Study

Analysis of translatome, truncating mutations, lncRNA, circRNA and microproteins of 80 human DCM cases and controls

Study ID Alternative Stable ID Type
EGAS00001003263 Other

Study Description

The regulation of gene expression in healthy and diseased human tissues is incompletely understood and has primarily been studied on the transcriptional level. Here, we quantify the impact of translation on gene expression and annotate novel translational events in 80 human hearts. These include 65 tissues from patients with dilated cardiomyopathy (DCM) - the most common cause of heart transplantation – and 15 unaffected controls. We show that translational regulation modulates disease-associated molecular processes. Further, we evaluate ribosome dynamics at protein truncating variants revealing incomplete termination of translation at titin-truncating variants (TTNtv) that commonly cause DCM. Finally, we identify dozens of unknown microproteins translated from lncRNAs and circRNAs and link these to mitochondrial processes. Several microproteins are expressed from lncRNAs with previously demonstrated function, suggesting a dual coding and noncoding role. This resource will stimulate novel functional investigations into cardiac biology in health and disease and may serve as a ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001004394
Dataset consists of fastq files of Ribo-seq, polyA-RNA and total RNA sequencing of 80 samples (65 DCM cases and 15 controls)
Illumina HiSeq 2500,Illumina HiSeq 4000 80

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