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Human Molecular Genetics Advance Access originally published online on October 1, 2008
Human Molecular Genetics 2009 18(1):97-104; doi:10.1093/hmg/ddn320
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© 2008 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan

Michael Briese1,{dagger}, Behrooz Esmaeili1,{dagger}, Sandrine Fraboulet1,2, Emma C. Burt1, Stefanos Christodoulou1, Paula R. Towers1, Kay E. Davies1 and David B. Sattelle1,*

1 MRC Functional Genomics Unit, Department of Physiology Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK 2 Institut des Neurosciences Grenoble, Centre de recherche Inserm U836-UJF-CEA-CHU, Université Joseph Fourier, Bâtiment Edmond J. Safra, Domaine de la Merci, 38706 La Tronche Cedex, France

* To whom correspondence should be addressed. Tel: +44 1865272145; Fax: +44 1865282651; Email: david.sattelle{at}dpag.ox.ac.uk

Received August 15, 2008; Accepted September 29, 2008

Spinal muscular atrophy is the most common genetic cause of infant mortality and is characterized by degeneration of lower motor neurons leading to muscle wasting. The causative gene has been identified as survival motor neuron (SMN). The invertebrate model organism Caenorhabditis elegans contains smn-1, the ortholog of human SMN. Caenorhabditis elegans smn-1 is expressed in various tissues including the nervous system and body wall muscle, and knockdown of smn-1 by RNA interference is embryonic lethal. Here we show that the smn-1(ok355) deletion, which removes most of smn-1 including the translation start site, produces a pleiotropic phenotype including late larval arrest, reduced lifespan, sterility as well as impaired locomotion and pharyngeal activity. Mutant nematodes develop to late larval stages due to maternal contribution of the smn-1 gene product that allows to study SMN-1 functions beyond embryogenesis. Neuronal, but not muscle-directed, expression of smn-1 partially rescues the smn-1(ok355) phenotype. Thus, the deletion mutant smn-1(ok355) provides a useful platform for functional analysis of an invertebrate ortholog of the human SMN protein.

{dagger} M.B. and B.E. contributed equally to the work.


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