Research in my laboratory is focused on understanding the molecular mechanism of DNA repair and mutagenesis in eukaryotes and the roles of these processes in cancer associated with both spontaneous DNA damage and that caused by environmental carcinogens. The human hereditary disease xeroderma pigmentosum (XP) is characterized by defective DNA repair and an increased predisposition to cancer caused by environmental agents. XP is genetically complex and is represented by multiple unlinked genes.
We have used cloned human genes as probes to isolate homologous mouse genes in order to generate mouse mutant models for investigating the molecular pathology of XP, and the relationships between defective DNA repair and cancer predisposition.
We have identified a gene in humans that encodes a novel DNA polymerase (one of multiple such novel polymerases recently discovered) which is involved in the generation of spontaneous mutations in cells. The physiological function(s) of this novel DNA polymerase is presently unknown and is being investigated in mutant mice generated by conventional and conditional knock-out strategies. The yeast Saccharomyces cerevisiae is a powerful eukaryotic model system because of its genetic and molecular versatility and because yeast genes for DNA repair and mutagenesis are highly conserved in humans.
Present studies are focused on understanding newly discovered relationships between DNA repair and functions of the 19S regulatory complex of the proteasome.
- Medical School
- London Hospital School of Medicine - England (1961)
- DNA repair and Its relationship to carcinogenesis
- DNA Damage and Repair.
- Friedberg, E. C. Nature 2003 421 436-439
- How Nucleotide Excision Repair Protects Against Cancer
- Friedberg, E. C. Nature Reviews Cancer 2001 1 22-33
- Mutations in the Trp53 Gene of UV-Irradiated Xpc Mutant Mice Suggest A Novel Xpc-Dependent DNA Repair Process
- Nahari, D., McDaniel, L., Task, L. B., Daniel, R. L., Velasco-Miguel, S. and Friedberg, E. C. DNA Repair 2004 3 379-386
- The Role of Endogenous and Exogenous DNA Damage and Mutagenesis
- Friedberg, E. C., McDaniel, L. and Schultz, R. A. Curr. Opin. Genet. Devel. 2004 14 5-10
- Mouse Rev1 Protein Interacts With Multiple DNA Polymerases Involved in Translesion DNA Synthesis
- Guo, C., Fischhaber, P. L., Luk-Paszyc, M., Masuda, Y., Zhou, J., Kisker, K. and Friedberg. E. C. EMBO J. 2004 22 6621-6630
- DNA Replication Fidelity
- Friedberg, E. C. and Fischhaber, P.L. Encyclopedia of the Human Genome 2003 2 167-171
Honors & Awards
- Lila Gruber Honor Award for Cancer Research
American Academy of Dermatology (2007)
- Honorary Doctorate in Science
University of the Witwatersrand (2002)
- Mellon Lecturer
University of Pittsburgh (2002)
- Rous-Whipple Award
American Society for Investigative Pathology (2000)
Royal College of Pathologists (1988)