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FRISC: The Faculty Research Interests Science Comparator |
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Professor of Pathology
Biological Chemistry
Integrative Biology
Genetics and
Development
Integrative Biology
Office: (214) 648-4020
FAX: (214) 648-4067
Email: friedberg.errol@pathology.swmed.edu
The genome of all living organisms is subject to damage caused
spontaneously or by exposure to environmental agents, which interact with DNA. Unrepaired
DNA damage can result in permanent mutations and the most important phenotypic
consequences of mutations in somatic cells are neoplastic transformation. My laboratory is
interested in understanding the molecular mechanisms by which cells repair DNA damage and
thereby mitigate against the development of cancer.
The yeast Saccharomyces cerevisiae is used as an eukaryotic
model to explore the molecular biology and biochemistry of nucleotide excision repair
(NER), a specific repair mode by which damaged bases are enzymatically excised from the
genome. NER in yeast requires the products of at least 15 genes. A number of these genes
are also required for RNA polymerase II transcription.
The hereditary human diseases xeroderma pigmentosum (XP) and Cockayne's
syndrome (CS) are characterized by defective NER and by severe developmental and
neurological dysfunction (CS), and a profound cancer predisposition (XP). In order to
understand the molecular pathogenesis of these diseases we are studying cloned human genes
directly to decipher their functional roles. Additionally we have constructed
knock-out mouse strains carrying specific mutations, which mimic those present
in human XP and CS patients. These mice offer the potential for phenotypic, biochemical
and molecular studies on these diseases, and their relationship to cancer predisposition.
Finally, we have recently cloned mouse and human genes that are
specifically required for the generation of spontaneous mutations in DNA. We are
studying the function of these genes and their protein products and are constructing
knock-out mice defective in these gene functions.
Selected Publications:
Friedberg EC. and Gerlach VL. (1999) Novel DNA Polymerases Offer
Clues to the Molecular Basis of Mutagenesis. Cell (in press)
Russell SJ, Reed SH, Huang W, Friedberg EC. and Johnston SA. (1999) The
19S Regulatory Complex of the Proteasome Functions Independently of Proteolysis in
Nucleotide Excision Repair Molecular Cell 3: 687-695.
Friedberg EC, Cheo, DL, Meira, LB and Reis AM. Cancer Predisposition in
Mutant Mice Defective in the XPC DNA Repair Gene. (1999) In Animal
Models of Cancer Predisposition Syndromes , H. Hiai and O. Hino (eds.) Prog. Exp.
Tumor Res. 35: 37-52.
Henning KA, Lei L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M,
Lehmann AR, Mayne LV, and Friedberg EC. (1995) The Cockayne Syndrome Group A Gene Encodes
a WD-Repeat Protein Which Interacts With CSB Protein and a Subunit of RNA Pol II
Transcription Factor IIH (TFIIH) Cell 82: 554-564.
Page maintained by Stephanie
Robertson
Last updated: 17 Nov 2000
Extraction Method: Expand using Medical Synonyms-
Eliminated words list: MedlinePlus List
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Similarity Method: Weighted keyword count
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Database: Medline abstracts (1967 - Present)
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Publication Type: All
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Score Calculation Method: Cosine Similarity Method
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Results computed on: 6/9/2006