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Published 25 November 2002. doi:10.1083/jcb.200208001
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© The Rockefeller University Press, 0021-9525/2002/11/563 $5.00
The Journal of Cell Biology, Volume 159, Number 4, 563-569

Report

 Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease

Heike Bömmel1, Gang Xie1, Wilfried Rossoll1, Stefan Wiese1, Sibylle Jablonka1, Thomas Boehm2 and Michael Sendtner1

1 Institute of Clinical Neurobiology, University of Würzburg, 97080 Würzburg, Germany
2 Max-Planck-Institute for Immunobiology, 79108 Freiburg, Germany

Address correspondence to Michael Sendtner, Institute of Clinical Neurobiology, University of Würzburg, Josef-Schneider-Strasse 11, 97080 Würzburg, Germany. Tel.: 1149-931-201-49767. Fax: 1149-931-201-49788. E-mail: sendtner{at}mail.uni-wuerzburg.de

Progressive motor neuronopathy (pmn) mutant mice have been widely used as a model for human motoneuron disease. Mice that are homozygous for the pmn gene defect appear healthy at birth but develop progressive motoneuron disease, resulting in severe skeletal muscle weakness and respiratory failure by postnatal week 3. The disease starts at the motor endplates, and then leads to axonal loss and finally to apoptosis of the corresponding cell bodies. We localized the genetic defect in pmn mice to a missense mutation in the tubulin-specific chaperone E (Tbce) gene on mouse chromosome 13. The human orthologue maps to chromosome 1q42.3. The Tbce gene encodes a protein (cofactor E) that is essential for the formation of primary {alpha}-tubulin and ß-tubulin heterodimeric complexes. Isolated motoneurons from pmn mutant mice exhibit shorter axons and axonal swelling with irregularly structured ß-tubulin and tau immunoreactivity. Thus, the pmn gene mutation provides the first genetic evidence that alterations in tubulin assembly lead to retrograde degeneration of motor axons, ultimately resulting in motoneuron cell death.

Key Words: pmn; motoneuron disease; tubulin; tubulin-specific chaperone E; motor axon


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