title: Quantification analysis of splice signal sequences: mutation of 3'-splice signal sequence and mechanism of unsplicing in a beta-thalassemia pre-mRNA.
abstract: Strength of splice signal sequence plays an important role in mammalian pre-mRNA splicings. In the splicing of human beta-globin thalassemia pre-mRNA, a 25-nucleotide deletion covering the signal sequence at 3'-splice site of intron 1 causes unsplicing of intron 1, while splicing of intron 2 occurs normally. This gives abnormal mRNA and beta-thalassemia disease. If 3'-splice site of intron 1 is inactivated, two 5'-splice signals of introns 1 and 2 compete with each other for the 3'-splice site of intron 2. Our quantification analysis revealed that the 5'-splice signal of intron 2 is stronger than that of intron 1, explaining the mechanism for unsplicing of intron 1.
authors.affiliation: Department of Chemistry, Graduate School of Science, Hokkaido University, Sapporo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Iida
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns; D012322:RNA Precursors / Q000235:genetics* / Q000378:metabolism; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics*; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D012322:RNA Precursors; D012333:RNA, Messenger; D005914:Globins