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Bloom Helicase

Bloom Helicase. Sheena Cooper BIOL 445 Spring 2013. Bloom Syndrome. http://med.cornell.edu/bsr/i/map.gif. Characterized by…. Small stature Eating problems Skin changes Immune deficiencies Premature aging COPD Diabetes Chromosomal instabilities = CANCER.

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Bloom Helicase

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  1. Bloom Helicase Sheena Cooper BIOL 445 Spring 2013

  2. Bloom Syndrome http://med.cornell.edu/bsr/i/map.gif

  3. Characterized by… • Small stature • Eating problems • Skin changes • Immune deficiencies • Premature aging • COPD • Diabetes • Chromosomal instabilities = CANCER http://med.cornell.edu/bsr/clinical_description/

  4. Diagnosis Chaganti et al., PNAS, pg 4508, 1974

  5. BLM Monnat, Seminars in Cancer Biology, pg 329, 2010

  6. RECQ family • Includes five helicases • Three of these cause cancer predisposition syndromes

  7. Function in Cell Monnat, Seminars in Cancer Biology, pg 329, 2010

  8. Function in Organism Mice and humans are a little different… Monnat, Seminars in Cancer Biology, pg 329, 2010

  9. BLM in cancer Monnat, Seminars in Cancer Biology, pg 329, 2010

  10. Treatment of BS • No real treatment—just management of symptoms related to infections, diabetes, and eating problems as well as early screenings for various types of cancers

  11. BLM inhibitors in treatment of non-BS cancers Nguyen et al., Cell Press, pg 55, 2013

  12. References A Concise Clinical Description of Bloom’s Syndrome. Retrieved from http://med.cormell.edu/bsr/clinical_description/ Banerjee, T. (2013). A new development in DNA repair modulation: Discoveryof a BLM helicase inhibitor. Cell Cycle, 12(5), 713-714. Chaganti, R. S. K., et al. (1974). A Manyfold Increase in Sister Chromatid Exchanges in Bloom's Syndrome Lymphocytes . Proceedings of the National Academy of Sciences, 71(11), 4508-4512. German, J. Bloom's syndrome. Retrieved from <http://www.bloomssyndrome.org/bloomssyndrome.htm > Gyimesi, M., et al. (2012). Complex activities of the human Bloom's syndrome helicase are encoded in a core region comprising the RecAand Zn-binding domains. Nucleic Acids Research, 40(9), 3952-3963. Mirzaei, H. (2012). Non-bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. Proceedings of the National Academy of Sciences, 109(47), 19357-19362. MonnatJr., R. J. (2010). Human RECQ helicase: Roles in DNA metabolism,mutagenesis and cancer biology. Seminars in Cancer Biology, 329-339. Nguyen, G., et al. (2013). A Small Molecule Inhibitor of the BLM Helicase Modulates Chromosome Stability in Human Cells. Cell Press, 20, 55-62. Wan, L., et al. (2013). Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. Proceedings of the National Academy of Sciences.

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