DmBLM’s Functions in DNA Repair and Recombination Public Deposited

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  • March 21, 2019
  • Andersen, Sabrina L.
    • Affiliation: School of Medicine, Curriculum in Genetics and Molecular Biology
  • Maintaining stable chromosomes requires an array of repair and recombination proteins. These proteins ensure that chromosomes are accurately replicated, repaired, and segregated. One such protein is the RecQ-family helicase BLM. In humans, absence of BLM causes Bloom syndrome, which is characterized by proportional dwarfism and the early onset of a broad spectrum of cancers. Cells mutant for BLM are genomically unstable, showing increased chromosome deletions, rearrangements, and sister chromatid exchange. Using Drosophila melanogaster as my model, I have characterized the sources and molecular structures of the mitotic crossovers that occur in the absence of BLM. Also, I have studied the synthetic lethality of mutations in mus309, the gene that encodes DmBLM, with mutations in genes that encode the structure-specific endonucleases GEN and MUS81, and the endonuclease-interacting protein MUS312. My research on BLM's roles in DNA repair and on the multi-faceted and well-conserved functions of MUS312 and its orthologs has provided insight into the cellular pathways vital for maintaining chromosome integrity, including interstrand crosslink repair and homologous double-strand break repair.
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  • In Copyright
  • "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Curriculum of Genetics and Molecular Biology."
  • Sekelsky, Jeff
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  • Chapel Hill, NC
  • Open access

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