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Human Molecular Genetics Advance Access published online on October 1, 2008
Human Molecular Genetics, 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 orthologue of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan

Michael Briese#, Behrooz Esmaeili#, Sandrine Fraboulet, Emma C. Burt, Stefanos Christodoulou, Paula R. Towers, Kay E. Davies and David B. Sattelle*

MRC Functional Genetics Unit, Department of Physiology Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK

* Author for correspondence: David B. Sattelle, MRC Functional Genetics Unit, Department of Physiology Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3Q, Tel: +44 (0) 1865 272 145, Fax +44 (0) 1865 282 651, Email: david.sattelle{at}dpag.ox.ac.uk

Received August 15, 2008; Revised September 29, 2008; Accepted September 29, 2008

Spinal muscular atrophy (SMA) 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 orthologue of human SMN. C. 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 which 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 orthologue of the human SMN protein.

# These authors contributed equally to the work.


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