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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. - PowerPoint PPT Presentation
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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
The DiseaseChance 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
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
The Protein
3 Domains:N-terminusC-terminusA/B Pocket
The Protein
Human Rat
The Protein
Multiple Sequence Alignment of the Cyclin Domain in RB1 Homologs
Future Directions
Why the eye?
Improve early detection methods
ReferencesRaquel 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
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