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

Ryosuke Takahashi, Hidehiro Yokoji, Hidemi Misawa, Michiyuki Hayashi, Jianguo Hu, Takeo Deguchi

Research output: Contribution to journalArticle

172 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalNature genetics
Volume7
Issue number1
DOIs
Publication statusPublished - 1994 May
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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