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Human Molecular Genetics Advance Access originally published online on June 16, 2008
Human Molecular Genetics 2008 17(17):2691-2702; doi:10.1093/hmg/ddn171
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish

Francois Gros-Louis1,2, Jasna Kriz2, Edor Kabashi1,3, Jonathan McDearmid3, Stéphanie Millecamps2, Makoto Urushitani2, Li Lin3, Patrick Dion1, Qinzhang Zhu4, Pierre Drapeau3, Jean-Pierre Julien2 and Guy A. Rouleau1,*

1 Center for Excellence in Neuromics, CHUM Research Center and the Department of Medicine, University of Montreal, Montreal, QC, Canada 2 Research Centre of CHUL (CHUQ), Department of Anatomy and Physiology, Laval University, Quebec, QC, Canada 3 Department of Pathology and Cell Biology and Groupe de recherche sur le système nerveux central, Université de Montréal, Montréal, QC, Canada 4 Institut de recherches cliniques de Montréal, Montréal, QC, Canada

* To whom correspondence should be addressed at: Ste-Justine Hospital Research Center and The Center for Excellence in Neuromics 1560, rue Sherbrooke est, Y-3633 Montreal, QC, Canada H2L 4M1. Tel: +1 5143454740/5148908000 Ext. 24699; Fax: +1 5143454698/5144127602; Email: guy.rouleau{at}umontreal.ca

Received January 23, 2008; Accepted June 6, 2008

Recessive ALS2 mutations are linked to three related but slightly different neurodegenerative disorders: amyotrophic lateral sclerosis, hereditary spastic paraplegia and primary lateral sclerosis. To investigate the function of the ALS2 encoded protein, we generated Als2 knock-out (KO) mice and zAls2 knock-down zebrafish. The Als2–/– mice lacking exon 2 and part of exon 3 developed mild signs of neurodegeneration compatible with axonal transport deficiency. In contrast, zAls2 knock-down zebrafish had severe developmental abnormalities, swimming deficits and motor neuron perturbation. We identified, by RT–PCR, northern and western blotting novel Als2 transcripts in mouse central nervous system. These Als2 transcripts were present in Als2 null mice as well as in wild-type littermates and some rescued the zebrafish phenotype. Thus, we speculate that the newly identified Als2 mRNA species prevent the Als2 KO mice from developing severe neurodegenerative disease and might also regulate the severity of the motor neurons phenotype observed in ALS2 patients.


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