Li, Lei; Huang, Kai-Lieh; Gao, Yipeng; Cui, Ya; Wang, Gao; Elrod, Nathan D.; Li, Yumei; Chen, Yiling Elaine; Ji, Ping; Peng, Fanglue; Russell, William K.; Wagner, Eric J.; Li, Wei published the artcile< An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability>, SDS of cas: 58-97-9, the main research area is human alternative polyadenylation QTL linkage mapping disease heritability.
Genome-wide association studies have identified thousands of noncoding variants associated with human traits and diseases. However, the functional interpretation of these variants is a major challenge. Here, we constructed a multi-tissue atlas of human 3’UTR alternative polyadenylation (APA) quant. trait loci (3’aQTLs), containing approx. 0.4 million common genetic variants associated with the APA of target genes, identified in 46 tissues isolated from 467 individuals (Genotype-Tissue Expression Project). Mechanistically, 3’aQTLs can alter poly(A) motifs, RNA secondary structure and RNA-binding protein-binding sites, leading to thousands of APA changes. Our CRISPR-based experiments indicate that such 3’aQTLs can alter APA regulation. Furthermore, we demonstrate that mapping 3’aQTLs can identify APA regulators, such as La-related protein 4. Finally, 3’aQTLs are colocalized with approx. 16.1% of trait-associated variants and are largely distinct from other QTLs, such as expression QTLs. Together, our findings show that 3’aQTLs contribute substantially to the mol. mechanisms underlying human complex traits and diseases.
Nature Geneticspublished new progress about 3′-Untranslated region Role: BSU (Biological Study, Unclassified), PRP (Properties), BIOL (Biological Study). 58-97-9 belongs to class tetrahydrofurans, and the molecular formula is C9H13N2O9P, SDS of cas: 58-97-9.
Referemce:
Tetrahydrofuran – Wikipedia,
Tetrahydrofuran | (CH2)3CH2O – PubChem