The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

• Published in: Human molecular genetics Vol. 11; no. 23; pp. 2805 - 2814
• Main Authors: Perrin-Vidoz, Laure, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Lenoir, Gilbert M., Mazoyer, Sylvie
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.11.2002; Oxford Publishing Limited (England)
• Subjects: Amino Acid Substitution - genetics; Biological and medical sciences; BRCA1 Protein - genetics; Case-Control Studies; Cells, Cultured; Codon, Nonsense - genetics; Codon, Terminator; Exons - genetics; Family; Female; Female genital diseases; Gynecology. Andrology. Obstetrics; Humans; Mammary gland diseases; Medical sciences; Mutation, Missense - genetics; Open Reading Frames - genetics; Phenotype; Polymorphism, Genetic; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - metabolism; Transcription, Genetic; Tumors; Human; Cell culture; Family study; Malignant tumor; Gene expression; Degradation; Ovary; Messenger RNA; Breast; Genetics; Mutation; Molecular biology; Lymphoblastoid cell

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...