A whole-genome analysis of premature termination codons.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Cirulli, ET; Heinzen, EL; Dietrich, FS; Shianna, KV; Singh, A; Maia, JM; Goedert, JJ; Goldstein, DB

Published Date

  • November 2011

Published In

Volume / Issue

  • 98 / 5

Start / End Page

  • 337 - 342

PubMed ID

  • 21803148

Pubmed Central ID

  • PMC3282586

Electronic International Standard Serial Number (EISSN)

  • 1089-8646

Digital Object Identifier (DOI)

  • 10.1016/j.ygeno.2011.07.001


  • eng

Conference Location

  • United States