Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit beta-globin gene
- PMID: 6296682
- DOI: 10.1038/301038a0
Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit beta-globin gene
Abstract
Only one of six point mutations of the sequence around one end of the larger of the introns of the rabbit beta-globin gene seriously affects the normal removal of the intron and splicing of the gene. That mutation converts a GT sequence, invariably found at the 5' end of introns, into an AT, which is no longer recognized as a signal for intron removal. Instead, three normally unused (cryptic) sites are used, leading to aberrant gene transcripts. One of the cryptic sites is an exception to the invariable GT sequence.
Similar articles
-
Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.Nucleic Acids Res. 1985 Feb 11;13(3):777-90. doi: 10.1093/nar/13.3.777. Nucleic Acids Res. 1985. PMID: 2987809 Free PMC article.
-
Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.Cell. 1981 Dec;27(2 Pt 1):289-98. doi: 10.1016/0092-8674(81)90412-8. Cell. 1981. PMID: 6895866
-
Cryptic splicing sites are differentially utilized in vivo.FEBS J. 2008 Mar;275(6):1150-62. doi: 10.1111/j.1742-4658.2008.06276.x. Epub 2008 Feb 6. FEBS J. 2008. PMID: 18266765
-
Regulation of human globin gene expression.Prog Clin Biol Res. 1985;191:269-80. Prog Clin Biol Res. 1985. PMID: 2996022 Review. No abstract available.
-
Studies on messenger RNA 3' end formation in globin genes: a transcriptional interference model for globin gene switching.Prog Clin Biol Res. 1985;191:49-65. Prog Clin Biol Res. 1985. PMID: 2413484 Review. No abstract available.
Cited by
-
Activation of a cryptic pathway for threonine metabolism via specific IS3-mediated alteration of promoter structure in Escherichia coli.J Bacteriol. 1989 Oct;171(10):5503-11. doi: 10.1128/jb.171.10.5503-5511.1989. J Bacteriol. 1989. PMID: 2551888 Free PMC article.
-
Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.Nucleic Acids Res. 1991 Nov 25;19(22):6301-8. doi: 10.1093/nar/19.22.6301. Nucleic Acids Res. 1991. PMID: 1956789 Free PMC article.
-
Exon mutations that affect the choice of splice sites used in processing the SV40 late transcripts.Nucleic Acids Res. 1985 Aug 12;13(15):5591-609. doi: 10.1093/nar/13.15.5591. Nucleic Acids Res. 1985. PMID: 2994004 Free PMC article.
-
Splicing modulation therapy in the treatment of genetic diseases.Appl Clin Genet. 2014 Dec 4;7:245-52. doi: 10.2147/TACG.S71506. eCollection 2014. Appl Clin Genet. 2014. PMID: 25506237 Free PMC article. Review.
-
Pick one, but be quick: 5' splice sites and the problems of too many choices.Genes Dev. 2013 Jan 15;27(2):129-44. doi: 10.1101/gad.209759.112. Genes Dev. 2013. PMID: 23348838 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous