A whole-genome analysis of premature termination codons

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We sequenced the genomes of ten unrelated individuals and identified heterozygous stop codon-gain variants in protein-coding genes: we then sequenced their transcriptomes and assessed the expression levels of the stop codon-gain alleles. An ANOVA showed statistically significant differences between their expression levels (p=4×10 -16). This difference was almost entirely accounted for by whether the stop codon-gain variant had a second, non-protein-truncating function in or near an alternate transcript: stop codon-gains without alternate functions were generally not found in the cDNA (p=3×10 -5). Additionally, stop codon-gain variants in two intronless genes were not expressed, an unexpected outcome given previous studies. In this study, stop codon-gain variants were either well expressed in all individuals or were never expressed. Our finding that stop codon-gain variants were generally expressed only when they had an alternate function suggests that most naturally occurring stop codon-gain variants in protein-coding genes are either not transcribed or have their transcripts destroyed. © 2011 Elsevier Inc.




Cirulli, E. T., Heinzen, E. L., Dietrich, F. S., Shianna, K. V., Singh, A., Maia, J. M., … Goldstein, D. B. (2011). A whole-genome analysis of premature termination codons. Genomics, 98(5), 337–342. https://doi.org/10.1016/j.ygeno.2011.07.001

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