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

doi:10.1038/ng0594-79

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 journal › Article › peer-review

180 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 language	English
Pages (from-to)	79-84
Number of pages	6
Journal	Nature genetics
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/ng0594-79
Publication status	Published - 1994 May
Externally published	Yes

ASJC Scopus subject areas

Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/ng0594-79

Cite this

@article{80feea034de340c086e28bcbe0baed29,

title = "A null mutation in the human CNTF gene is not causally related to neurological diseases",

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.",

author = "Ryosuke Takahashi and Hidehiro Yokoji and Hidemi Misawa and Michiyuki Hayashi and Jianguo Hu and Takeo Deguchi",

year = "1994",

month = may,

doi = "10.1038/ng0594-79",

language = "English",

volume = "7",

pages = "79--84",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - A null mutation in the human CNTF gene is not causally related to neurological diseases

AU - Takahashi, Ryosuke

AU - Yokoji, Hidehiro

AU - Misawa, Hidemi

AU - Hayashi, Michiyuki

AU - Hu, Jianguo

AU - Deguchi, Takeo

PY - 1994/5

Y1 - 1994/5

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028021552&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028021552&partnerID=8YFLogxK

U2 - 10.1038/ng0594-79

DO - 10.1038/ng0594-79

M3 - Article

C2 - 8075647

AN - SCOPUS:0028021552

SN - 1061-4036

VL - 7

SP - 79

EP - 84

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

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

Abstract

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this