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Wiley Interdiscip Rev RNA. 2015 Sep-Oct;6(5):517-32. doi: 10.1002/wrna.1291. Epub 2015 Jun 26.

The potential of the riboSNitch in personalized medicine.

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Department of Biology, University of North Carolina, Chapel Hill, NC, USA.
Institute for Genomic Medicine, Columbia University, New York, NY, USA.
Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC, USA.
Bioinformatics and Computational Biology Program, University of North Carolina, Chapel Hill, NC, USA.


RNA conformation plays a significant role in stability, ligand binding, transcription, and translation. Single nucleotide variants (SNVs) have the potential to disrupt specific structural elements because RNA folds in a sequence-specific manner. A riboSNitch is an element of RNA structure with a specific function that is disrupted by an SNV or a single nucleotide polymorphism (SNP; or polymorphism; SNVs occur with low frequency in the population, <1%). The riboSNitch is analogous to a riboswitch, where binding of a small molecule rather than mutation alters the structure of the RNA to control gene regulation. RiboSNitches are particularly relevant to interpreting the results of genome-wide association studies (GWAS). Often GWAS identify SNPs associated with a phenotype mapping to noncoding regions of the genome. Because a majority of the human genome is transcribed, significant subsets of GWAS SNPs are putative riboSNitches. The extent to which the transcriptome is tolerant of SNP-induced structure change is still poorly understood. Recent advances in ultra high-throughput structure probing begin to reveal the structural complexities of mutation-induced structure change. This review summarizes our current understanding of SNV and SNP-induced structure change in the human transcriptome and discusses the importance of riboSNitch discovery in interpreting GWAS results and massive sequencing projects.

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