Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

Vacuolar-vesicular protein sorting (Vps) factors are involved in vesicular trafficking in eukaryotic cells. We identified the missense mutation L967Q in Vps54 in the wobbler mouse, an animal model of amyotrophic lateral sclerosis, and also characterized a lethal allele, Vps54β-geo. Motoneuron surviv...

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Veröffentlicht in:	Nature genetics 2005-11, Vol.37 (11), p.1213-1215
Hauptverfasser:	Schmitt-John, Thomas, Drepper, Carsten, Mußmann, Anke, Hahn, Phillip, Kuhlmann, Melanie, Thiel, Cora, Hafner, Martin, Lengeling, Andreas, Heimann, Peter, Jones, Julie M, Meisler, Miriam H, Jockusch, Harald
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amyotrophic Lateral Sclerosis - genetics Animal models Animals Biological and medical sciences Cerebrospinal fluid. Meninges. Spinal cord Chromosomes, Artificial, Bacterial Cloning, Molecular Complications and side effects Diagnosis Female Fundamental and applied biological sciences. Psychology Gene mutations Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Male Medical sciences Mice Mice, Inbred C57BL Mice, Neurologic Mutants Mice, Transgenic Molecular Sequence Data Motor Neuron Disease - genetics Motor Neuron Disease - pathology Mutation Mutation, Missense - genetics Nervous system (semeiology, syndromes) Neurology Risk factors Sequence Homology, Amino Acid Spermatogenesis - genetics Vesicular Transport Proteins - genetics
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Zusammenfassung:	Vacuolar-vesicular protein sorting (Vps) factors are involved in vesicular trafficking in eukaryotic cells. We identified the missense mutation L967Q in Vps54 in the wobbler mouse, an animal model of amyotrophic lateral sclerosis, and also characterized a lethal allele, Vps54β-geo. Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse, indicating that Vps54 has an essential role in these processes.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1661