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A null mutation in the human CNTF gene is not causally related to neurological diseases

Nature Genetics volume 7, pages 79–84 (1994)Cite this article

An Erratum to this article was published on 01 June 1994

Abstract

We report a null mutation in the human ciliary neurotrophic factor gene (CNTF). The mutated allele shows a G to A transition producing a new splice acceptor site and the resulting mRNA species codes for an aberrant protein. Analysis of tissue samples and transfection of CNTF minigenes into cultured cells demonstrates that the mutated allele expresses only the mutated mRNA species. In 391 Japanese people tested, 61.9% were normal homozygotes, 35.8% heterozygotes and 2.3% mutant homozygotes. The distribution of the three genotypes is similar in healthy and neurological disease subjects, indicating that human CNTF deficiency is not causally related to neurological diseases.

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Authors and Affiliations

  1. Department of Neurology, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashidai, Fuchu City, Tokyo, 183, Japan

    Ryosuke Takahashi, Hidemi Misawa & Takeo Deguchi

  2. Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu City, Tokyo, 183, Japan

    Hidehiro Yokoji & Michiyuki Hayashi

  3. Research & Development Center, BML, Inc., 1361-1 Matoba, Kawagoe City, Saitama, 350, Japan

    Jianguo Hu & Takeo Deguchi

Authors
  1. Ryosuke Takahashi
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  4. Michiyuki Hayashi
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Takahashi, R., Yokoji, H., Misawa, H. et al. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nat Genet 7, 79–84 (1994). https://doi.org/10.1038/ng0594-79

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