Genome-wide search for exonic variants affecting translational efficiency
作者： Quan Li , Angeliki Makri , Yang Lu , Luc Marchand , Rosemarie Grabs
DOI: 10.1038/NCOMMS3260
关键词:
摘要: The search for expression quantitative trait loci (eQTL) has traditionally centered entirely on the process of transcription, whereas variants with effects mRNA translation have not been systematically studied. Here we present a high throughput approach measuring translational cis-regulation in human genome. Using ribosomal association as proxy efficiency polymorphic mRNAs, test ratio polysomal/nonpolysomal level single-nucleotide polymorphisms same transcript. We identify one important ribosomal-distribution effect, from rs1131017 5’UTR RPS26 , that is linkage disequilibrium (LD) 12q13 locus susceptibility to type 1 diabetes. effect confirmed at protein by Western blots, both ex vivo and after vitro translation. Our results are proof-of-principle allelic can be detected transcriptome-wide scale.
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