title: Expression of a beta thalassemia gene with abnormal splicing.
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.
authors: Institut National de la Sante et de la Recherche Medicale, Faculte de Medecine Cochin Port-Royal, Paris, France.
authors: C
authors: C
authors: Lapoumeroulie
authors: S
authors: S
authors: Acuto
authors: F
authors: F
authors: Rouabhi
authors: D
authors: D
authors: Labie
authors: R
authors: R
authors: Krishnamoorthy
authors: A
authors: A
authors: Bank
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D004274:DNA, Recombinant; D005091:Exons; D005796:Genes; D005914:Globins / Q000235:genetics*; D006367:HeLa Cells / Q000378:metabolism; D006441:Hemoglobin A / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D004274:DNA, Recombinant; D012333:RNA, Messenger; D005914:Globins; D006441:Hemoglobin A