Alexandre Reymond, Associate Professor
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Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group. He joined in 2000 the Department of Genetic Medicine and Development, University of Geneva Medical School. He moved to the Center for Integrative Genomics in October 2004. Human genetics, aneuploidy, Williams-Beuren syndrome, gene expression, genotype-phenotype correlation |
Research Summary
Genome Structure and Expression
A fundamental question in current biomedical research is to establish a link between genomic variation and phenotypic differences, which encompasses both the seemingly neutral polymorphic variation, as well as the pathological variation that causes or predisposes to disease. In addition to the millions of individual base-pair changes that distinguish any two unrelated copies of our genome, recent reports have described large numbers of copy number variable regions (CNVs). Much effort has been put into the identification and mapping of these regions in humans and a number of model organisms, but a comprehensive understanding of its phenotypic effect is only beginning to emerge.
We are assessing the functional impact of genome structural changes, such as CNVs and balanced rearrangements (inversions and translocations) using either human cell lines or mouse tissues. We have, for example, demonstrated that expression levels of genes within CNVs tend to correlate with copy number changes, and that CNVs also influence the expression of genes in their vicinity - an effect that extends up to half a megabase. We provided initial evidence that CNVs shape tissue transcriptomes on a global scale and thus represent a substantial source for within-species phenotypic variation.
Representative publications
Walters, R.G. including Reymond, A., A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2, Nature 463, 2010, 671-675.
Henrichsen, C.N., Chaignat, E. & Reymond, A., Copy number variants, diseases and gene expression, Hum Mol Genet 18(R1), 2009, R1-R8.
Henrichsen, C., Vinckenbosch, N., Zöllner, S., Chaignat, E., Pradervand, S., Frédéric Schütz, Ruedi, M., Kaessmann, H. and Reymond, A., Segmental copy number variation shapes tissue transcriptomes. Nat. Genet. 41, 2009, 424-9.
The ENCODE Project Consortium including Reymond, A., The ENCODE pilot project: identification and analysis of functional elements in 1% of the human genome, Nature 447, 2007, 799-816.
Merla, G., Howald, C., Henrichsen, C.N., Lyle, R., Wyss, C., Zabot, M.T., Antonarakis, S.E., & Reymond, A., Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes, Am J Hum Genet 79, 2006, 332-341.
