Retinoblastoma and the Rb1 Gene Justin Lengfeld

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

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

Genetic Heritable Retinoblastoma Two Hit Hypothesis

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

Phylogeny

Pairwise Alignment

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

The Protein

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

The Protein Human Rat

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

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

References 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