Literature DB >> 12908108

Identification of the Drosophila melanogaster homolog of the human spastin gene.

Lars Kammermeier1, Jürg Spring, Michael Stierwald, Jean-Marc Burgunder, Heinrich Reichert.   

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.

Entities:  

Mesh:

Substances:

Year:  2003        PMID: 12908108     DOI: 10.1007/s00427-003-0340-x

Source DB:  PubMed          Journal:  Dev Genes Evol        ISSN: 0949-944X            Impact factor:   0.900


  11 in total

1.  The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Authors:  Francesca D Ciccarelli; Christos Proukakis; Heema Patel; Harold Cross; Shakil Azam; Michael A Patton; Peer Bork; Andrew H Crosby
Journal:  Genomics       Date:  2003-04       Impact factor: 5.736

2.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

3.  A non-radioactive in situ hybridization method for the localization of specific RNAs in Drosophila embryos reveals translational control of the segmentation gene hunchback.

Authors:  D Tautz; C Pfeifle
Journal:  Chromosoma       Date:  1989-08       Impact factor: 4.316

4.  The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development.

Authors:  G A Cox; C L Mahaffey; A Nystuen; V A Letts; W N Frankel
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

5.  SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Authors:  Heema Patel; Harold Cross; Christos Proukakis; Ruth Hershberger; Peer Bork; Francesca D Ciccarelli; Michael A Patton; Victor A McKusick; Andrew H Crosby
Journal:  Nat Genet       Date:  2002-07-22       Impact factor: 38.330

6.  Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.

Authors:  Delphine Charvin; Carmen Cifuentes-Diaz; Nuria Fonknechten; Vandana Joshi; Jamilé Hazan; Judith Melki; Sandrine Betuing
Journal:  Hum Mol Genet       Date:  2003-01-01       Impact factor: 6.150

Review 7.  Molecular basis of inherited spastic paraplegias.

Authors:  G Casari; E Rugarli
Journal:  Curr Opin Genet Dev       Date:  2001-06       Impact factor: 5.578

8.  Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

Authors:  Alessia Errico; Andrea Ballabio; Elena I Rugarli
Journal:  Hum Mol Genet       Date:  2002-01-15       Impact factor: 6.150

9.  The genome sequence of Drosophila melanogaster.

Authors:  M D Adams; S E Celniker; R A Holt; C A Evans; J D Gocayne; P G Amanatides; S E Scherer; P W Li; R A Hoskins; R F Galle; R A George; S E Lewis; S Richards; M Ashburner; S N Henderson; G G Sutton; J R Wortman; M D Yandell; Q Zhang; L X Chen; R C Brandon; Y H Rogers; R G Blazej; M Champe; B D Pfeiffer; K H Wan; C Doyle; E G Baxter; G Helt; C R Nelson; G L Gabor; J F Abril; A Agbayani; H J An; C Andrews-Pfannkoch; D Baldwin; R M Ballew; A Basu; J Baxendale; L Bayraktaroglu; E M Beasley; K Y Beeson; P V Benos; B P Berman; D Bhandari; S Bolshakov; D Borkova; M R Botchan; J Bouck; P Brokstein; P Brottier; K C Burtis; D A Busam; H Butler; E Cadieu; A Center; I Chandra; J M Cherry; S Cawley; C Dahlke; L B Davenport; P Davies; B de Pablos; A Delcher; Z Deng; A D Mays; I Dew; S M Dietz; K Dodson; L E Doup; M Downes; S Dugan-Rocha; B C Dunkov; P Dunn; K J Durbin; C C Evangelista; C Ferraz; S Ferriera; W Fleischmann; C Fosler; A E Gabrielian; N S Garg; W M Gelbart; K Glasser; A Glodek; F Gong; J H Gorrell; Z Gu; P Guan; M Harris; N L Harris; D Harvey; T J Heiman; J R Hernandez; J Houck; D Hostin; K A Houston; T J Howland; M H Wei; C Ibegwam; M Jalali; F Kalush; G H Karpen; Z Ke; J A Kennison; K A Ketchum; B E Kimmel; C D Kodira; C Kraft; S Kravitz; D Kulp; Z Lai; P Lasko; Y Lei; A A Levitsky; J Li; Z Li; Y Liang; X Lin; X Liu; B Mattei; T C McIntosh; M P McLeod; D McPherson; G Merkulov; N V Milshina; C Mobarry; J Morris; A Moshrefi; S M Mount; M Moy; B Murphy; L Murphy; D M Muzny; D L Nelson; D R Nelson; K A Nelson; K Nixon; D R Nusskern; J M Pacleb; M Palazzolo; G S Pittman; S Pan; J Pollard; V Puri; M G Reese; K Reinert; K Remington; R D Saunders; F Scheeler; H Shen; B C Shue; I Sidén-Kiamos; M Simpson; M P Skupski; T Smith; E Spier; A C Spradling; M Stapleton; R Strong; E Sun; R Svirskas; C Tector; R Turner; E Venter; A H Wang; X Wang; Z Y Wang; D A Wassarman; G M Weinstock; J Weissenbach; S M Williams; K C Worley; D Wu; S Yang; Q A Yao; J Ye; R F Yeh; J S Zaveri; M Zhan; G Zhang; Q Zhao; L Zheng; X H Zheng; F N Zhong; W Zhong; X Zhou; S Zhu; X Zhu; H O Smith; R A Gibbs; E W Myers; G M Rubin; J C Venter
Journal:  Science       Date:  2000-03-24       Impact factor: 47.728

10.  Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Authors:  G Casari; M De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; G De Michele; A Filla; S Cocozza; R Marconi; A Dürr; B Fontaine; A Ballabio
Journal:  Cell       Date:  1998-06-12       Impact factor: 41.582

View more
  10 in total

1.  Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.

Authors:  Emily F Ozdowski; Sophia Gayle; Hong Bao; Bing Zhang; Nina T Sherwood
Journal:  Genetics       Date:  2011-07-29       Impact factor: 4.562

2.  Role of spastin in apical domain control along the rhabdomere elongation in Drosophila photoreceptor.

Authors:  Geng Chen; Garrett P League; Sang-Chul Nam
Journal:  PLoS One       Date:  2010-03-03       Impact factor: 3.240

Review 3.  Drosophila melanogaster in the study of human neurodegeneration.

Authors:  Frank Hirth
Journal:  CNS Neurol Disord Drug Targets       Date:  2010-08       Impact factor: 4.388

4.  Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function.

Authors:  Nina Tang Sherwood; Qi Sun; Mingshan Xue; Bing Zhang; Kai Zinn
Journal:  PLoS Biol       Date:  2004-11-30       Impact factor: 8.029

5.  Spastin binds to lipid droplets and affects lipid metabolism.

Authors:  Chrisovalantis Papadopoulos; Genny Orso; Giuseppe Mancuso; Marija Herholz; Sentiljana Gumeni; Nimesha Tadepalle; Christian Jüngst; Anne Tzschichholz; Astrid Schauss; Stefan Höning; Aleksandra Trifunovic; Andrea Daga; Elena I Rugarli
Journal:  PLoS Genet       Date:  2015-04-13       Impact factor: 5.917

6.  Isoform-specific functions of Mud/NuMA mediate binucleation of Drosophila male accessory gland cells.

Authors:  Kiichiro Taniguchi; Akihiko Kokuryo; Takao Imano; Ryunosuke Minami; Hideki Nakagoshi; Takashi Adachi-Yamada
Journal:  BMC Dev Biol       Date:  2014-12-20       Impact factor: 1.978

7.  Scaling of cytoskeletal organization with cell size in Drosophila.

Authors:  Alison K Spencer; Andrew J Schaumberg; Jennifer A Zallen
Journal:  Mol Biol Cell       Date:  2017-04-12       Impact factor: 4.138

8.  Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.

Authors:  Genny Orso; Andrea Martinuzzi; Maria Giovanna Rossetto; Elena Sartori; Mel Feany; Andrea Daga
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

9.  Three microtubule severing enzymes contribute to the "Pacman-flux" machinery that moves chromosomes.

Authors:  Dong Zhang; Gregory C Rogers; Daniel W Buster; David J Sharp
Journal:  J Cell Biol       Date:  2007-04-23       Impact factor: 10.539

Review 10.  The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic Paraplegias.

Authors:  Felipe J Bodaleo; Christian Gonzalez-Billault
Journal:  Front Mol Neurosci       Date:  2016-07-25       Impact factor: 5.639

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.