Bloom syndrome is a rare autosomal recessive disease caused by loss of function mutations in the BLM gene and characterized by telangiectatic erythema, proportionaJ dwarfism, immune deficiency, infertility, type II diabetes, and a predisposition to many types of cancer. It is unclear how germline mutations in BLM that encodes a helicase protein lead to the highly tissueMspecific changes and disease states associated with BS. In addition, previous works have demonstrated the various roles of BLM in DNA replication and repairs; however, there is currently no mechanism to acutely disable BLM function in cells in order to identify synthetic lethality with other DNA repair factors in an effort to determine how the pathological features of BS might driven by the loss of a single helicase alone. This work aims to develop the fist selective and patent BLM inhibitor that could be used to characterize the role of BLM in gene and rnicroRNA expression as well as the dual effects ofBLM and other DNA damage response proteins such as NIP45. 8
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:600238 |
| Date | January 2013 |
| Creators | Nguyen, Giang Huong |
| Publisher | University of Oxford |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
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