Ryan Morin

Theoretical Investigation of the D83V Mutation within the Myocyte-Specific Enhancer Factor-2 Beta and Its Role in Cancer

The D83V mutation in the myocyte-specific enhancer factor-2 beta (MEF2B) gene is frequently observed in lymphomas. Surprisingly, this apparent gain-of-function mutation is within a protein that is involved in the promotion of apoptosis in B cells. To investigate the oncogenic effects of this alteration and explain its predominance over other known loss-of-function mutations of MEF2B, we propose a hypothesis that this mutation influences the dynamic folding of the C-terminal loop of the N-terminal domain of MEF2B. According to our hypothesis, the mutation allows MEF2B to bind promiscuously to a wider variety of gene promoters. A large set of molecular dynamic simulations (MD) was conducted to investigate the effects of D83V mutation in silico and support the hypothesis.

Transcriptomics in the Age of Ultra High-Throughput Sequencing

Analyzing the RNA from populations of diseased and/or normal cells offers the ability to capture their active functional protein-coding genes, microRNAs, and other non-coding RNAs. Emerging ultra high-throughput sequencing technologies have facilitated an improved appreciation of the massive complexity of the transcriptome and are beginning to facilitate the discovery of features that may one day inform new treatments and diagnoses. We discuss the recent application of transcriptome sequencing to the improvement of genome annotation, citing examples from the analysis of cancers and other diseases, and suggest that, due to their increased power and enhanced resolution, sequencing-based techniques will eventually replace array-based methods for transcriptomics.