Article
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.
Human molecular genetics - 1 Nov 2002
Perrin-Vidoz Laure, Sinilnikova Olga M, Stoppa-Lyonnet Dominique, Lenoir Gilbert M, Mazoyer Sylvie
Abstract excerpt
Germline mutations in the BRCA1 gene are scattered over the 22 coding exons and most of them generate premature termination codons (PTCs). A mechanism called nonsense-mediated mRNA decay (NMD) is known to specifically degrade transcripts with PTCs; however, steady-state amounts of mutant BRCA1 mRNAs have very rarely been measured. Although growing evidence implicates downstream exon-exon junctions (EEJs) as...
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