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- W2142622012 abstract "Distal expression quantitative trait loci (distal eQTLs) are genetic mutations that affect the expression of genes genomically far away. However, the mechanisms that cause a distal eQTL to modulate gene expression are not yet clear. Recent high-resolution chromosome conformation capture experiments along with a growing database of eQTLs provide an opportunity to understand the spatial mechanisms influencing distal eQTL associations on a genome-wide scale. We test the hypothesis that spatial proximity contributes to eQTL-gene regulation in the context of the higher-order domain structure of chromatin as determined from recent Hi-C chromosome conformation experiments. This analysis suggests that the large-scale topology of chromatin is coupled with eQTL associations by providing evidence that eQTLs are in general spatially close to their target genes, occur often around topological domain boundaries and preferentially associate with genes across domains. We also find that within-domain eQTLs that overlap with regulatory elements such as promoters and enhancers are spatially more close than the overall set of within-domain eQTLs, suggesting that spatial proximity derived from the domain structure in chromatin plays an important role in the regulation of gene expression." @default.
- W2142622012 created "2016-06-24" @default.
- W2142622012 creator A5034451361 @default.
- W2142622012 creator A5058132020 @default.
- W2142622012 creator A5074759984 @default.
- W2142622012 date "2013-10-01" @default.
- W2142622012 modified "2023-10-16" @default.
- W2142622012 title "Higher-order chromatin domains link eQTLs with the expression of far-away genes" @default.
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- W2142622012 doi "https://doi.org/10.1093/nar/gkt857" @default.
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