Article
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
The Journal of biological chemistry - 30 Jul 2004
Inácio Angela, Silva Ana Luísa, Pinto Joana, Ji Xinjun, Morgado Ana, Almeida Fátima, Faustino Paula, Lavinha João, Liebhaber Stephen A, Romão Luísa
Abstract excerpt
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction. We have described a set of naturally occurring human beta-globin gene mutations that apparently contradict this...
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