Open AccessJournal Article
Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
K P Menon,E F Neufeld +1 more
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TLDR
RT-PCR 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, indicating that the nonsense RNA was degraded to fragment(s), independent of the position of the mutation.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.read more
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Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.
Andresa Cardoso Grandini Almeida,Gabriela Pasqualim,Fabiana Quoos Mayer,Ida Schwartz,Carolina Fischinger Moura de Souza,Roberto Giugliani,Ursula da Silveira Matte +6 more
TL;DR: Standardization of sequencing from alpha-L-iduronidase gene cDNA molecules was standardized and validated this process for a group of patients whose mutations had been previously identified by DNA analysis.
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