Characterization of Mutated DNA Repair Genes

Sydney Keffer

Authors: Sydney Keffer, Dr. Michael Sehorn, and Garrett Buzzard

Faculty Member: Dr. Michael Sehorn

College: College of Genetics and Biochemistry


Abstract: Identification of Cancer Mutations in MEIOK21 and HSF2BP


Homologous recombination (HR) is an essential mechanism of DNA repair where a template strand is used to mend double-stranded breaks (DSBs). If DSBs are left unrepaired, they often lead to cell death and a loss of genetic information. It is suspected that MEIOK21/BRME1/c19orf57 interacts with MEILB2/HSF2BP to modulate localization of recombinases to DSB sites during HR. In my project, I found conserved DNA sequences, developed models of the secondary and tertiary protein structure, and analyzed cancer databases for the common amino acid missense mutations and primary cancers associated with meiotic genes MEIOK21/BRME1/c19orf57 and MEILB2/HSF2BP. I further analyzed the MEIOK21/BRME1/c19orf57 and separately, MEILB2/HSF2BP genes to determine the overlap in cancers that contained a missense mutation in these genes. The goal was to determine which amino acids when mutated formed cancer, so that we could later determine their functionality and role in their respective gene.