title: Identification of the Drosophila melanogaster homolog of the human spastin gene.
abstract: 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.
authors.affiliation: Institute of Zoology, Biozentrum/Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland. Lars.Kammermeier@unibas.ch
authors.forename: Lars
authors.initials: L
authors.lastname: Kammermeier
authors.forename: Jürg
authors.initials: J
authors.lastname: Spring
authors.forename: Michael
authors.initials: M
authors.lastname: Stierwald
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Burgunder
authors.forename: Heinrich
authors.initials: H
authors.lastname: Reichert
mesh_terms: D000251:Adenosine Triphosphatases; D000595:Amino Acid Sequence; D000818:Animals; D002135:Calcium-Binding Proteins / Q000235:genetics*; D017124:Conserved Sequence; D004331:Drosophila melanogaster / Q000196:embryology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020539:Sequence Analysis, Protein; D017385:Sequence Homology; D000074181:Spastin
chemical_list: D002135:Calcium-Binding Proteins; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human