‘Caretaker’ type gene diseases, such as Fanconi Anemia (FA), provide an opportunity to understand the fundamental mechanisms of host susceptibility to cancer. Unlike many caretaker gene diseases, where the defects have been associated with specific molecular processes, the underlying molecular defect in FA is unknown.
Although recent developments in the FA field have furthered our understanding of the FA pathway and its role in genomic stability, there are still unidentified FA patient groups, which means there are still unidentified FA genes. Until all the FA proteins, their complexes, and other important functional cofactors that impact the FA pathway are identified we are missing necessary pieces to complete the FA pathway puzzle. The more we learn about FA the more we gain insight into genomic instability and its role in cancer.
- My current focus: To identify functionally important proteins and protein complexes in the FA pathway.
- Long-term goal: Identify functionally important proteins within the FA pathway to aid in the development of cell-free screens for small molecules that could translate into therapeutics for FA patients.
- Sobeck, A.*, Stone, S.*, Costanzo, V., de Graaf, B., Reuter, T. de Winter, J., Wallisch, M., Akkari, Y., Olson, S., Wang, W., Joenje, H., Christian, J., Lupardus, P. L., Cimprich, K.A., Gautier, J., and Hoatlin, M. E. Fanconi Anemia Proteins are Required to Prevent Accumulation of Replication-Associated DNA Double Strand Breaks. Mol Cell Biol. 2006 Jan;26(2):425-37. abstract PDF reprint
- Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S , Dokal I, Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet. 2005, 37(9):958-63. abstract
- Dai MS, Chevallier N, Stone S, Heinrich MC, McConnell M, Reuter T, Broxmeyer HE, Licht JD, Lu L, Hoatlin ME. The effects of the Fanconi anemia zinc finger (FAZF) on cell cycle, apoptosis, and proliferation are differentiation stage-specific. J Biol Chem. 2002 Jul 19;277(29):26327-34. abstract
- van de Vrugt HJ, Koomen M, Berns MA, de Vries Y, Rooimans MA, van der Weel L, Blom E, de Groot J, Schepers RJ, Stone S, Hoatlin ME, Cheng NC, Joenje H, Arwert F. Characterization, expression and complex formation of the murine Fanconi anaemia gene product Fancg. Genes Cells. 2002 Mar;7(3):333-42. abstract
- de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum Mol Genet. 2000 Nov 1;9(18):2665-74. abstract
- Heinrich MC, Silvey KV, Stone S, Zigler AJ, Griffith DJ, Montalto M, Chai L, Zhi Y, Hoatlin ME. Posttranscriptional cell cycle-dependent regulation of human FANCC expression. Blood. 2000 Jun 15;95(12):3970-7. abstract
- Hoatlin ME, Zhi Y, Ball H, Silvey K, Melnick A, Stone S, Arai S, Hawe N, Owen G, Zelent A, Licht JD. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. Blood. 1999 Dec 1;94(11):3737-47. abstract
- 2003 Visiting Scientist, Free University of Amsterdam, The Netherlands Laboratory of Dr. Hans Joenje
- 2005 Visiting Scientist, National Institute of Health, Baltimore, Maryland Laboratory of Dr. Weidong Wang
- 2003-present Ph.D. candidate: Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands (under the supervision of Dr Maureen Hoatlin and Dr. Hans Joenje)
- B.S. in Molecular Biology and Biotechnology, Portland State University 2000
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