| | |  | | | | Record from Web of Science® | | | | | | |
| MAINTENANCE OF AN OPEN READING FRAME AS AN ADDITIONAL LEVEL OF SCRUTINY DURING SPLICE-SITE SELECTION |
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| Author(s): DIETZ HC, KENDZIOR RJ |
| Source: NATURE GENETICS Volume: 8 Issue: 2 Pages: 183-188 Published: OCT 1994 |
| Times Cited: 124 References: 39 |
| Abstract: Although nonsense mutations have been associated with the skipping of specific constitutively spliced exons in selected genes, notably the fibrillin gene, the basis for this association is unclear. Now, using chimaeric constructs in a model in vivo expression system, premature termination codons are identified as determinants of splice site selection. Nonsense codon recognition prior to RNA splicing necessitates the ability to read the frame of precursor mRNA in the nucleus. We propose that maintenance of an open reading frame can serve as an additional level of scrutiny during exon definition. This process may have pathogenic and evolutionary significance. |
| Document Type: Article |
| Language: English |
| Reprint Address: DIETZ, HC (reprint author), JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21205 USA
2. JOHNS HOPKINS UNIV, SCH MED, DEPT MOLEC BIOL & GENET, BALTIMORE, MD 21205 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PL123 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |