Kirchner et al. 2017 (PRJNA299827)

General Details

Title Ribosomal profiling in Cystic Fibrosis Bronchial Epithelial cells
Organism
Number of Samples 3
Release Date 2015/10/26 00:00
Sequencing Types
Protocol Details

Study Links

Repository Details

SRA SRP065282
ENA SRP065282
GEO GSE74365
BioProject PRJNA299827

Publication

Title
Authors Kirchner S, Cai Z, Rauscher R, Kastelic N, Anding M, Czech A, Kleizen B, Ostedgaard LS, Braakman I, Sheppard DN, Ignatova Z
Journal PLoS biology
Publication Date 2017 May
Abstract Synonymous single nucleotide polymorphisms (sSNPs) are considered neutral for protein function, as by definition they exchange only codons, not amino acids. We identified an sSNP that modifies the local translation speed of the cystic fibrosis transmembrane conductance regulator (CFTR), leading to detrimental changes to protein stability and function. This sSNP introduces a codon pairing to a low-abundance tRNA that is particularly rare in human bronchial epithelia, but not in other human tissues, suggesting tissue-specific effects of this sSNP. Up-regulation of the tRNA cognate to the mutated codon counteracts the effects of the sSNP and rescues protein conformation and function. Our results highlight the wide-ranging impact of sSNPs, which invert the programmed local speed of mRNA translation and provide direct evidence for the central role of cellular tRNA levels in mediating the actions of sSNPs in a tissue-specific manner.
PMC PMC5433685
PMID 28510592
DOI
Run Accession Study Accession Scientific Name Cell Line Library Type Treatment GWIPS-viz Trips-Viz Reads BAM BigWig (F) BigWig (R)
SRR2818787 PRJNA299827 Homo sapiens CFBE Ribo-Seq Cycloheximide
SRR2818789 PRJNA299827 Homo sapiens CFBE Ribo-Seq Cycloheximide
SRR2818791 PRJNA299827 Homo sapiens CFBE Ribo-Seq Cycloheximide
Run Accession Study Accession Scientific Name Cell Line Library Type Treatment GWIPS-viz Trips-Viz Reads BAM BigWig (F) BigWig (R)

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