Altered Gene Expression Associated with microRNA Binding Site Polymorphisms |
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| Authors: | Urmo V?sa T?nu Esko Silva Kasela Tarmo Annilo |
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| Institution: | 1. Estonian Genome Center, University of Tartu, Riia 23b, 51010 Tartu, Estonia.; 2. Division of Endocrinology, Children''s Hospital, Boston, MA, United States of America.; 3. Department of Genetics, Harvard Medical School, Boston, MA, United States of America.; 4. Broad Institute, Cambridge, MA, United States of America.; Roswell Park Cancer Institute, UNITED STATES, |
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| Abstract: | Allele-specific gene expression associated with genetic variation in regulatory regions can play an important role in the development of complex traits. We hypothesized that polymorphisms in microRNA (miRNA) response elements (MRE-SNPs) that either disrupt a miRNA binding site or create a new miRNA binding site can affect the allele-specific expression of target genes. By integrating public expression quantitative trait locus (eQTL) data, miRNA binding site predictions, small RNA sequencing, and Argonaute crosslinking immunoprecipitation (AGO-CLIP) datasets, we identified genetic variants that can affect gene expression by modulating miRNA binding efficiency. We also identified MRE-SNPs located in regions associated with complex traits, indicating possible causative mechanisms associated with these loci. The results of this study expand the current understanding of gene expression regulation and help to interpret the mechanisms underlying eQTL effects. |
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