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Identification of the Drosophila melanogaster homolog of the human spastin gene

Kammermeier, Lars ; Spring, Jürg ; Stierwald, Michael ; Burgunder, Jean-Marc ; Reichert, Heinrich

In: Development Genes and Evolution, 2003, vol. 213, no. 8, p. 412-415

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    Title
    • Identification of the Drosophila melanogaster homolog of the human spastin gene
    Author
    • Kammermeier, Lars. Institute of Zoology, Biozentrum/Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056, Basel, Switzerland
    • Spring, Jürg. Institute of Zoology, Biozentrum/Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056, Basel, Switzerland
    • Stierwald, Michael. Institute of Zoology, Biozentrum/Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056, Basel, Switzerland
    • Burgunder, Jean-Marc. National University of Singapore and National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433, Singapore, Singapore
    • Reichert, Heinrich. Institute of Zoology, Biozentrum/Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056, Basel, Switzerland
    Document Type
    • Postprint
    OAI-PMH Identifier
    • oai:doc.rero.ch:309976
    Summary
    The human SPG4 locus encodes the spastin gene, which is responsible for the most prevalent form of autosomal dominant hereditary spastic paraplegia (AD-HSP), a neurodegenerative disorder. Here we identify the predicted gene product CG5977 as the Drosophila homolog of the human spastin gene, with much higher sequence similarities than any other related AAA domain protein in the fly. Furthermore we report a new potential transmembrane domain in the N-terminus of the two homologous proteins. During embryogenesis, the expression pattern of Drosophila spastin becomes restricted primarily to the central nervous system, in contrast to the ubiquitous expression of the vertebrate spastin genes. Given this nervous system-specific expression, it will be important to determine if Drosophila spastin loss-of-function mutations also lead to neurodegeneration