anticodon and Thalassemia

A human tRNALys gene was converted to an amber suppressor by site-specific mutagenesis of the anticodon. The mutated tRNALys gene directed synthesis of a tRNA that suppressed the UAG amber nonsense mutation in beta O thalassemia mRNA. Such genes may be used to detect other nonsense mutations in mammalian cells and may provide an approach to gene therapy for beta O thalassaemia due to nonsense mutations.

Topics: Anticodon; Genes; Humans; Lysine; Mutation; Peptide Chain Termination, Translational; RNA, Transfer; Suppression, Genetic; Thalassemia; Transcription, Genetic