The Journal of Cell Biology, Vol 121, 387-395, Copyright © 1993 by The Rockefeller University Press

ARTICLES

Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene

O Ohara, Y Gahara, T Miyake, H Teraoka and T Kitamura
Shionogi Research Laboratories, Shionogi & Co., Ltd., Osaka, Japan.

The existence of a neurofilament-deficient mutant of Japanese quail was recently documented (Yamasaki, H., C. Itakura, and M. Mizutani. 1991. Acta Neuropathol. 82:427-434), but the genetic events leading to the neurofilament deficiency have yet to be determined. Our molecular biological analyses revealed that the expression of neurofilament-L (NF- L) gene was specifically repressed in neurons of this mutant. To search for mutation(s) responsible for the shutdown of this gene expression, we cloned and sequenced the NF-L genes in the wild-type and mutant quails. It is eventually found that the NF-L gene in the mutant includes a nonsense mutation at the deduced amino acid residue 114, indicating that the mutant is incapable of producing even a trace amount of polymerization-competent NF-L protein at any situation. The identification of this nonsense mutation provides us with a solid basis on which molecular mechanisms underlying the alteration in the neuronal cytoskeletal architecture in the mutant should be interpreted.
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