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Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia.
J Theor Biol. 1990 Aug 23; 145(4):523-33.JT

Abstract

Concerning the signals which direct excision of introns from mRNA precursors in higher eukaryotic genes, consensus 9-nucleotide sequence, (CA)AG/GT(AG)AGT, has been proposed with the 5'-splice site, but actual 5'-splice site sequences differ from it in a greater or lesser degree. We analyzed 5'-splice site sequence of human beta-globin gene by quantification method (categorical discriminant analysis) proposed previously. Analysis of 13-nucleotide sequences and deleted sequences showed that 9-nucleotide sequences in the consensus region are almost sufficient to define 5'-splice signal. To confirm this view, we examined a number of beta-globin mutant genes, where nucleotide changes occur at the authentic 5'-splice site of the first intron and cause beta-thalassemia phenotype. Our method could explain why such mutations abolish the 5'-splice site and cryptic 5'-splice sites are activated.

Authors+Show Affiliations

Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2246900

Citation

Iida, Y. "Quantification Analysis of 5'-splice Signal Sequences in mRNA Precursors. Mutations in 5'-splice Signal Sequence of Human Beta-globin Gene and Beta-thalassemia." Journal of Theoretical Biology, vol. 145, no. 4, 1990, pp. 523-33.
Iida Y. Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia. J Theor Biol. 1990;145(4):523-33.
Iida, Y. (1990). Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia. Journal of Theoretical Biology, 145(4), 523-33.
Iida Y. Quantification Analysis of 5'-splice Signal Sequences in mRNA Precursors. Mutations in 5'-splice Signal Sequence of Human Beta-globin Gene and Beta-thalassemia. J Theor Biol. 1990 Aug 23;145(4):523-33. PubMed PMID: 2246900.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Quantification analysis of 5'-splice signal sequences in mRNA precursors. Mutations in 5'-splice signal sequence of human beta-globin gene and beta-thalassemia. A1 - Iida,Y, PY - 1990/8/23/pubmed PY - 1990/8/23/medline PY - 1990/8/23/entrez SP - 523 EP - 33 JF - Journal of theoretical biology JO - J Theor Biol VL - 145 IS - 4 N2 - Concerning the signals which direct excision of introns from mRNA precursors in higher eukaryotic genes, consensus 9-nucleotide sequence, (CA)AG/GT(AG)AGT, has been proposed with the 5'-splice site, but actual 5'-splice site sequences differ from it in a greater or lesser degree. We analyzed 5'-splice site sequence of human beta-globin gene by quantification method (categorical discriminant analysis) proposed previously. Analysis of 13-nucleotide sequences and deleted sequences showed that 9-nucleotide sequences in the consensus region are almost sufficient to define 5'-splice signal. To confirm this view, we examined a number of beta-globin mutant genes, where nucleotide changes occur at the authentic 5'-splice site of the first intron and cause beta-thalassemia phenotype. Our method could explain why such mutations abolish the 5'-splice site and cryptic 5'-splice sites are activated. SN - 0022-5193 UR - https://www.unboundmedicine.com/medline/citation/2246900/Quantification_analysis_of_5'_splice_signal_sequences_in_mRNA_precursors__Mutations_in_5'_splice_signal_sequence_of_human_beta_globin_gene_and_beta_thalassemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-5193(05)80486-2 DB - PRIME DP - Unbound Medicine ER -