title: Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene.
abstract: 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.
authors: Shionogi Research Laboratories, Shionogi & Co., Ltd., Osaka, Japan.
authors: O
authors: O
authors: Ohara
authors: Y
authors: Y
authors: Gahara
authors: T
authors: T
authors: Miyake
authors: H
authors: H
authors: Teraoka
authors: T
authors: T
authors: Kitamura
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003370:Coturnix / Q000235:genetics*; D005786:Gene Expression Regulation; D017403:In Situ Hybridization; D007382:Intermediate Filaments / Q000737:chemistry; D008969:Molecular Sequence Data; D009154:Mutation; D016900:Neurofilament Proteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D015347:RNA Probes; D014404:Tubulin / Q000096:biosynthesis
chemical_list: D016900:Neurofilament Proteins; D015347:RNA Probes; D014404:Tubulin; C044882:neurofilament protein L