Quantification analysis of splice signal sequences. Exon skipping in beta-globin gene of thalassemia.
Nucleotide sequences of human beta-globin and its mutant genes were analyzed by quantification method. In the mutant, a GT-->AT change occurs at the 5'-splice site of the second intron, causing skipping of the whole second exon during RNA splicing. A mechanism of exon skipping was proposed on the basis of the intensity of 3'-splice signal sequence.
Iida
Y
Y
Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.
D001483:Base Sequence; D004247:DNA; D005091:Exons; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012322:RNA Precursors / Q000235:genetics; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*
D012322:RNA Precursors; D012333:RNA, Messenger; D005914:Globins; D004247:DNA