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

研究成果: Article査読

177 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)79-84
ページ数6
ジャーナルNature genetics
7
1
DOI
出版ステータスPublished - 1994 5月
外部発表はい

ASJC Scopus subject areas

  • 遺伝学

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