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  • Title: "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.
    Author: Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW.
    Journal: Proc Natl Acad Sci U S A; 1983 Apr; 80(8):2318-22. PubMed ID: 6572978.
    Abstract:
    A beta+-thalassemia globin gene was isolated from the genome of a Black individual by molecular cloning. DNA sequence analysis revealed only a single difference between this gene and the normal human beta-globin gene--adenine is substituted for thymine in the third position of codon 24. Codon 24 in both the normal gene (GGT) and the beta+-thalassemia gene (GGA) encodes glycine. The function of this beta+-thalassemia gene was compared to the function of the normal human beta-globin gene in monkey kidney cells by using plasmid expression vectors. The codon 24 substitution activates a 5' splice site that involves the guanine-thymine dinucleotide present in codon 25, 16 nucleotides upstream from the normal exon 1-intron I boundary. The splice, involving the abnormal 5' site in codon 25, is completed with the normal 3' splice site at the end of intron I. This splicing abnormality leads to a 75% decrease in the accumulation of normally processed beta-globin mRNA, thereby causing the beta+-thalassemia phenotype.
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