PMID: 11934436Apr 6, 2002Paper

Spontaneous frequency of exon skipping in the human HPRT gene

Mutation Research
A SkandalisL Newton

Abstract

In order to elucidate the mechanisms of mRNA splicing fidelity and the mutagenic potential of aberrant mis-spliced transcripts we have investigated the frequency of spontaneous exon skipping in the human hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene in well characterized human primary fibroblasts isolated from two different individuals. In these cells, coexisting with the WT species, we also detected three aberrant HPRT transcripts missing exon IV, VII, or VIII. We were unable to detect transcripts missing exon II, III, V, or VI. Significantly, all the exons affected by skipping do not generate new stop codons more than 50 nucleotides upstream from the 3' most exon-exon junction. Exon VIII was the most prone to skipping with a relative frequency to WT of 0.019+/-0.004 (approximately one aberrant transcript per 50 WT transcripts). Exon IV exhibited a relative frequency of skipping of 0.006+/-0.002 ((approximately one aberrant transcript per 150 WT transcripts) and exon VII exhibited a relative frequency of skipping of 0.003+/-0.002 ((approximately one aberrant transcript per 300 WT transcripts). These data demonstrate that aberrant transcripts with exon skipped are generated spontaneously in humans and some appear ...Continue Reading

References

Jun 1, 1993·Human Molecular Genetics·R A GibsonC G Mathew
Nov 1, 1995·Human Molecular Genetics·N P BhattacharyyaM Meuth
Jan 1, 1996·Annual Review of Biochemistry·A Krämer
Nov 7, 1998·Mutation Research·C R Valentine
Jan 6, 2001·RNA·A S Brodsky, P A Silver
Mar 7, 2001·Current Biology : CB·J Lykke-Andersen

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Citations

Aug 31, 2002·Nucleic Acids Research·Qiang XuChristopher Lee
Dec 7, 2007·Genome Génome / Conseil National De Recherches Canada·Kim Disher, Adonis Skandalis
Aug 20, 2010·RNA·Adonis SkandalisMiriam H Richards
Dec 5, 2006·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Masamichi Oh-Ishi, Tadakazu Maeda

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