The control of gene expression is essential for development of complex organisms. It represents the implementation of the blueprint encoded in our genome and its alteration, either through mutations or epigenetic perturbations, cause developmental malformations, more or less detrimental deficiencies and cancer. The Molecular Genetics Research Unit has investigated those mechanisms from basic principles all the way to their applications in human health.
In particular, Jacques Drouin's team discovered novel regulators of gene expression, such as the Pitx subfamily that controls pituitary and craniofacial development (Pitx1), identity of legs compared to arms (Pitx1), left-right asymmetry (Pitx2), muscle development (Pitx2 and Pitx3) and survival of the dopaminergic neurons that degenerate in Parkinson disease (Pitx3). In recent years, the group has contributed critical insight into the mechanism of action of pioneer factors that remodel the epigenome for specification of cell fate.
The laboratory also discovered the factor Tpit that drives differentiation of the hormone-producing POMC cells of the pituitary and that causes, when mutated, a hormone deficiency that is lethal to newborns but entirely treatable by hormone replacement therapy. Investigations of the mechanisms of hormone action led the group to identify critical deregulations that cause hormone resistance in Cushing disease and that contribute to the development of these highly deleterious adenomas.
- Director, Molecular Genetics Research Unit, IRCM
- Full IRCM Research Professor
- Full Research Professor, Department of Biochemistry (accreditation in molecular biology), Université de Montréal
- Adjunct Professor, Department of Medicine (Division of Experimental Medicine), Department of Anatomy and Cell Biology, and Department of Biochemistry, McGill University
- Fellow, Royal Society of Canada
Awards and honours
- Fellow, Royal Society of Canada
- Ph.D. Honoris Causa, Aix-Marseille University, France, 2014
Degrees and relevant experience
- D.Sc. in Physiology, Université Laval, Supervisor Dr Fernand Labrie
- Postdoctoral Fellowship, MRC Laboratory of Molecular Biology, Cambridge, United Kingdom (1976 -1978), Supervisor Dr Fred Sanger
- Postdoctoral Fellowship, Department of Biochemistry and Biophysics, University of California, San Francisco (UCSF), USA (1979-1981), Supervisor Dr Howard M. Goodman
- Research Scholar, Medical Research Council of Canada (1981-1986)
- Scientist, Medical Research Council of Canada (1986-1991)
- Chair in Molecular Genetics, GlaxoSmithKline (1999-2004)
- Elected to the Academy of Sciences of the Royal Society of Canada (2001)
Projets en cours
The pituitary as model to understand development and disease
Tri-dimensional tissue organization
Mechanisms of cell specification
Hormonal regulation of gene expression
Cushing’s disease and pituitary adenomas
Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA, Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. - Endocrine-related Cancer 2017 Aug
van Rijn SJ, Pouwer MG, Tryfonidou MA, Grinwis GC, van der Bend JE, Beukers PE, Vastenhout N, Drouin J, Penning LC, Meij BP, Expression and clinical relevance of paired box protein 7 and sex determining region Y-box 2 in canine corticotroph pituitary adenomas. - Veterinary Journal (London, England : 1997) 2015 Jun
Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME, Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. - BMC Medical Genetics 2014 Dec 19
L'Éclaireur Progrès - Portrait of Gino Poulin, a former PhD student in Jacques Drouin's lab.
Santé log – Jacques Drouin's team has identified a molecule that, like a key, opens parts of the compacted genome.
Medical Xpress – Jacques Drouin and his team explains a cell differentiation mechanism in Nature Genetics.
Canadian Institute of Health Research (CIHR), Foundation Grant – FDN-154297 (2017-2024), $520,000 per year
Genetic and epigenetic mechanisms of pituitary development, function and disease
Support biomedical research
Montreal Clinical Research Institute (IRCM)
110, des Pins Avenue West
Montréal, Québec H2W 1R7