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Chan, H.Y.E. and Bonini, N.M. Howard Hughes Medical Institute, Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, PA 19104-6018, USA.

Polyglutamine diseases are caused by trinucleotide CAG repeat expansion in the open reading frames of disease protein encoding genes, including the IT-15 locus of Huntington's Disease (HD). A variety of in vitro and in vivo disease models have been established and this approach has proven to be fruitful in gaining insight into the underlying mechanisms of this group of diseases. The fruit fly, Drosophila melanogaster, has been used as a model organism for studies of various developmental and signal transduction pathways. Furthermore, over 60% of human disease genes are evolutionary conserved in the Drosophila genome. This strongly encourages the establishment of human disease models in Drosophila, in order to apply the advantages of a model genetic system to the problem. In this chapter, we focus on recent advances of the use of Drosophila as an in vivo model organism to elucidate pathogenetic pathways of human polyglutamine disease.