A mechanism for unsplicing and exon skipping in human alpha- and beta-globin mutant pre-mRNA splicing.
In both of normal human alpha- and beta-globin pre-mRNAs, two introns are spliced correctly, giving mRNA products of (exon 1)-(exon 2)-(exon 3). If 5'-splice site of the second intron is mutated, mRNA of the beta-globin is composed of (exon 1)-(exon 3), skipping the whole exon 2 sequence. However, if 5'-splice site of the second intron is mutated in the alpha-globin, mRNA is (exon 1)-(exon 2)-(intron 2)-(exon 3), unsplicing intron 2. In both of the alpha- and beta-globin pre-mRNAs, strengths of 3'-splice signals of the first and second introns were calculated by the quantification method reported previously, which explains a reason for exon skipping and unsplicing in terms of relative strengths of those signals.
Iida
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Department of Chemistry, Graduate School of Science, Hokkaido University, Sapporo, Japan.
D001483:Base Sequence; D005091:Exons; D005914:Globins / Q000096:biosynthesis* / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D012322:RNA Precursors / Q000378:metabolism*; D012326:RNA Splicing; D011993:Recombinant Fusion Proteins / Q000096:biosynthesis
D009838:Oligodeoxyribonucleotides; D012322:RNA Precursors; D011993:Recombinant Fusion Proteins; D005914:Globins