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Chunk #48 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — RiboSNitches, structural variation and RNA regulation

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Genetic variants in mRNA untranslated regions.
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yes

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Several molecular biological techniques have been developed to interrogate RNA structure at single-nucleotide resolution, including SHAPE.86 This technique was applied to show that the correct FTL conformational structure can be restored by a group of SNPs in LD, namely a structure-stabilizing haplotype (SSH). This may explain some cases of strong LD between SNPs and also indicate a set of “causal SNPs”, rather than a single “causal mutation” for some phenotypes. Moreover, a comprehensive analysis of human genetic variation highlighted that SSHs are common in mRNA and they generally stabilize the RBP target sites.87