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, genome annotation, genome structure, gene expression, genotype-phenotype correlation, 16p11.2
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 have assessed 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 demonstrated that expression levels of genes within CNVs tend to correlate with copy number changes, and that structural changes influence the expression of genes in their vicinity - an effect that may extends over the entire length of the affected chromosome. Using engineered mice models we further showed that some phenotypes were caused by structural changes per se rather than by gene dosage.
We provided initial evidence that CNVs shape tissue transcriptomes on a global scale and thus represent a substantial source for within-species phenotypic variation.
Jacquemont*, S., Reymond*, A. and 176 other authors, Mirror extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus, Nature 478, 2011, 97-102. [DOI] [WoS] [Pmid]
*These authors contributed equally to this work
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E.C., Harewood, L., Kosmicki, J., Loviglio, M.N., Hippolyte, L., Maillard, A.M., the 16p11.2 European Consortium, van Haelst, M.M., Andrieux, J., Gusella, J.F., Daly, M.J., Beckmann, J.S., Jacquemont, S., Talkowski, M.E., Katsanis, N. & Reymond, A., A potential contributory role for ciliary dysfunction in the 16p11.2 600kb BP4-BP5 pathology, Am J Hum Genet 96(5), 2015, 784-96. [DOI] [WoS] [Pmid]
Männik, K., Mägi, R., Macé, A., Maillard, A.M., Alavere, H., Kolk, A., Reigo, A., Leitsalu, L., Ferreira, A.M., Nõukas, M., Mihailov, E., Beckmann, J.S., Jacquemont, S., Kutalik, Z., Metspalu, A. & Reymond, A., Copy number variations and cognitive phenotypes in unselected populations, JAMA 313(20), 2015, 2044-2054. [URN] [DOI] [WoS] [Pmid]
Loviglio, M.N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S.M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Hippolyte, L., Maillard, A.M., 2p15 Consortium, 16p11.2 Consortium, Van Dijck, A., Kooy, R.F., Sanlaville, D., Rosenfeld, J.A., Shaffer, L.G., Andrieux, J., Marshall, C., Scherer, S.W., Shen, Y., Gusella, J.F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E.T., Deplancke, B., Beckmann, J.S., Rougemont, J., Jacquemont, S. & Reymond, A., Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. 2016-05. Molecular Psychiatry. [DOI] [Pmid]
Nuttle, X., Giannuzzi, G., Duyzend, M.H., Schraiber, J.G., Narvaiza, I., Sudmant, P.H., Penn, O., Chiatante, G., Malig M., Huddleston, J., Benner, C., Camponeschi, F., Ciofi-Baffoni, S., Stessman, H.A., Marchetto, M.C., Denman, L., Harshman, L., Baker, C., Raja A., Penewit, K., Janke N., Tang, W.J., Ventura, M., Banci, L., Antonacci, F., Akey, J.M., Amemiya, C.T., Gage, F.H., Reymond, A., Eichler, EE. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. 2016 Nature, 536 (7615) pp. 205-209. Peer-reviewed. [DOI] [WoS] [Pmid]
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