The effect of genetic variation on promoter usage and enhancer activity
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01467-7
Abstract: The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding regulatory… read more here.
Keywords: enhancer activity; promoter usage; genetic variation; promoter ... See more keywords
NF-κB Signaling and IL-4 Signaling Regulate SATB1 Expression via Alternative Promoter Usage During Th2 Differentiation
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2019.00667
Abstract: SATB1 is a genome organizer protein that is expressed in a lineage specific manner in CD4+ T-cells. SATB1 plays a crucial role in expression of multiple genes throughout the thymic development and peripheral differentiation of… read more here.
Keywords: promoter usage; via alternative; expression; differentiation ... See more keywords
Genetic effects on promoter usage are highly context-specific and contribute to complex traits
Sign Up to like & getrecommendations! Published in 2019 at "eLife"
DOI: 10.7554/elife.41673
Abstract: Genetic variants regulating RNA splicing and transcript usage have been implicated in both common and rare diseases. Although transcript usage quantitative trait loci (tuQTLs) have been mapped across multiple cell types and contexts, it is… read more here.
Keywords: transcript usage; promoter usage; usage; complex traits ... See more keywords