Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.

ABSTRACT: 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 6) at single nucleotide resolution in the mouse liver. We find that both synonymous and non-synonymous mutations have similar effects on enhancer activity and many of the deleterious mutation clusters overlap known liver-associated transcription factor binding sites. Carrying a similar massively parallel reporter assay in HeLa cells with these three eExons found differences in thei

SUBMITTER: Birnbaum RY 

PROVIDER: S-EPMC4207465 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature