Joanna Groden, Ph.D.
Professor, Department of Molecular Virology, Immunology and Medical Genetics

986 Biomedical Research Tower

460 W Twelfth Ave

Columbus, OH 43210
groden.2@osu.edu

Education and Training

B.A, Biology 1978, Middlebury College
Ph.D..(Cell Biology and Genetics), 1989, Cornell University Of Graduate School of Medical Sciences
Postdoctoral Fellowship in the Department of Human Genetics and the Howard Hughes Medical Insitutue at The University of Utah
  

Research Interests

Inherited predisposition to human cancer can occur by one of two genetic mechanisms. The first is by the inheritance or acquisition of a germline mutation in one of the genes involved in the pathway to malignant transformation of a particular cell type. The second is by the inheritance or acquisition of a germline mutation in a gene that controls the ability of a cell to replicate or repair its DNA and whose disruption consequently is associated with an increased mutation frequency throughout the genome. The disruption of such genes can be recognized clinically by an increased incidence of a particular tumor type in affected individuals or by an increased incidence of many tumor types in affected individuals. The study of these individuals and their families has been instrumental in the identification of important genes that control cell growth directly or that function to maintain genomic stability. Two examples of such genes are APC and BLM, mutations in which lead to adenomatous polyposis coli and Bloom's syndrome, respectively, and which encode a tumor suppressor and a RecQ-like helicase. Characteristics of each gene and their protein products are being studied in the laboratory in order to determine their normal functions and how their disruption leads to the development of cancer. Finally, mouse models of human cancers are being developed, using genetic alteration of both Apc and Blm, in order to study the formation of intestinal, lung, mammary and pancreatic tumors.

Selected Publications

Lillard-Wetherell K, Machwe A, Combs KA, Turchi J, Schonberg SA, German J, Orren D, Groden J. (2004) Opposing action of telomere proteins TRF1 and TRF2 on BLM helicase activity. Human Molecular Genetics, in press.

Carson, DJ, Santoro, IM and Groden, J. (2004) Three APC isoforms affect cell growth and tumorigenicity. Oncogene, in press.

Langland G, Elliot J, Li Y, Creaney J, Dixon K, Groden J. (2002) The BLM helicase is necessary for normal double-strand DNA break repair. Can. Res., 62:2766-2770.

Heinen CD, Goss KH, Cornelius JR, Babcock GF, Knudsen ES, Kowalik T, Groden J. (2002) The APC tumor suppressor controls entry into S-phase through its ability to regulate ß-catenin and the cyclinD/RB pathway. Gastroenterology 123: 751-763. (editorial in same issue)

Goss KH, Trzepacz C, Tuohy TMF, Groden J. (2002) Attenuated APC alleles produce functional protein from internal translational initiation. Proc Natl Acad Sci USA, 99: 8161-8166.

Goss KH, Risinger M, Kordich JJ, Sanz MM, Straughen JE, Slovek LE, Capobianco AJ, German J, Boivin GP, Groden J. (2002) Enhanced tumor formation in mice haplosufficient for Blm. Science, 297: 2051-2053.

Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, Kirchoff T, Tomsho LP, Nafa K, Pierce H, Low M, Satagopan J, Rennert H, Huang H, Greenson JK, Groden J, Rappaport B, Shia J, Johnson S, Gregersen PK, Harris CC, Boyd J, Rennert G, Offit K. (2002) BLM haplosufficiency and the risk of colorectal cancer. Science, 297: 2013.

Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, LePaslier D, Abderrahim H, Cohen D, Leppert M, White (2001) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66: 589-600.

Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, Alhadeff B, German J. (1995) Isolation of the Bloom’s syndrome gene BLM identifies it as homologous to the recQ helicase family. Cell 1995; 83: 655-666