Paula E. Cohen
Professor of Genetics

Paula Cohen

Phone

607-253-4301
Fax: 607-253-4495

Address

Department of Biomedical Sciences
Veterinary Research Tower (VRT) T3 001, T3 010, T3 014
Cornell University
Ithaca, NY 14853-2703

Email

Web Sites

Lab Web Site
Department Profile

Background

Paula Cohen received a BS in Physiology in 1989 and a Ph.D. in Reproductive Physiology in 1992 from King’s College, University of London, England. From 1993-1998, she was a Postdoctoral Research Fellow at Albert Einstein College of Medicine, Bronx, NY, USA under the guidance of Prof. Jeffrey W. Pollard, and was promoted to Instructor in 1998.  She was an Assistant Professor of Genetics at Albert Einstein College of Medicine from 2000-2004, and then at Cornell University from 2004-2007. In 2007, she was promoted to Associate Professor in the Department of Biomedical Sciences, College of Veterinary Medicine, Cornell. In 2013, she was promoted to Professor of Genetics.  Since 2005, she has been the Director of the Cornell Center for Reproductive Genomics.

Research Description

Studies in our lab are focused on the regulation of meiosis in mammals, with special emphasis on how meiotic recombination is controlled.  We focus primarily on the role of various DNA repair pathways, most notably the DNA mismatch repair (MMR) family. Initially characterized by their function in repair of DNA, and their role in the etiology of human colorectal cancer, the MMR family is important for genome stability in a variety of organisms. Their function in meiosis is no less important, since disruption of the MMR pathway in mice leads to meiotic arrest and infertility. Our lab has been heavily involved in the analysis of MMR mouse mutants and their subsequent meiotic phenotypes, and these studies form the cornerstone of our research.

In addition to the study of meiotic mutants, our lab is also interested in the identification of key protein-protein and protein-DNA interactions during mouse meiosis in order to understand how recombination events are regulated, monitored and resolved. Failure to control the timing and frequency of recombination events results in mis-segregation, or non-disjunction, of chromosomes that results in embryos that are either not viable (resulting in miscarriage) or in offspring with genetic disorders such as trisomy 21, or Down syndrome. We hypothesize that the MMR pathway, as well as other DNA repair proteins such as members of the Fanconi Anemia pathway, play an essential role in directing appropriate recombination events during meiosis.  A major goal of our research is to understand how these various pathways interact.

In addition to our studies of meiotic recombination, we are also interested in the unique transcriptional silencing mechanisms that exist during prophase I of meiosis. In particular, the silencing of the sex chromosomes is a hallmark of mammalian meiosis, and yet its function and mechanism remains poorly understood. Our studies are focused on elucidating the role of non-coding RNAs in this silencing phenomenon.

Selected Publications

  • Modzelewski A., Holmes R.J., Hilz S., Grimson A., and Cohen P.E.  AGO4 regulates entry into meiosis and influences silencing of sex chromosomes in the male mouse germ line.  Developmental Cell 23:251-264 (2012) PMID: 22863743  PMCID: PMC3470808
  • Holloway, J.K., Sun X., Yokoo R., Villeneuve A.M., and Cohen P.EMammalian CNTD1 is critical for meiotic crossover maturation and deselection of excess precrossover sites.  Journal of Cell Biology 205: 633-641 (2014). PMID: 24891606  PMCID: PMC4050721
  • Holloway, J.K. and Cohen, P.E. Mammalian Meiosis in Knobil and Neill’s Physiology of Reproduction, Volume 4.  Chapter 1, pages 5-57  (2015)
  • Double trouble in human aneuploidy. Nature Genetics 47: 696-698 (2015) PMID: 26111508