Hafezparast, M and Witherden, A and Nicholson, S and Bermingham, N and Mackin, J and ten Asbroek, A and Ball, S and Peters, J and Baas, F and Martin, JE and Fisher, EMC (1999) The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration. NEUROSCI LETT , 273 (1) 49 - 52.
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The underlying genetic cause is known for only 10-20% of familial motor neuron disease (MND). Thus the genes involved in the aetiology of 80-90% of familial MND remain to be determined, and animal models are powerful tools for undertaking this task. We have mapped a heritable form of motor neuron degeneration in the mouse to a region that has homology to human chromosome 14q32.1-qter. This region contains the kinesin light chain gene (KLC1), which is a candidate for involvement in motor neuron degeneration because of its function in the motor-protein kinesin, and its neuronal expression. To investigate the role of KLC1 in a mouse motor neuron degeneration mutant that we are studying, we have identified mouse Kid gene sequences and mapped them with respect to our mutant locus. We have also investigated KLC1 in human patients with familial MND. Based on recombination and the absence of mutations in the coding region of KLC1, this gene can be excluded as a candidate gene in our mouse mutation and, where we have investigated, it is normal in human familial MND. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.
|Title:||The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration|
|Keywords:||kinesin light chain, mouse kinesin light chain gene, motor neuron disease, motor neuron degeneration, AMYOTROPHIC-LATERAL-SCLEROSIS, BOVINE BRAIN KINESIN, SUPEROXIDE-DISMUTASE, HEAVY-CHAIN, IDENTIFICATION, ISOFORMS, PROTEINS, SEQUENCE|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Neurodegenerative Diseases|
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