation. Genes Dev. 1993 Aug;7(8):1632–1643. doi: 10.1101/gad.7.8.1632. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Enssle J., Kugler W., Hentze M. W., Kulozik A. E. Determination of mRNA fate by different RNA polymerase II promoters. Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10091–10095. doi: 10.1073/pnas.90.21.10091. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gaspar M. L., Meo T., Bourgarel P., Guenet J. L., Tosi M. A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8606–8610. doi: 10.1073/pnas.88.19.8606. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Hagan K. W., Ruiz-Echevarria M. J., Quan Y., Peltz S. W. Characterization of cis-acting sequences and decay intermediates involved in nonsense-mediated mRNA turnover. Mol Cell Biol. 1995 Feb;15(2):809–823. doi: 10.1128/mcb.15.2.809. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- 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]
- Hatfield D. L., Levin J. G., Rein A., Oroszlan S. Translational suppression in retroviral gene expression. Adv Virus Res. 1992;41:193–239. doi: 10.1016/S0065-3527(08)60037-8. [DOI] [PMC free article] [PubMed] [Google Scholar]
- He F., Jacobson A. Identification of a novel component of the nonsense-mediated mRNA decay pathway by use of an interacting protein screen. Genes Dev. 1995 Feb 15;9(4):437–454. doi: 10.1101/gad.9.4.437. [DOI] [PubMed] [Google Scholar]
- He F., Peltz S. W., Donahue J. L., Rosbash M., Jacobson A. Stabilization and ribosome association of unspliced pre-mRNAs in a yeast upf1- mutant. Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7034–7038. doi: 10.1073/pnas.90.15.7034. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Higgins C. F., Peltz S. W., Jacobson A. Turnover of mRNA in prokaryotes and lower eukaryotes. Curr Opin Genet Dev. 1992 Oct;2(5):739–747. doi: 10.1016/s0959-437x(05)80134-0. [DOI] [PubMed] [Google Scholar]
- Hill K. E., Lloyd R. S., Burk R. F. Conserved nucleotide sequences in the open reading frame and 3' untranslated region of selenoprotein P mRNA. Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):537–541. doi: 10.1073/pnas.90.2.537. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hodgkin J., Papp A., Pulak R., Ambros V., Anderson P. A new kind of informational suppression in the nematode Caenorhabditis elegans. Genetics. 1989 Oct;123(2):301–313. doi: 10.1093/genetics/123.2.301. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hsu C. L., Stevens A. Yeast cells lacking 5'-->3' exoribonuclease 1 contain mRNA species that are poly(A) deficient and partially lack the 5' cap structure. Mol Cell Biol. 1993 Aug;13(8):4826–4835. doi: 10.1128/mcb.13.8.4826. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Humphries R. K., Ley T. J., Anagnou N. P., Baur A. W., Nienhuis A. W. Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability. Blood. 1984 Jul;64(1):23–32. [PubMed] [Google Scholar]
- Jäck H. M., Berg J., Wabl M. Translation affects immunoglobulin mRNA stability. Eur J Immunol. 1989 May;19(5):843–847. doi: 10.1002/eji.1830190510. [DOI] [PubMed] [Google Scholar]
- Kadowaki T., Kadowaki H., Taylor S. I. A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc Natl Acad Sci U S A. 1990 Jan;87(2):658–662. doi: 10.1073/pnas.87.2.658. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Kessler O., Jiang Y., Chasin L. A. Order of intron removal during splicing of endogenous adenine phosphoribosyltransferase and dihydrofolate reductase pre-mRNA. Mol Cell Biol. 1993 Oct;13(10):6211–6222. doi: 10.1128/mcb.13.10.6211. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Krawczak M., Cooper D. N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet. 1991 Mar;86(5):425–441. doi: 10.1007/BF00194629. [DOI] [PubMed] [Google Scholar]
- Kugler W., Enssle J., Hentze M. W., Kulozik A. E. Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia? Nucleic Acids Res. 1995 Feb 11;23(3):413–418. doi: 10.1093/nar/23.3.413. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Leeds P., Peltz S. W., Jacobson A., Culbertson M. R. The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon. Genes Dev. 1991 Dec;5(12A):2303–2314. doi: 10.1101/gad.5.12a.2303. [DOI] [PubMed] [Google Scholar]
- Leeds P., Wood J. M., Lee B. S., Culbertson M. R. Gene products that promote mRNA turnover in Saccharomyces cerevisiae. Mol Cell Biol. 1992 May;12(5):2165–2177. doi: 10.1128/mcb.12.5.2165. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- 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]
- 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]
- 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]
- Longo N., Langley S. D., Griffin L. D., Elsas L. J., 2nd Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. Am J Hum Genet. 1992 May;50(5):998–1007. [PMC free article] [PubMed] [Google Scholar]
- 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]
- Lozano F., Rada C., Jarvis J. M., Milstein C. Affinity maturation leads to differential expression of multiple copies of a kappa light-chain transgene. Nature. 1993 May 20;363(6426):271–273. doi: 10.1038/363271a0. [DOI] [PubMed] [Google Scholar]
- Maquat L. E., Kinniburgh A. J. A beta zero-thalassemic beta-globin RNA that is labile in bone marrow cells is relatively stable in HeLa cells. Nucleic Acids Res. 1985 Apr 25;13(8):2855–2867. doi: 10.1093/nar/13.8.2855. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Mehlin H., Daneholt B., Skoglund U. Translocation of a specific premessenger ribonucleoprotein particle through the nuclear pore studied with electron microscope tomography. Cell. 1992 May 15;69(4):605–613. doi: 10.1016/0092-8674(92)90224-z. [DOI] [PubMed] [Google Scholar]
- 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]
- Moschonas N., de Boer E., Grosveld F. G., Dahl H. H., Wright S., Shewmaker C. K., Flavell R. A. Structure and expression of a cloned beta o thalassaemic globin gene. Nucleic Acids Res. 1981 Sep 11;9(17):4391–4401. doi: 10.1093/nar/9.17.4391. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Moskowitz S. M., Tieu P. T., Neufeld E. F. A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). Hum Mutat. 1993;2(1):71–73. doi: 10.1002/humu.1380020113. [DOI] [PubMed] [Google Scholar]
- Muhlrad D., Decker C. J., Parker R. Turnover mechanisms of the stable yeast PGK1 mRNA. Mol Cell Biol. 1995 Apr;15(4):2145–2156. doi: 10.1128/mcb.15.4.2145. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Muhlrad D., Parker R. Premature translational termination triggers mRNA decapping. Nature. 1994 Aug 18;370(6490):578–581. doi: 10.1038/370578a0. [DOI] [PubMed] [Google Scholar]
- Myerowitz R., Costigan F. C. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem. 1988 Dec 15;263(35):18587–18589. [PubMed] [Google Scholar]
- 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]
- 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]
- 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]
- Nilsson G., Belasco J. G., Cohen S. N., von Gabain A. Effect of premature termination of translation on mRNA stability depends on the site of ribosome release. Proc Natl Acad Sci U S A. 1987 Jul;84(14):4890–4894. doi: 10.1073/pnas.84.14.4890. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nishimoto J., Tanaka A., Nanba E., Suzuki K. Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease. J Biol Chem. 1991 Aug 5;266(22):14306–14309. [PubMed] [Google Scholar]
- Niwa M., MacDonald C. C., Berget S. M. Are vertebrate exons scanned during splice-site selection? Nature. 1992 Nov 19;360(6401):277–280. doi: 10.1038/360277a0. [DOI] [PubMed] [Google Scholar]
- 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]
- Paw B. H., Neufeld E. F. Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation. J Biol Chem. 1988 Feb 25;263(6):3012–3015. [PubMed] [Google Scholar]
- Peltz S. W., Brown A. H., Jacobson A. mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor. Genes Dev. 1993 Sep;7(9):1737–1754. doi: 10.1101/gad.7.9.1737. [DOI] [PubMed] [Google Scholar]
- Peltz S. W., He F., Welch E., Jacobson A. Nonsense-mediated mRNA decay in yeast. Prog Nucleic Acid Res Mol Biol. 1994;47:271–298. doi: 10.1016/s0079-6603(08)60254-8. [DOI] [PubMed] [Google Scholar]
- Powell L. M., Wallis S. C., Pease R. J., Edwards Y. H., Knott T. J., Scott J. A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine. Cell. 1987 Sep 11;50(6):831–840. doi: 10.1016/0092-8674(87)90510-1. [DOI] [PubMed] [Google Scholar]
- Pulak R., Anderson P. mRNA surveillance by the Caenorhabditis elegans smg genes. Genes Dev. 1993 Oct;7(10):1885–1897. doi: 10.1101/gad.7.10.1885. [DOI] [PubMed] [Google Scholar]
- 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]
- Qian L., Vu M. N., Carter M. S., Doskow J., Wilkinson M. F. T cell receptor-beta mRNA splicing during thymic maturation in vivo and in an inducible T cell clone in vitro. J Immunol. 1993 Dec 15;151(12):6801–6814. [PubMed] [Google Scholar]
- Ross J., Pizarro A. Human beta and delta globin messenger RNAs turn over at different rates. J Mol Biol. 1983 Jul 5;167(3):607–617. doi: 10.1016/s0022-2836(83)80101-6. [DOI] [PubMed] [Google Scholar]
- Satoh K., Nukiwa T., Brantly M., Garver R. I., Jr, Hofker M., Courtney M., Crystal R. G. Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet. 1988 Jan;42(1):77–83. [PMC free article] [PubMed] [Google Scholar]
- Scott H. S., Anson D. S., Orsborn A. M., Nelson P. V., Clements P. R., Morris C. P., Hopwood J. J. Human alpha-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9695–9699. doi: 10.1073/pnas.88.21.9695. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Scott H. S., Guo X. H., Hopwood J. J., Morris C. P. Structure and sequence of the human alpha-L-iduronidase gene. Genomics. 1992 Aug;13(4):1311–1313. doi: 10.1016/0888-7543(92)90053-u. [DOI] [PubMed] [Google Scholar]
- Senapathy P. Origin of eukaryotic introns: a hypothesis, based on codon distribution statistics in genes, and its implications. Proc Natl Acad Sci U S A. 1986 Apr;83(7):2133–2137. doi: 10.1073/pnas.83.7.2133. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Senapathy P., Shapiro M. B., Harris N. L. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol. 1990;183:252–278. doi: 10.1016/0076-6879(90)83018-5. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Sterner D. A., Berget S. M. In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit. Mol Cell Biol. 1993 May;13(5):2677–2687. doi: 10.1128/mcb.13.5.2677. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stover M. L., Primorac D., Liu S. C., McKinstry M. B., Rowe D. W. Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. J Clin Invest. 1993 Oct;92(4):1994–2002. doi: 10.1172/JCI116794. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- 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]
- Tuite M. F., Stansfield I. Translation. Knowing when to stop. Nature. 1994 Dec 15;372(6507):614–615. doi: 10.1038/372614a0. [DOI] [PubMed] [Google Scholar]
- Tycowski K. T., Shu M. D., Steitz J. A. Requirement for intron-encoded U22 small nucleolar RNA in 18S ribosomal RNA maturation. Science. 1994 Dec 2;266(5190):1558–1561. doi: 10.1126/science.7985025. [DOI] [PubMed] [Google Scholar]
- Urlaub G., Mitchell P. J., Ciudad C. J., Chasin L. A. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol. 1989 Jul;9(7):2868–2880. doi: 10.1128/mcb.9.7.2868. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wang Z., Hoffmann H. M., Grabowski P. J. Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity. RNA. 1995 Mar;1(1):21–35. [PMC free article] [PubMed] [Google Scholar]
- Whitfield T. T., Sharpe C. R., Wylie C. C. Nonsense-mediated mRNA decay in Xenopus oocytes and embryos. Dev Biol. 1994 Oct;165(2):731–734. doi: 10.1006/dbio.1994.1289. [DOI] [PubMed] [Google Scholar]
- Wilkinson M. F., MacLeod C. L. Complex regulation of the T cell receptor alpha gene: three different modes of triggering induction. Eur J Immunol. 1988 Jun;18(6):873–879. doi: 10.1002/eji.1830180607. [DOI] [PubMed] [Google Scholar]
- Wuarin J., Schibler U. Physical isolation of nascent RNA chains transcribed by RNA polymerase II: evidence for cotranscriptional splicing. Mol Cell Biol. 1994 Nov;14(11):7219–7225. doi: 10.1128/mcb.14.11.7219. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Yun D. F., Sherman F. Initiation of translation can occur only in a restricted region of the CYC1 mRNA of Saccharomyces cerevisiae. Mol Cell Biol. 1995 Feb;15(2):1021–1033. doi: 10.1128/mcb.15.2.1021. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Zhang S., Ruiz-Echevarria M. J., Quan Y., Peltz S. W. Identification and characterization of a sequence motif involved in nonsense-mediated mRNA decay. Mol Cell Biol. 1995 Apr;15(4):2231–2244. doi: 10.1128/mcb.15.4.2231. [DOI] [PMC free article] [PubMed] [Google Scholar]