Identification of the Drosophila melanogaster homolog of the human spastin gene

التفاصيل البيبلوغرافية
العنوان: Identification of the Drosophila melanogaster homolog of the human spastin gene
المؤلفون: Michael Stierwald, Jürg Spring, Heinrich Reichert, Jean-Marc Burgunder, Lars Kammermeier
المصدر: Development genes and evolution. 213(8)
سنة النشر: 2003
مصطلحات موضوعية: Spastin, Protein domain, Molecular Sequence Data, Sequence Homology, Locus (genetics), Biology, Gene product, Sequence Analysis, Protein, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Gene, Conserved Sequence, Adenosine Triphosphatases, Neurodegeneration, Calcium-Binding Proteins, medicine.disease, biology.organism_classification, Transmembrane domain, Drosophila melanogaster, Developmental Biology
الوصف: 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.
تدمد: 0949-944X
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d9aaf80ea400cf5c94b8eb238a6373Test
https://pubmed.ncbi.nlm.nih.gov/12908108Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....64d9aaf80ea400cf5c94b8eb238a6373
قاعدة البيانات: OpenAIRE