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Genetic basis of disorders and genomic duplications: anxiety disorders and other chromosome 15 rearrangements


The goal of this research project is to investigate the association between genomic rearrangements caused by segmental duplications and the pathogenesis of human genetic disease. In particular we will focus on the analysis of the anxiety disorders, wich ar e complex and common psychiatric diseases associated with high morbidity and social cost. We have recently identified a genomic duplication on chromosome 15q24-26 (DUP25), which is a genetic susceptibility factor for these pathologies. The most likely mech anism causing anxiety disorders is the overexpression of specific genes on DUP 25. For this reason, one of the main objectives of this project is the analysis of gene dosage variation as a consequence of DUP25. We have developed murine models of overexpres sion of some of the genes contained in the duplicated region. Overexpression of one of these genes shows an anxiety phenotype in the murine model. Furthermore, the pathologic phenotypes could also be a consequence of the variation of global gene expression caused by these genomic mutations. In order to investigate this hypothesis, the consequences of DUP25 on the rest of the transcriptome will be evaluated throughout microarrays. Comparative hybridisation using microarrays should allow us the identification of genes responsible for these disorders that will be the object of further investigation. Finally we also plan the study of other genomic rearrangements associated with human chromosome 15 alterations, such as the case of the 15q11-13 deletions in Prader -Willi and Angelman syndrome. The investigation and understanding of the genomic organization of these duplicated genomic regions, covering all the aspects of the variability, should seed light on the mechanisms that lead to these human genomic disorders, and to understand the consequences of such rearrangements at the tissue and organ level. The identification of the underlying molecular causes of these genomic disorders should also facilitate their preventi#

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Passeig Maritim 37-49

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