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Title page for ETD etd-05252012-151148


Type of Document Dissertation
Author Robbins, Carol Bansbach
URN etd-05252012-151148
Title Identifying and defining the genome maintenance functions of SMARCAL1
Degree PhD
Department Biochemistry
Advisory Committee
Advisor Name Title
David Cortez Committee Chair
Brandt Eichman Committee Member
Christine Eischen Committee Member
Larry Marnett Committee Member
Scott Heibert Committee Member
Keywords
  • phosphorylation
  • DNA damage response
  • replication stress
Date of Defense 2012-05-17
Availability unrestricted
Abstract
In this dissertation I identify and define SWI/SNF, matrix-associated, actin-dependent regulator of chromatin, A-like 1 (SMARCAL1) as a genome maintenance protein. First, I introduce a functional genomic screen designed to identify novel genome maintenance genes. This screen led to the identification of SMARCAL1 and is the foundation for my project, providing the preliminary evidence to support that SMARCAL1 functions to maintain genome integrity. Next, I investigate the specific genome maintenance activity of SMARCAL1 and find that localization of its enzymatic activity to stalled replication forks is required for genome integrity during DNA replication. Finally, I explore how phosphorylation of SMARCAL1 regulates its function. Importantly, mutations in SMARCAL1 cause the human disease Schmike immuno-osseous dysplasia (SIOD). The research presented herein suggests that the phenotypes of SIOD are, in part, due to defects in SMARCAL1 genome maintenance activity.
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