Quantification analysis of splice signal sequences: Mutation of 3'-splice signal sequence and mechanism of unsplicing in a -thalassemia pre-mRNA
Nucleic Acids Symposium Series1999Vol. 42(1), pp. 63–64
Abstract
Strength of splice signal sequence plays an important role in mammalian pre-mRNA splicings. In the splicing of human £-globin thalassemia pre-mRNA, a 25nucleotide 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 6 -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 qunatification 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.
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