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. 1987 Oct 26;15(20):8195–8204. doi: 10.1093/nar/15.20.8195

Expression of a beta thalassemia gene with abnormal splicing.

C Lapoumeroulie 1, S Acuto 1, F Rouabhi 1, D Labie 1, R Krishnamoorthy 1, A Bank 1
PMCID: PMC306353  PMID: 3671081

Abstract

Expression of a cloned human beta thalassemia gene with a single base change at position 5 of IVS 1 has been analyzed 48 hours after transfer of the gene into HeLa cells (transient expression). Little or no normal beta globin mRNA accumulates in the presence of the abnormal beta gene in contrast to significantly more normal beta mRNA produced with other mutations at this same position. By contrast, large amounts of an abnormal beta globin mRNA are present; this is due to the use of a cryptic 5' splice site in exon 1 rather than the normal 5' splice site of IVS 1. The results indicate the variability of the effect on RNA splicing of different single base defects within IVS.

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Selected References

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

  1. Atweh G. F., Wong C., Reed R., Antonarakis S. E., Zhu D., Ghosh P. K., Maniatis T., Forget B. G., Kazazian H. H., Jr A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. Blood. 1987 Jul;70(1):147–151. [PubMed] [Google Scholar]
  2. Cossu G., Manca M., Pirastru M. G., Bullitta R., Bosisio A. B., Gianazza E., Righetti P. G. Neonatal screening of beta-thalassemias by thin layer isoelectric focusing. Am J Hematol. 1982 Sep;13(2):149–157. doi: 10.1002/ajh.2830130207. [DOI] [PubMed] [Google Scholar]
  3. Dobkin C., Bank A. Reversibility of IVS 2 missplicing in a mutant human beta-globin gene. J Biol Chem. 1985 Dec 25;260(30):16332–16337. [PubMed] [Google Scholar]
  4. Glisin V., Crkvenjakov R., Byus C. Ribonucleic acid isolated by cesium chloride centrifugation. Biochemistry. 1974 Jun 4;13(12):2633–2637. doi: 10.1021/bi00709a025. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Melton D. A., Krieg P. A., Rebagliati M. R., Maniatis T., Zinn K., Green M. R. Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter. Nucleic Acids Res. 1984 Sep 25;12(18):7035–7056. doi: 10.1093/nar/12.18.7035. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. Myers R. M., Tjian R. Construction and analysis of simian virus 40 origins defective in tumor antigen binding and DNA replication. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6491–6495. doi: 10.1073/pnas.77.11.6491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Treisman R., Orkin S. H., Maniatis T. Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. Nature. 1983 Apr 14;302(5909):591–596. doi: 10.1038/302591a0. [DOI] [PubMed] [Google Scholar]

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