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Biomedical Sciences
John Schimenti, Ph.D.
Professor of Genetics; Director, Center for Vertebrate Genomics

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Phone: 607 253 3636
E-mail: jcs92@cornell.edu
Research Overview

My laboratory uses the mouse as a model system to investigate the genetics of mammalian development, gametogenesis, and cancer.  We have used forward and reverse genetic technologies to mutagenize the mouse genome and identify novel genes involved in these processes.  With respect to cancer, we are studying mutations in DNA replication genes that cause genomic instability and cancer.  One of our models causes cancer in nearly all animals, but the type of cancer depends on genetic background.  We are focusing on using a strain background that causing mammary tumors in females, and using genomic and genetic tools to identify genes that contribute to breast cancer development.  We are also conducting genetic studies to characterize the background genes that influence susceptibility to various cancer types. 

With respect to gametogenesis, we are using mutant mouse models to identify and understand genes required for recombination and chromosome behavior during meiosis. Of particular interest are “quality control” mechanisms which normally protect against chromosome aberrations that can lead to birth defects in offspring. We are currently focusing on checkpoint pathways that are responsible for culling oocytes bearing unrepaired DNA damage.

Please visit the official Schimenti Lab Web Site:

http://schimentilab.vertebrategenomics.cornell.edu/

Selected Recent Publications

  1. Wallace, M., Pfefferle, A., Shen, L., McNairn, A., Cerami, E., Fallon, B., Rinaldi, V., Southard, T., Perou, C., and Schimenti, J. (2012) Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. Genetics 192:385-396.
  2. Su, Y-Q, Sugiura, K., Sun, F., Pendola, J., Cox, G., Handel, MA., Schimenti, J. and Eppig, J.  (2012) MARF1 regulates essential oogenic processes in mice.  Science, 335:1496-9.
  3. Chuang, C., Yang, D. Bai, G., Freeland, A., Pruitt, S. and Schimenti, J. (2012) Post-transcriptional homeostasis and regulation of MCM2-7 in mammalian cells. Nucleic Acids Res. 40:4914-4924.
  4. Hartford, S. Luo, Y., Southard, T., Min, I., Lis, J. and Schimenti, J. (2011) Minichromosome maintenance helicase paralog MCM9 is dispensible for DNA replication but functions in germline stem cells and tumor suppression.  PNAS 108:17702-7.
  5. Li, X., Bolcun-Filas, E., and Schimenti, J. (2011) Genetic evidence that synaptonemal complex axial elements govern recombination pathway choice in mice.  Genetics, 189:71-82
  6. Bolcun-Filas, E., Bannister, L., Barash, A., Schimenti, K., Hartford, S., Eppig, J., Handel, MA, Shen, L.  and Schimenti, J.  (2011) A-MYB is a master regulator of meiosis in male mice.  Development 138:3319-3330.
  7. Chuang, C., Wallace, M., Abratte, C., Southard, T. and Schimenti, J.  (2010) Incremental genetic perturbations to MCM2-7 expression and subcellular distribution reveal exquisite sensitivity of mice to DNA replication stress.  PLoS Genetics, 6(9):e1001110.
  8. Mihola, O., Trachtulec, Z., Vicek, C., Schimenti, J. and Forejt, J. (2009) A mouse speciation gene encodes a meiotic H3 methyltransferase. Science 323:373-375.
  9. 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.
  10. Li, X. and Schimenti, J.  Mouse Pachytene Checkpoint 2 (Trip13) is required for completing meiotic recombination but not synapsis. (2007) PLoS Genetics 3:e130.
  11. Ward, J., Reinholdt, L., Motley, W., Niswander, L., Deacon, D.,  Griffin, L., Langlais, K., Backus, V., Schimenti, K., O’Brien, M., Eppig, J. and Schimenti, J.  (2007) Mutation in mouse Hei10, an E3 ubiquitin ligase, disrupts meiotic crossing-over.  PloS Genetics 3: e139.
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