| EVIDENCE FOR DEGRADATION OF MESSENGER-RNA ENCODING ALPHA-L-IDURONIDASE IN HURLER FIBROBLAST WITH PREMATURE TERMINATION ALLELES |
|
|
| Author(s): MENON KP, NEUFELD EF |
| Source: CELLULAR AND MOLECULAR BIOLOGY Volume: 40 Issue: 7 Pages: 999-1005 Published: NOV 1994 |
| Times Cited: 29 References: 39 |
| Abstract: Mutations in the gene encoding alpha-L-iduronidase (IDUA) are the cause of Hurler syndrome. Fibroblasts from patients homozygous for nonsense IDUA alleles have much reduced mRNA detectable by Northern analysis, as has been observed in many other instances of premature translation termination. Yet RT-PCR (reverse transcription followed by PCR amplification) showed a normal level of a segment covering exons 1 and 2 in Hurler cells homozygous for alleles bearing the nonsense mutations, Q70X or W402X. The 3' end of the segment was between exons 2 and 4. The results indicate that the nonsense RNA was degraded to fragment(s), independent of the position of the mutation (exon 2 or exon 9, respectively). Treatment of the cells with cycloheximide resulted in some increase of intact mRNA, suggesting that translation is required for mRNA degradation. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF LOS ANGELES, SCH MED, DEPT BIOL CHEM, LOS ANGELES, CA 90024 USA |
| Publisher: CELLULAR & MOLECULAR BIOLOGY, PROF R WEGMANN RESIDENCE HAUSSMANN 1 AVENUE DU PAVE NEUF, 93160 NOISY-LE-GRAND, FRANCE |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: PN628 |
| ISSN: 0145-5680 |