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.
Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene.
O Ohara, Y Gahara, T Miyake, H Teraoka, T Kitamura; Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene.. J Cell Biol 15 April 1993; 121 (2): 387–395. doi: https://doi.org/10.1083/jcb.121.2.387
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