Human genetics and cognitive functions

Thomas Bourgeron, PhD
Our group gathers geneticists, neurobiologists and clinicians to explore the relationship between genetics and the susceptibility to psychiatric conditions. We are especially interested on autism spectrum disorders, and our previous studies have revealed the implication of a synaptogenetic pathway including the synaptic cell adhesion molecules NLGN3, NLGN4X, and NRXN1 and the scaffolding protein SHANK3 - all crucial for the maintenance of functional synapses. Our aim is to identify new susceptibility genes within this pathway and to characterize the biological factors that regulate it. We explore the genetic/epigenetic hallmarks of affected individuals using high-throughput genotyping and sequencing-based methods, in combination with clinical, neurobiological and neuroimaging data collected from patients or using cell and animal models.

Members of the Bourgeron Lab (October 2009)

Name Grade Topics Employment
Corinne Baran Administrative Assistant Institut Pasteur
Jean-Pierre Bourgeois Directeur de Recherche Neurobiology CNRS
Thomas Bourgeron Professor Genetics University Paris 7
Pauline Chaste PhD, MD Psychiatry Robert Debré Hospital
Isabelle Cloëz-Tayarani Chargé de Recherche Neurobiology Institut Pasteur
Richard Delorme PhD, MD Psychiatry Robert Debré Hospital
Elodie Ey Post-doc Behaviour Institut Pasteur
Fabien Fauchereau Assistant Professor Genetics University Paris 7
Hany Goubran-Botros Engineer, PhD Biochemistry Institut Pasteur
Guillaume Huguet PhD Student Genetics Institut Pasteur
Marina Konyukh PhD Student Genetics University Paris 7
Claire Leblond PhD Student Genetics Institut Pasteur
Nathalie Lemiere Technician Genetics Institut Pasteur
Anne-Marie Le Sourd Technician Neurobiology CNRS
Anna Maruani MD Psychiatry Robert Debré Hospital
Oriane Mercati PhD Student Neurobiology Institut Pasteur
Cécile Pagan PhD Student Biochemistry University Paris 5
Roberto Toro Chargé de Recherche Neuroanatomy Institut Pasteur
Nicolas Torquet Engineer Behavior CNRS

Collaborative projects

Selected Publications

  • Gong X., Delorme R., Fauchereau F., Durand C., Chaste P., Betancur C., Goubran-Botros H., Nygren G., Anckarsäter H., Rastam M. et al. An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet 10 (2009) 7
  • Gong X., Bacchelli E., Blasi F., Toma C., Betancur C., Chaste P., Delorme R., Durand C., Fauchereau F., Botros H. G. et al Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics Part B Neuropsychiatric Genetics 147B, 6 (2008) 830-5
  • Melke J., Goubran-Botros H., Chaste P., Betancur C., Nygren G., Anckarsäter H., Rastam M., Ståhlberg O., Gillberg I. C., Delorme R. et al Abnormal melatonin synthesis in autism spectrum disorders. Molecular Psychiatry 13, 1 (2008) 90-8
  • Jordan B., Favre M., Barthélémy C., Biette S., Bourgeron T., Hérault M., Kamel D., Lemahieu M., Nieoullon A., Ramoz N. et al Génétique et Business: défendons la liberté de critique! (Genetics and business: in defence of free speech!) Médecine sciences : M/S 23, 5 (2007) 545-6
  • Durand C., Betancur C., Boeckers T., Bockmann J., Chaste P., Fauchereau F., Nygren G., Rastam M., Gillberg I. C., Anckarsäter H. et al Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39, 1 (2007) 25-7
  • Delorme R., Durand C., Betancur C., Wagner M., Ruhrmann S., Grabe H.-J., Nygren G., Gillberg C., Leboyer M., Bourgeron T. et al No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects. Biological psychiatry 60, 2 (2006) 202-3
  • Etain B., Mathieu F., Rietschel M., Maier W., Albus M., Mckeon P., Roche S., Kealey C., Blackwood D., Muir W. et al Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14. Mol Psychiatry 11, 7 (2006) 685-94
  • Durand C., Kappeler C., Betancur C., Delorme R., Quach H., Goubran-Botros H., Melke J., Nygren G., Chabane N., Bellivier F. et al Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet 141, 1 (2006) 67-70
  • Delorme R., Betancur C., Wagner M., Krebs M.-O., Gorwood P., Pearl P., Nygren G., Durand C. M., Buhtz F., Pickering P. et al Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry 10, 12 (2005) 1059-61
  • Jamain S., Betancur C., Giros B., Leboyer M., Bourgeron T. Genetics of autism: from genome scans to candidate genes Médecine sciences : M/S 19, 11 (2003) 1081-90
  • Jamain S., Quach H., Betancur C., Råstam M., Colineaux C., Gillberg I. C., Söderström H., Giros B., Leboyer M., Gillberg C. et al Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34, 1 (2003) 27-9
  • Jamain S., Betancur C., Quach H., Philippe A., Fellous M., Giros B., Gillberg C., Leboyer M., Bourgeron T. Linkage and association of the glutamate receptor 6 gene with autism. Molecular Psychiatry 7, 3 (2002) 302-10
  • Jamain S., Quach H., Quintana-Murci L., Betancur C., Philippe A., Gillberg C., Sponheim E., Skjeldal O., Fellous M., Leboyer M. et al Y chromosome haplogroups in autistic subjects Molecular Psychiatry 7, 2 (2002) 217-219


e-mail : thomasb@pasteur.fr
Phone : (33) 1 40 61 34 20
Fax : (33) 1 40 61 34 21

last update 16 mai 2011
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