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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+Show Affiliations

Department of Chemistry, Graduate School of Science, Hokkaido University, Sapporo, Japan.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10780380

Citation

Iida, Y. "Quantification Analysis of Splice Signal Sequences: Mutation of 3'-splice Signal Sequence and Mechanism of Unsplicing in a Beta-thalassemia Pre-mRNA." Nucleic Acids Symposium Series, 1999, pp. 63-4.
Iida Y. Quantification analysis of splice signal sequences: mutation of 3'-splice signal sequence and mechanism of unsplicing in a beta-thalassemia pre-mRNA. Nucleic Acids Symp Ser. 1999.
Iida, Y. (1999). Quantification analysis of splice signal sequences: mutation of 3'-splice signal sequence and mechanism of unsplicing in a beta-thalassemia pre-mRNA. Nucleic Acids Symposium Series, (42), 63-4.
Iida Y. Quantification Analysis of Splice Signal Sequences: Mutation of 3'-splice Signal Sequence and Mechanism of Unsplicing in a Beta-thalassemia Pre-mRNA. Nucleic Acids Symp Ser. 1999;(42)63-4. PubMed PMID: 10780380.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Quantification analysis of splice signal sequences: mutation of 3'-splice signal sequence and mechanism of unsplicing in a beta-thalassemia pre-mRNA. A1 - Iida,Y, PY - 2000/4/26/pubmed PY - 2000/7/6/medline PY - 2000/4/26/entrez SP - 63 EP - 4 JF - Nucleic acids symposium series JO - Nucleic Acids Symp Ser IS - 42 N2 - 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. SN - 0261-3166 UR - https://www.unboundmedicine.com/medline/citation/10780380/Quantification_analysis_of_splice_signal_sequences:_mutation_of_3'_splice_signal_sequence_and_mechanism_of_unsplicing_in_a_beta_thalassemia_pre_mRNA_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -