Alladi Ramakrishnan Hall

“Junk DNA” - its role in transcription regulation in normal and diseased tissues

Vasavi Sundaram

EMBL-EBI, Hinxton, UK

Majority of the human genome is non-coding (i.e., DNA that does not encode a protein), and
was once referred to as “junk” DNA. Approximately half of this sequence is made up of
repetitive sequences called transposable elements (TEs). The extent of the non-coding
genome’s role in transcription regulation is still being uncovered. The role of the non-coding
genome in transcription regulation varies across tissue types, developmental stages and in
disease. Using chromatin immunoprecipitation with next-generation sequencing (ChIP-seq) to
quantify the biochemical activity of genetic sequences, with maps of in vivo transcription factor
binding sites, we identify active regulatory sequences in the non-coding genome and in TEs to
understand transcriptional regulation in two parts. First, studying the role of TEs in rewiring
transcriptional networks by harboring transcription factor binding sites. Second, investigating
the influence of the epigenome on the developing tumor’s mutational and transcriptional
landscape. Together, the goal is to understand how the non-coding genome shapes cellular
phenotypes in normal and cancer cells.