Global analysis of A-to-I RNA editing reveals association with common disease variants

PeerJ

卷:6

Jason C. Kovacic¹  Chiara Giannarelli¹  Arno Ruusalepp²  Raili Ermel²  Josefin Skogsberg³  Katyayani Sukhavasi⁴  Anamika Jain⁴  Rajeev Jain⁴  Eric E. Schadt⁵  Ke Hao⁵  Christer Betsholtz⁶  Oscar Franzén⁶  Johan L.M. Björkegren⁶ 

[1] Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America;

[2] Department of Cardiac Surgery, Tartu University Hospital, Tartu, Estonia;

[3] Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Solna, Sweden;

[4] Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia;

[5] Institute of Genomics and Multiscale Biology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America;

[6] Integrated Cardio Metabolic Centre, Karolinska Institutet, Huddinge, Sweden;

关键词: RNA editing;    Gene expression;    Quantitative trait loci;    RNA-seq;    Bioinformatics;    Biostatistics;   

DOI  :  10.7717/peerj.4466

来源: DOAJ

【 摘 要 】

RNA editing modifies transcripts and may alter their regulation or function. In humans, the most common modification is adenosine to inosine (A-to-I). We examined the global characteristics of RNA editing in 4,301 human tissue samples. More than 1.6 million A-to-I edits were identified in 62% of all protein-coding transcripts. mRNA recoding was extremely rare; only 11 novel recoding sites were uncovered. Thirty single nucleotide polymorphisms from genome-wide association studies were associated with RNA editing; one that influences type 2 diabetes (rs2028299) was associated with editing in ARPIN. Twenty-five genes, including LRP11 and PLIN5, had editing sites that were associated with plasma lipid levels. Our findings provide new insights into the genetic regulation of RNA editing and establish a rich catalogue for further exploration of this process.

【 授权许可】

Unknown