Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation

@inproceedings{Birnbaum2014SystematicDO,
  title={Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation},
  author={Ramon Y. Birnbaum and Rupali P. Patwardhan and Mee Jin Kim and Gregory M. Findlay and Beth A Martin and Jingjing Zhao and Robert A. Bell and Robin P. Smith and Angel A. Ku and Jay Shendure and Nadav Ahituv and Michael Snyder},
  booktitle={PLoS genetics},
  year={2014}
}
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… CONTINUE READING