Identification of the Drosophila melanogaster homolog of the human spastin gene
Identification of the Drosophila melanogaster homolog of the human spastin gene
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DOI：
10.1007/s00427-003-0340-x
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发表时间：
2003-08-01
影响因子：
2.4
通讯作者：
Reichert, H
中科院分区：
文献类型：
--
作者：
Kammermeier, L;Spring, J;Reichert, H
人类SPG4基因座编码spastin基因，该基因与常染色体显性遗传性痉挛截瘫(AD-HSP)有关，AD-HSP是一种神经退行性疾病。在这里，我们确定预测的基因产物CG5977是人类spastin基因的果蝇同源物，与果蝇中任何其他相关的AAA结构域蛋白相比，序列相似性要高得多。此外，我们还报道了在这两个同源蛋白的N端有一个新的潜在跨膜结构域。在胚胎发育过程中，果蝇spastin的表达模式主要局限于中枢神经系统，而脊椎动物spastin基因的表达无处不在。鉴于这种神经系统特异性表达，确定果蝇spastin功能丧失突变是否也会导致神经退化将是重要的。
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.