Literature DB >> 16602018

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Ashraf U Mannan1, Johann Boehm, Simone M Sauter, Anne Rauber, Paula C Byrne, Juergen Neesen, Wolfgang Engel.   

Abstract

Spastin, an ATPase belonging to the AAA family of proteins is most commonly mutated in autosomal dominant hereditary spastic paraplegias (HSP). Spastin is a multifaceted protein with versatile role in cellular events, principally involved in microtubule dynamics. To gain further insight into the molecular function of spastin, we used the yeast two-hybrid approach to identify novel interacting partners of spastin. Using spastin as bait, we identified reticulon 1 (RTN1) and reticulon 3 (RTN3) as potential spastin interacting proteins. RTN1 and RTN3 belong to the reticulon (RTN) gene family, which are primarily expressed in the endoplasmic reticulum. Moreover, RTN1 is known to play a role in vesicular transport processes. Using in vitro and in vivo immunoprecipitation experiments, we were able to demonstrate that RTN1 interacts specifically with spastin. Intracellular distribution studies using immunostaining and overexpression of epitope-tagged protein revealed an obvious colocalization of spastin and RTN1 in discrete vesicles in the cytoplasm. Spastin mediates its interaction with RTN1 through its N-terminal region containing a microtubule-interacting and trafficking domain. It is interesting to note that the aberrant intracellular distribution of a truncated spastin protein was rescued by coexpression with RTN1, which highlights the physiological significance of this interaction. Our findings strengthen the hypothesis that disruption of intracellular vesicular transport processes could cause HSP. It is interesting to note that RTN1 is localized to 14q23.1 where SPG15 locus was mapped. Therefore, we considered RTN1 as a candidate gene for the SPG15 locus, but our mutational analysis possibly excludes RTN1 as causative gene.

Entities:  

Mesh:

Substances:

Year:  2006        PMID: 16602018     DOI: 10.1007/s10048-006-0034-4

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


  55 in total

1.  Cloning of a novel member of the reticulon gene family (RTN3): gene structure and chromosomal localization to 11q13.

Authors:  E F Moreira; C J Jaworski; I R Rodriguez
Journal:  Genomics       Date:  1999-05-15       Impact factor: 5.736

2.  The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

Authors:  Evan Reid; James Connell; Thomas L Edwards; Simon Duley; Stephanie E Brown; Christopher M Sanderson
Journal:  Hum Mol Genet       Date:  2004-11-10       Impact factor: 6.150

3.  Improved method for high efficiency transformation of intact yeast cells.

Authors:  D Gietz; A St Jean; R A Woods; R H Schiestl
Journal:  Nucleic Acids Res       Date:  1992-03-25       Impact factor: 16.971

4.  Neuronal differentiation is accompanied by NSP-C expression.

Authors:  J Hens; R Nuydens; H Geerts; N H Senden; W J Van de Ven; A J Roebroek; H J van de Velde; F C Ramaekers; J L Broers
Journal:  Cell Tissue Res       Date:  1998-05       Impact factor: 5.249

5.  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

6.  Strümpell's familial spastic paraplegia: genetics and neuropathology.

Authors:  W M Behan; M Maia
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-01       Impact factor: 10.154

7.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

8.  A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Authors:  S Hadano; C K Hand; H Osuga; Y Yanagisawa; A Otomo; R S Devon; N Miyamoto; J Showguchi-Miyata; Y Okada; R Singaraja; D A Figlewicz; T Kwiatkowski; B A Hosler; T Sagie; J Skaug; J Nasir; R H Brown; S W Scherer; G A Rouleau; M R Hayden; J E Ikeda
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

9.  The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.

Authors:  Stephen B Wharton; Christopher J McDermott; Andrew J Grierson; Jonathan D Wood; Catherine Gelsthorpe; Paul G Ince; Pamela J Shaw
Journal:  J Neuropathol Exp Neurol       Date:  2003-11       Impact factor: 3.685

Review 10.  The hereditary spastic paraplegias: nine genes and counting.

Authors:  John K Fink
Journal:  Arch Neurol       Date:  2003-08
View more
  28 in total

Review 1.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

2.  Ascorbate peroxidase proximity labeling coupled with biochemical fractionation identifies promoters of endoplasmic reticulum-mitochondrial contacts.

Authors:  Il-Taeg Cho; Guillaume Adelmant; Youngshin Lim; Jarrod A Marto; Ginam Cho; Jeffrey A Golden
Journal:  J Biol Chem       Date:  2017-07-31       Impact factor: 5.157

3.  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

4.  Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

Authors:  Seong H Park; Peng-Peng Zhu; Rell L Parker; Craig Blackstone
Journal:  J Clin Invest       Date:  2010-04       Impact factor: 14.808

Review 5.  Hereditary spastic paraplegias: membrane traffic and the motor pathway.

Authors:  Craig Blackstone; Cahir J O'Kane; Evan Reid
Journal:  Nat Rev Neurosci       Date:  2011-01       Impact factor: 34.870

Review 6.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Authors:  Joanna M Solowska; Peter W Baas
Journal:  Brain       Date:  2015-06-20       Impact factor: 13.501

7.  Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

Authors:  Christian Beetz; Adam Johnson; Amber L Schuh; Seema Thakur; Rita-Eva Varga; Thomas Fothergill; Nicole Hertel; Ewa Bomba-Warczak; Holger Thiele; Gudrun Nürnberg; Janine Altmüller; Renu Saxena; Edwin R Chapman; Erik W Dent; Peter Nürnberg; Anjon Audhya
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-11       Impact factor: 11.205

8.  Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.

Authors:  Carl Julien; Alexandra Lissouba; Surya Madabattula; Yasmin Fardghassemi; Cory Rosenfelt; Alaura Androschuk; Joel Strautman; Clement Wong; Andrew Bysice; Julia O'sullivan; Guy A Rouleau; Pierre Drapeau; J Alex Parker; François V Bolduc
Journal:  Hum Mol Genet       Date:  2016-01-06       Impact factor: 6.150

9.  Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1.

Authors:  Yiting Liu; Svetlana Vidensky; Alicia M Ruggiero; Susanne Maier; Harald H Sitte; Jeffrey D Rothstein
Journal:  J Biol Chem       Date:  2007-12-20       Impact factor: 5.157

10.  Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.

Authors:  James W Connell; Catherine Lindon; J Paul Luzio; Evan Reid
Journal:  Traffic       Date:  2008-10-29       Impact factor: 6.215

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.