title: Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
abstract: Transcriptional analysis of five different cloned beta-thalassaemia genes introduced into cultured mammalian cells revealed specific defects in transcription and RNA splicing. A single base change 87 base pairs to the 5' side of the mRNA cap site significantly lowers the level of transcription and therefore appears to represent a promoter mutation. Three genes contain different single base changes in the first intervening sequence (IVS) 5' splice site. One mutation, at IVS1 position 1, inactivates the splice site completely; the other two, at IVS1 positions 5 and 6, reduce its activity. Each mutation activates the same three cryptic splice sites. The fifth gene contains a single base change within IVS2 at position 745, which results in the formation of abnormal beta-globin RNA that contains an extra exon.
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000235:genetics; D006801:Humans; D009154:Mutation; D009876:Operon; D012313:RNA / Q000235:genetics*; D012315:RNA Caps / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D012315:RNA Caps; D012313:RNA; D005914:Globins; D004262:DNA Restriction Enzymes