The potential of the riboSNitch in personalized medicine

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 sp...

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Main Authors:	Solem, Amanda C., Halvorsen, Matthew, Ramos, Silvia B. V., Laederach, Alain
Format:	Online
Language:	English
Published:	John Wiley & Sons, Inc. 2015
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543445/

id	pubmed-4543445
recordtype	oai_dc
spelling	pubmed-45434452016-02-25 The potential of the riboSNitch in personalized medicine Solem, Amanda C. Halvorsen, Matthew Ramos, Silvia B. V. Laederach, Alain Advanced Reviews 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. WIREs RNA 2015, 6:517–532. doi: 10.1002/wrna.1291 John Wiley & Sons, Inc. 2015-06-26 2015-09 /pmc/articles/PMC4543445/ /pubmed/26115028 http://dx.doi.org/10.1002/wrna.1291 Text en © 2015 The Authors. WIREs RNA published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Solem, Amanda C. Halvorsen, Matthew Ramos, Silvia B. V. Laederach, Alain
spellingShingle	Solem, Amanda C. Halvorsen, Matthew Ramos, Silvia B. V. Laederach, Alain The potential of the riboSNitch in personalized medicine
author_facet	Solem, Amanda C. Halvorsen, Matthew Ramos, Silvia B. V. Laederach, Alain
author_sort	Solem, Amanda C.
title	The potential of the riboSNitch in personalized medicine
title_short	The potential of the riboSNitch in personalized medicine
title_full	The potential of the riboSNitch in personalized medicine
title_fullStr	The potential of the riboSNitch in personalized medicine
title_full_unstemmed	The potential of the riboSNitch in personalized medicine
title_sort	potential of the ribosnitch in personalized medicine
description	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. WIREs RNA 2015, 6:517–532. doi: 10.1002/wrna.1291
publisher	John Wiley & Sons, Inc.
publishDate	2015
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543445/
_version_	1613261846859481088

The potential of the riboSNitch in personalized medicine

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