Inactivation of an acceptor RNA splice site by a short deletion in β-thalassemia

S. H. Orkin, J. P. Sexton, S. C. Goff, H. H. Kazazian

Research output: Contribution to journalArticlepeer-review

Abstract

The cloned β-globin gene of an Indian patient with β-thalassemia revealed a 25-nucleotide deletion at the 3'-end of the first intervening sequence, including the acceptor RNA splicing site. RNA transcripts of this mutant gene produced following transfection into HeLa cells remained unspliced at both the first intervening sequence donor and acceptor sites. This β-thalassemic gene is the first in which critical sequences of an acceptor splice junction are mutated and associated with abnormal RNA processing.

Original languageEnglish (US)
Pages (from-to)7249-7251
Number of pages3
JournalJournal of Biological Chemistry
Volume258
Issue number12
StatePublished - 1983
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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