Article
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.
PLoS genetics - 1 Oct 2014
Birnbaum Ramon Y, Patwardhan Rupali P, Kim Mee J, Findlay Gregory M, Martin Beth, Zhao Jingjing, Bell Robert J A, Smith Robin P, Ku Angel A, Shendure Jay, Ahituv Nadav
Abstract excerpt
In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations is not well known. Here, using massively parallel reporter assays, we dissect the enhancer activity of three liver eExons (SORL1 exon 17, TRAF3IP2 exon 2, PPARG exon...
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