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A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

Authors
  • Treisman, R
  • Proudfoot, N J
  • Shander, M
  • Maniatis, T
Type
Published Article
Journal
Cell
Publisher
Elsevier
Publication Date
Jul 01, 1982
Volume
29
Issue
3
Pages
903–911
Identifiers
PMID: 7151176
Source
Medline
License
Unknown

Abstract

We have studied the structure and transcription of a cloned human beta-globin gene from a fetus diagnosed for beta 0 thalassemia. The sequence of the beta 0 gene differs from that of a normal beta-globin gene at positions 1 and 74 of the second intervening sequence (IVS2). The position 1 change alters the GT dinucleotide conserved at 5' splice sites, while the position 74 change is a common sequence polymorphism. When the cloned beta 0 gene is introduced into HeLa cells by use of an SV40-derived plasmid vector, two abnormally spliced cytoplasmic beta-globin RNAs are detected. The predominant RNA differs from normal beta-globin mRNA by the insertion of the first 47 nucleotides of IVS2 between exons 2 and 3. The less abundant RNA comprises the normal first exon spliced directly to the third. Analysis of nuclear RNA suggests that the beta 0 transcript is inefficiently spliced and that the removal of the two intervening sequences is coupled.

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