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Arrhythmogenic cardiomyopathy is a heritable heart disease associated with desmosomal mutations, especially premature termination codon (PTC) variants. It is known that PTC triggers the nonsense-mediated decay (NMD) mechanism. It is also accepted that PTC in the last exon escapes NMD; however, the mechanisms involving NMD escaping in 5′-PTC, such as reinitiation of translation, are less known. The main objective of the present study is to evaluate the likelihood that desmosomal genes carrying 5′-PTC will trigger reinitiation. HL1 cell lines were edited by CRISPR/Cas9 to generate isogenic clones carrying 5′-PTC for each of the five desmosomal genes. The genomic context of the ATG in-frame in the 5′ region of desmosomal genes was evaluated by in silico predictions. The expression levels of the edited genes were assessed by Western blot and real-time PCR. Our results indicate that the 5′-PTC in PKP2, DSG2 and DSC2 acts as a null allele with no expression, whereas in the DSP and JUP gene, N-truncated protein is expressed. In concordance with this, the genomic context of the 5′-region of DSP and JUP presents an ATG in-frame with an optimal context for the reinitiation of translation. Thus, 5′-PTC triggers NMD in the PKP2, DSG2* and DSC2 genes, whereas it may escape NMD through the reinitiation of the translation in DSP and JUP genes, with no major effects on ACM-related gene expression.
Desmocollins, Miocard -- Malalties, Desmoglein 2, Myocardium -- Diseases, Heart -- Diseases, arrhythmogenic cardiomyopathy (ACM); CRISPR; genetics; desmosomal genes; HL1; premature termination codon (PTC); nonsense mediated decay (NMD); alternative translation initiation (ATLI), Article, Cell Line, Nonsense Mediated mRNA Decay, Mice, Desmoplakins, Cor -- Malalties, Codon, Nonsense, Protein Biosynthesis, Animals, Malalties congènites, gamma Catenin, CRISPR-Cas Systems, Frameshift Mutation, Genetic disorders, Plakophilins
Desmocollins, Miocard -- Malalties, Desmoglein 2, Myocardium -- Diseases, Heart -- Diseases, arrhythmogenic cardiomyopathy (ACM); CRISPR; genetics; desmosomal genes; HL1; premature termination codon (PTC); nonsense mediated decay (NMD); alternative translation initiation (ATLI), Article, Cell Line, Nonsense Mediated mRNA Decay, Mice, Desmoplakins, Cor -- Malalties, Codon, Nonsense, Protein Biosynthesis, Animals, Malalties congènites, gamma Catenin, CRISPR-Cas Systems, Frameshift Mutation, Genetic disorders, Plakophilins
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