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Nucleic Acids Research, 1987, Vol. 15, No. 20 8195-8204
© 1987

Articles

Expression of a ß thalassemi gene with abnormal splicing

Claudine Lapoumeroulie, Santina Acuto1, Fatina Rouabhi2, Dominique Labie, Rajagopal Krishnamoorthy and Arthur Bank1,*

Institut National de la Sante et de la Recherche Medicale, Unite de Recherches en Patbologie Moleculaire (U.15), Faculte de Medecine Cochin Port-Royal Paris, France 1Columbia University, College of Physicians and Surgeons, Department of Medicine, and Department of Genetics and Development New York, NY, USA 2Centre National de Transfusion Sanguine Algiers, Algeria

*To whom correspondence should be addressed

Received August 12, 1987. Accepted September 9, 1987.

Expression of a cloned human ß thalassemia gene with a single base change at position 5 of TVS 1 has been analyzed 48 hours after transfer of the gene into Hela cells (transient expression). Little or no normal ß globin mRNA accumulates in the presence of the abnormal ß gene in contrast to significantly more normal ß mRNA produced with other mutations at this same position. By contrast, large amounts of an abnormal ß 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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