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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Dietz, Harry C., Valle, David, Francomano, Clair A., Kendzior, Raymond J., Pyeritz, Reed E., Cutting, Garry A.·1993·Science
DOI 10.1126/science.8430317
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Abstract

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.

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  • Altered reading frame and premature stop codon usually result in production of truncated protein and a reduction in mRNA abundance because misspliced RNAs are often unstable, and RNAs that harbor premature stop codons usually are degraded by cell-defense mechanisms.

    “An altered reading frame and a premature stop codon usually result in the production of truncated protein and a reduction in mRNA abundance (35, 36), because misspliced RNAs are often unstable, and RNAs that harbor premature stop codons usually are degraded by cell-defense mechanisms developed to preclude the formation of deleterious proteins (36).”

    From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [35]

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Authors
Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E., & Cutting, G. A.
Affiliations
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1993-01-29
Volume
259
Issue
5095
Pages
680-683
ISSN
  • 0036-8075
  • 1095-9203
DOI
10.1126/science.8430317
Cited by
289
References
0
Language
en

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