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.
authors.affiliation: Department of Neurology, Tokyo Metropolitan Institute for Neuroscience, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Yokoji
authors.forename: H
authors.initials: H
authors.lastname: Misawa
authors.forename: M
authors.initials: M
authors.lastname: Hayashi
authors.forename: J
authors.initials: J
authors.lastname: Hu
authors.forename: T
authors.initials: T
authors.lastname: Deguchi
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002478:Cells, Cultured; D020934:Ciliary Neurotrophic Factor; D018076:DNA, Complementary / Q000235:genetics; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D007438:Introns; D007564:Japan; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing
chemical_list: D020934:Ciliary Neurotrophic Factor; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins