J Biol Chem. 1983 Jun 25;258(12):7249-51.

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

Orkin SH, Sexton JP, Goff SC, Kazazian HH Jr.

Abstract

The cloned beta-globin gene of an Indian patient with beta-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 beta-thalassemic gene is the first in which critical sequences of an acceptor splice junction are mutated and associated with abnormal RNA processing.

PMID:: 6190800; [PubMed - indexed for MEDLINE]

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