Sean Merriman

Sean Merriman

CM 793 Presentation Date: September 9, 2021 @ 2:00 PM in Pathology 103

Title: Regionally-biased CNVs accompany large-scale chromosomal rearrangements in S. cerevisiae

Advisor:  Lucas Argueso


Gene copy number variations (CNVs) are a particularly important component of the altered genomes of breast and ovarian cancer cells, yet our understanding of the mechanisms that trigger these large-scale mutations is still very limited. Using yeast as a model in which to study such CNV-generating mutations, the J.L. Argueso lab has discovered that a specific region of S. cerevisiae genome (the right arm of chromosome 7; Chr7R) is much more susceptible to the formation of chromosomal rearrangements leading to large deletions or translocations than other apparently similar segments of the genome. To further illuminate the nature of these rearrangements, we are utilizing cell-based genetic assays, pulsed-field gel electrophoresis, and array comparative genomic hybridization, techniques which facilitate detection of both novel fusion chromosomes as well as genome-wide CNVs. We are hopeful that our findings will open a window into the fundamental cellular processes that are responsible for CNVs found in eukaryotic genomes, and inform translational implications for modeling this class of mutation in cancer.