The skipping of constitutive exons in vivo induced by nonsense mutations

Harry C. Dietz, David Valle, Clair A. Francomano, Raymond J. Kendzior, Reed E. Pyeritz, Garry R. Cutting

Research output: Contribution to journalArticlepeer-review

350 Scopus citations


Nonsense mutations create a premature signal for the termination of translation of messenger RNA. Such mutations have been observed to cause a severe reduction in the amount of mutant allele transcript or to generate a peptide truncated at the carboxyl end. Analysis of fibrillin transcript from a patient with Marfan syndrome revealed the skipping of a constitutive exon containing a nonsense mutation. Similar results were observed for two nonsense mutations in the gene encoding ornithine δ-aminotransferase from patients with gyrate atrophy. All genomic DNA sequences flanking these exons that are known to influence RNA splicing were unaltered, which suggests that nonsense mutations can alter splice site selection in vivo.

Original languageEnglish (US)
Pages (from-to)680-683
Number of pages4
Issue number5095
StatePublished - Jan 29 1993

ASJC Scopus subject areas

  • General


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