Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
A base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription.
D000328:Adult; D001483:Base Sequence; D003001:Cloning, Molecular; D004720:Endonucleases; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006367:HeLa Cells / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D009876:Operon; D011110:Polymorphism, Genetic; D015719:Single-Strand Specific DNA and RNA Endonucleases; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004720:Endonucleases; D015719:Single-Strand Specific DNA and RNA Endonucleases