A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

• Published in: Human genomics Vol. 5; no. 4; pp. 241 - 264
• Main Authors: Hamby, Stephen E, Thomas, Nick ST, Cooper, David N, Chuzhanova, Nadia
• Format: Journal Article
• Language: English
• Published: England BioMed Central 01.05.2011; BioMed Central Ltd; BMC
• Subjects: 3' Untranslated Regions - genetics; 3'-untranslated region; Codon, Nonsense - genetics; Codon, Terminator - genetics; Genetic Diseases, Inborn - genetics; Genome, Human; human inherited disease; Humans; Mutation, Missense - genetics; nonstop mRNA decay; nonstop mutation; Open Reading Frames - genetics; Point Mutation - genetics; Primary Research; Protein Biosynthesis; stop codon

'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed a meta-analysis of the 119 nonstop mutation...