Home Department: Biology
Mentor: Gheorghe Chistol (Chemical & Systems Biology)

“When a Genome Guardian Fails: Uncovering Replication Initiation Defects Caused by RecQL4 Mutations Associated with Human Disease"

RecQL4 is a DNA maintenance factor crucial for genome stability. Several genetic diseases caused by RecQL4 mutations lead to premature aging, developmental abnormalities, and cancer predisposition. While these phenotypes have been associated with issues in RecQL4’s DNA repair activity, recent evidence suggests they’re caused by deficient replication initiation. Elyse will characterize how RecQL4 mutations impair replication initiation using a system established by the Chistol lab. Elyse will prepare recombinant RecQL4 with mutations reported in human patients. She will prepare RecQL4-depleted nuclear extract and supplement it with different mutants. Finally, Elyse will quantify replication initiation activity using established assays.