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
Global discovery of lupus genetic risk variant allelic enhancer activity
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-21854-5
Abstract: Genome-wide association studies of Systemic Lupus Erythematosus (SLE) nominate 3073 genetic variants at 91 risk loci. To systematically screen these variants for allelic transcriptional enhancer activity, we construct a massively parallel reporter assay (MPRA) library… read more here.
Keywords: allelic enhancer; risk loci; enhancer activity; risk ... See more keywords
Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-15153-7
Abstract: The multifunctional Eya1 protein plays important roles during the development of cranial sensory organs and ganglia, kidneys, hypaxial muscles and several other organs in vertebrates. Eya1 is encoded by a complex locus with candidate cis-regulatory… read more here.
Keywords: xenopus; bac recombineering; xenopus laevis; enhancer activity ... See more keywords
The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-κB
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-82735-x
Abstract: Transposable elements (TEs) are DNA sequences that cut or introduced into the genome, and they represent a massive portion of the human genome. TEs generate a considerable number of microRNAs (miRNAs) are derived from TEs… read more here.
Keywords: long interspersed; enhancer activity; binding sites; mirna 625 ... See more keywords
Evolved Bmp6 enhancer alleles drive spatial shifts in gene expression during tooth development in sticklebacks
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DOI: 10.1093/genetics/iyab151
Abstract: Mutations in enhancers have been shown to often underlie natural variation but the evolved differences in enhancer activity can be difficult to identify in vivo. Threespine sticklebacks (Gasterosteus aculeatus) are a robust system for studying… read more here.
Keywords: spatial shifts; enhancer activity; expression; gene ... See more keywords
Functional characterization of enhancer activity during a long terminal repeat's evolution
Sign Up to like & getrecommendations! Published in 2022 at "Genome Research"
DOI: 10.1101/gr.276863.122
Abstract: Many transposable elements (TEs) contain transcription factor binding sites and are implicated as potential regulatory elements. However, TEs are rarely functionally tested for regulatory activity, which in turn limits our understanding of how TE regulatory… read more here.
Keywords: regulatory activity; functional characterization; activity; enhancer activity ... See more keywords
The activity of human enhancers is modulated by the splicing of their associated lncRNAs
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1009722
Abstract: Pervasive enhancer transcription is at the origin of more than half of all long noncoding RNAs in humans. Transcription of enhancer-associated long noncoding RNAs (elncRNA) contribute to their cognate enhancer activity and gene expression regulation… read more here.
Keywords: elncrna splicing; enhancer; activity; human enhancers ... See more keywords