1. Retinoblastoma and the Rb1 Gene
Justin Lengfeld

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

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

4. Genetic Heritable Retinoblastoma
Two Hit Hypothesis

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

6. Phylogeny

7. Pairwise Alignment

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

9. The Protein

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

11. The Protein
Human Rat

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

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

14. References
Raquel H. Barbosa, et al. (2008) Hereditary retinoblastoma transmitted by maternal germline mosaicism. Medical and Pediatric Oncology, 51(5):
The New York Times. July 24, 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