Identification of the Drosophila melanogaster homolog of the human spastin gene

被引:21
作者
Kammermeier, L
Spring, J
Stierwald, M
Burgunder, JM
Reichert, H
机构
[1] Univ Basel, Inst Zool, Biozentrum, Pharmazentrum, CH-4056 Basel, Switzerland
[2] Natl Univ Singapore, Singapore 308433, Singapore
[3] Natl Inst Neurosci, Singapore 308433, Singapore
关键词
Drosophila melanogaster; spastin; AAA domain; embryonic CNS;
D O I
10.1007/s00427-003-0340-x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
引用
收藏
页码:412 / 415
页数:4
相关论文
共 12 条
[1]   The genome sequence of Drosophila melanogaster [J].
Adams, MD ;
Celniker, SE ;
Holt, RA ;
Evans, CA ;
Gocayne, JD ;
Amanatides, PG ;
Scherer, SE ;
Li, PW ;
Hoskins, RA ;
Galle, RF ;
George, RA ;
Lewis, SE ;
Richards, S ;
Ashburner, M ;
Henderson, SN ;
Sutton, GG ;
Wortman, JR ;
Yandell, MD ;
Zhang, Q ;
Chen, LX ;
Brandon, RC ;
Rogers, YHC ;
Blazej, RG ;
Champe, M ;
Pfeiffer, BD ;
Wan, KH ;
Doyle, C ;
Baxter, EG ;
Helt, G ;
Nelson, CR ;
Miklos, GLG ;
Abril, JF ;
Agbayani, A ;
An, HJ ;
Andrews-Pfannkoch, C ;
Baldwin, D ;
Ballew, RM ;
Basu, A ;
Baxendale, J ;
Bayraktaroglu, L ;
Beasley, EM ;
Beeson, KY ;
Benos, PV ;
Berman, BP ;
Bhandari, D ;
Bolshakov, S ;
Borkova, D ;
Botchan, MR ;
Bouck, J ;
Brokstein, P .
SCIENCE, 2000, 287 (5461) :2185-2195
[2]  
Campos-Ortega JA, 1997, EMBRYONIC DEV DROSOP
[3]   Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].
Casari, G ;
De Fusco, M ;
Ciarmatori, S ;
Zeviani, M ;
Mora, M ;
Fernandez, P ;
De Michele, G ;
Filla, A ;
Cocozza, S ;
Marconi, R ;
Dürr, A ;
Fontaine, B ;
Ballabio, A .
CELL, 1998, 93 (06) :973-983
[4]   Molecular basis of inherited spastic paraplegias [J].
Casari, G ;
Rugarli, E .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2001, 11 (03) :336-342
[5]   Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus [J].
Charvin, D ;
Cifuentes-Diaz, C ;
Fonknechten, N ;
Joshi, V ;
Hazan, J ;
Melki, J ;
Betuing, S .
HUMAN MOLECULAR GENETICS, 2003, 12 (01) :71-78
[6]   The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia [J].
Ciccarelli, FD ;
Proukakis, C ;
Patel, H ;
Cross, H ;
Azam, S ;
Patton, MA ;
Bork, P ;
Crosby, AH .
GENOMICS, 2003, 81 (04) :437-441
[7]   The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development [J].
Cox, GA ;
Mahaffey, CL ;
Nystuen, A ;
Letts, VA ;
Frankel, WN .
NATURE GENETICS, 2000, 26 (02) :198-202
[8]   Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics [J].
Errico, A ;
Ballabio, A ;
Rugarli, EI .
HUMAN MOLECULAR GENETICS, 2002, 11 (02) :153-163
[9]   Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia [J].
Hazan, J ;
Fonknechten, N ;
Mavel, D ;
Paternotte, C ;
Samson, D ;
Artiguenave, F ;
Davoine, CS ;
Cruaud, C ;
Dürr, A ;
Wincker, P ;
Brottier, P ;
Cattolico, L ;
Barbe, V ;
Burgunder, JM ;
Prud'homme, JF ;
Brice, A ;
Fontaine, B ;
Heilig, R ;
Weissenbach, J .
NATURE GENETICS, 1999, 23 (03) :296-303
[10]   Recent improvements to the SMART domain-based sequence annotation resource [J].
Letunic, I ;
Goodstadt, L ;
Dickens, NJ ;
Doerks, T ;
Schultz, J ;
Mott, R ;
Ciccarelli, F ;
Copley, RR ;
Ponting, CP ;
Bork, P .
NUCLEIC ACIDS RESEARCH, 2002, 30 (01) :242-244