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Retinoblastoma and the Rb1 Gene

Justin Lengfeld. Retinoblastoma and the Rb1 Gene. Two Forms: Genetic Heritable Non-Genetic Non Heritable ~1 in 20,000 births worldwide 95-98% Cure Rate. The Disease. Chance of mortality increases as size of tumor increases Leukocoria. The Disease. Two Hit Hypothesis.

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Retinoblastoma and the Rb1 Gene

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  1. Justin Lengfeld Retinoblastoma and the Rb1 Gene

  2. Two Forms: Genetic Heritable Non-Genetic Non Heritable ~1 in 20,000 births worldwide 95-98% Cure Rate The Disease

  3. Chance of mortality increases as size of tumor increases Leukocoria The Disease

  4. Two Hit Hypothesis Genetic Heritable Retinoblastoma

  5. Location: 13q14.2 Length: 178.14 kb Homologs: Chimpanzee Dog Rat Mouse Cattle Chicken Zebra Fish The Gene

  6. Phylogeny

  7. Pairwise Alignment

  8. 928 amino acids long Widely Present in Tissue Tumor Suppressor Protein Binds E2F Transcription Factor Attracts Histone Deacetylase The Protein

  9. The Protein

  10. 3 Domains: N-terminus C-terminus A/B Pocket The Protein

  11. Human Rat The Protein

  12. Multiple Sequence Alignment of the Cyclin Domain in RB1 Homologs The Protein

  13. Why the eye? Improve early detection methods Future Directions

  14. Raquel H. Barbosa, et al. (2008) Hereditary retinoblastoma transmitted by maternal germline mosaicism. Medical and Pediatric Oncology, 51(5): 598-602 The New York Times. July 24, 1984. New Category of Cancers Found. Lee et. al. (February 4, 1987). Human Retinoblastoma Susceptibility Gene: Cloning Identification, and Sequence. B Sonnichsen, et al. (2005) Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans. Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer. DiCiomma D. et al. seminars in CANCER BIOLOGY, Vol. 10, 2000: pp. 255–269 References

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