Literature DB >> 12091709

Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.

Sibylle Jablonka1, Bettina Holtmann, Gunter Meister, Michael Bandilla, Wilfried Rossoll, Utz Fischer, Michael Sendtner.   

Abstract

Neuronal degeneration in spinal muscular atrophy is caused by reduced expression of the survival motor neuron (SMN) protein. SMN and the tightly interacting Gemin2 form part of a macromolecular complex (SMN complex) that mediates assembly of spliceosomal small nuclear ribonucleoproteins (U snRNPs). We used mouse genetics to investigate the function of this complex in motoneuron maintenance. Reduced Smn/Gemin2 protein levels lead to disturbed U snRNP assembly as indicated by reduced nuclear accumulation of Sm proteins. This finding correlates with enhanced motoneuron degeneration in Gemin2(+/-)/Smn(+/-) mice. Our data provide in vivo evidence that impaired production of U snRNPs contributes to motoneuron degeneration.

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Year:  2002        PMID： 12091709      PMCID： PMC126635          DOI： 10.1073/pnas.152318699

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  33 in total

1.  The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Authors:  U R Monani; M Sendtner; D D Coovert; D W Parsons; C Andreassi; T T Le; S Jablonka; B Schrank; W Rossoll; W Rossol; T W Prior; G E Morris; A H Burghes
Journal:  Hum Mol Genet       Date:  2000-02-12       Impact factor: 6.150

2.  Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.

Authors:  S Jablonka; B Schrank; M Kralewski; W Rossoll; M Sendtner
Journal:  Hum Mol Genet       Date:  2000-02-12       Impact factor: 6.150

3.  The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.

Authors:  U Fischer; Q Liu; G Dreyfuss
Journal:  Cell       Date:  1997-09-19       Impact factor: 41.582

4.  The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

Authors:  I Miguel-Aliaga; E Culetto; D S Walker; H A Baylis; D B Sattelle; K E Davies
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

5.  A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.

Authors:  C L Lorson; E Hahnen; E J Androphy; B Wirth
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

Review 6.  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Authors:  B Wirth
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

7.  Comparative sequence analysis of the mouse and human Lgn1/SMA interval.

Authors:  M Endrizzi; S Huang; J M Scharf; A R Kelter; B Wirth; L M Kunkel; W Miller; W F Dietrich
Journal:  Genomics       Date:  1999-09-01       Impact factor: 5.736

8.  A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.

Authors:  L Pellizzoni; N Kataoka; B Charroux; G Dreyfuss
Journal:  Cell       Date:  1998-11-25       Impact factor: 41.582

9.  Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli.

Authors:  B Charroux; L Pellizzoni; R A Perkinson; J Yong; A Shevchenko; M Mann; G Dreyfuss
Journal:  J Cell Biol       Date:  2000-03-20       Impact factor: 10.539

10.  Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.

Authors:  B Charroux; L Pellizzoni; R A Perkinson; A Shevchenko; M Mann; G Dreyfuss
Journal:  J Cell Biol       Date:  1999-12-13       Impact factor: 10.539
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  36 in total

1.  Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

Authors:  Karl B Shpargel; A Gregory Matera
Journal:  Proc Natl Acad Sci U S A       Date:  2005-11-21       Impact factor: 11.205

2.  Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.

Authors:  Christoph Winkler; Christian Eggert; Dietmar Gradl; Gunter Meister; Marieke Giegerich; Doris Wedlich; Bernhard Laggerbauer; Utz Fischer
Journal:  Genes Dev       Date:  2005-10-01       Impact factor: 11.361

3.  The spliceosome assembly factor GEMIN2 attenuates the effects of temperature on alternative splicing and circadian rhythms.

Authors:  Rubén Gustavo Schlaen; Estefanía Mancini; Sabrina Elena Sanchez; Soledad Perez-Santángelo; Matías L Rugnone; Craig G Simpson; John W S Brown; Xu Zhang; Ariel Chernomoretz; Marcelo J Yanovsky
Journal:  Proc Natl Acad Sci U S A       Date:  2015-07-13       Impact factor: 11.205

4.  A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation.

Authors:  Wuhong Pei; Lisha Xu; Zelin Chen; Claire C Slevin; Kade P Pettie; Stephen Wincovitch; Shawn M Burgess
Journal:  NPJ Regen Med       Date:  2020-03-25

5.  Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons.

Authors:  Honglai Zhang; Lei Xing; Wilfried Rossoll; Hynek Wichterle; Robert H Singer; Gary J Bassell
Journal:  J Neurosci       Date:  2006-08-16       Impact factor: 6.167

6.  A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy.

Authors:  Matteo Ruggiu; Vicki L McGovern; Francesco Lotti; Luciano Saieva; Darrick K Li; Shingo Kariya; Umrao R Monani; Arthur H M Burghes; Livio Pellizzoni
Journal:  Mol Cell Biol       Date:  2011-10-28       Impact factor: 4.272

7.  Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy.

Authors:  Qods Ymlahi-Ouazzani; Odile J Bronchain; Elodie Paillard; Chantal Ballagny; Albert Chesneau; Aurélie Jadaud; André Mazabraud; Nicolas Pollet
Journal:  Neurogenetics       Date:  2009-06-11       Impact factor: 2.660

8.  Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron.

Authors:  John Mouaikel; Usha Narayanan; Céline Verheggen; A Gregory Matera; Edouard Bertrand; Jamal Tazi; Rémy Bordonné
Journal:  EMBO Rep       Date:  2003-06       Impact factor: 8.807

9.  In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression.

Authors:  A Rashnonejad; C Gündüz; S Y Süslüer; H Onay; B Durmaz; M Bandehpour; F Özkınay
Journal:  Gene Ther       Date:  2015-09-02       Impact factor: 5.250

10.  Reduced viability, fertility and fecundity in mice lacking the cajal body marker protein, coilin.

Authors:  Michael P Walker; Liping Tian; A Gregory Matera
Journal:  PLoS One       Date:  2009-07-09       Impact factor: 3.240
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