| | |  | | | | Record from Web of Science® | | | | | | |
| THE SKIPPING OF CONSTITUTIVE EXONS INVIVO INDUCED BY NONSENSE MUTATIONS |
|
|
| Author(s): DIETZ HC, VALLE D, FRANCOMANO CA, KENDZIOR RJ, PYERITZ RE, CUTTING GR |
| Source: SCIENCE Volume: 259 Issue: 5095 Pages: 680-683 Published: JAN 29 1993 |
| Times Cited: 372 References: 32 |
| 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 delta-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 after splice site selection in vivo. |
| Document Type: Article |
| Language: English |
| Reprint Address: DIETZ, HC (reprint author), JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, HOWARD HUGHES MED INST, BALTIMORE, MD 21205 USA |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21205 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: KJ688 |
| ISSN: 0036-8075 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |