John Schimenti
Professor of Genetics
Director, Center for Vertebrate Genomics

Phone

607-253-3636

Address

Department of Molecular Biology & Genetics
Department of Biomedical Sciences
T9014A Vet Research Tower
Cornell University
Ithaca, NY 14853-2703

Email

Web Sites

Background

John Schimenti is a Professor of Genetics with a primary appointment in the Dept. of Biomedical Sciences and an adjunct appointment in the Dept. of Molecular Biology and Genetics. He also serves as Director of the Center for Vertebrate Genomics at Cornell. He received a B.A. from Rutgers College with majors in English and Biological Sciences in 1981, and his Ph.D. in Developmental Biology from the University of Cincinnati in 1985. After a postdoctoral fellowship with Lee Silver at Princeton studying mouse genetics, he became an Assistant Professor in the Dept. of Genetics at Case Western Reserve Univ. in 1987. There, he received the Searle Scholars Award, a Basil O’Connor award from the March of Dimes, and was named a Presidential Young Investigator by the National Science Foundation. In 1992, he moved to The Jackson Laboratory in Bar Harbor, Maine, where he was a Senior Staff Scientist before relocating to Cornell in 2004. Dr. Schimenti has served as a permanent member of the Eukaryotic Genetics review panel at NSF, the Mammalian Genetics study section at NIH, and the Secretariat of the International Mammalian Genome Society. His research is funded by the National Institutes of Health.

Research Description

My laboratory uses the mouse as a model system to investigate the genetics of mammalian development, gametogenesis, and genomic instability (GIN).  We have used forward and reverse genetic technologies to mutagenize the mouse genome and identify novel genes involved in these processes.  With respect to GIN, which is a hallmark of cancer cells, we generated a hypomorphic allele of an essential and highly conserved DNA replication gene called Mcm4.  This causes a 20 fold elevation of GIN, and mutant females are highly susceptible to mammary tumors.  We are investigating the molecular basis for the mammary tumor specificity of this unique mutant mouse model, and exploring the roles of other DNA replication genes in cancer.  With respect to gametogenesis, we have generated a collection of infertility mutations that we are exploiting to understand the genetic control of gamete development. In particular we concentrate on genes that are required for recombination and chromosome behavior during meiosis. 

Publications

Shima, N., Alcaraz, A., Liachko, I., Buske, T., Andrews, C., Munroe, R., Hartford, S., Tye, B., and Schimenti, J. (2007) A viable mutation of Mcm4 causes genomic instability and mammary adenocarcinoma in mice. Nature Genetics 19: 93-98.

Howell, G., Shindo, M., Murray, S., Gridley, T. Wilson, L. and Schimenti, J. (2007) Mutation of an ubiquitously-expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. Genetics 175:699-707. (Cover)

Bannister, L., Pezza, R., Donaldson, J., de Rooij, D., Schimenti, K., Camerini-Otero, D. and Schimenti, J. (2007) Male-specific sterility in mice carrying a dominant, recombination-defective allele of the RecA homolog Dmc1. PLoS Biology 5:e105.

Harris, T., Marquez, B., Suarez, S. and Schimenti, J. (2007) Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the SUN domain-containing family of putative RNA methyltransferases. Biol. Reprod. 77: 376-382.

Shima, N., Buske, T. and Schimenti, J. (2007) Genetic screen for chromosomal instability in mice: Mcm4 and breast cancer. Cell Cycle 6: 1135-1140.

Li, X. and Schimenti, J. Mouse Pachytene Checkpoint 2 (Trip13) is required for completing meiotic recombination but not synapsis. (2007) PLoS Genetics 3:e130.

Ward, J., Reinholdt, L., Motley, W., Niswander, L., Deacon, D., Griffin, L., Langlais, K., Backus, V., Schimenti, K., OBrien, M., Eppig, J. and Schimenti, J. (2007) Mutation in mouse Hei10, an E3 ubiquitin ligase, disrupts meiotic crossing-over. PLoS Genetics 3: e139.

Philipps, D., Wigglesworth, K., Hartford, S., Sun, F., Pattabiraman, S., Schimenti, K., Handel, M.A., Eppig, J.J. and Schimenti, J. (2008 The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Devel Biol 317:72-82.

Mu, W., Wang, W. and Schimenti, J. (2008) An allelic series uncovers novel roles of he BRCT domain-containing protein PTIP in angiogenesis and vascular development. Mol Cell. Biol. 28: 6439-6451.

Click here to for Dr. Schimenti's PubMed listings.