title: Machado-Joseph disease gene products carrying different carboxyl termini.
abstract: Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isolated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in the translated product. The nucleotide sequence of the other one is similar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change from the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C). Genetic analysis results suggest that Japanese MJD mutations are associated with allele A.
authors.affiliation: Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Goto
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Ichikawa
authors.forename: S B
authors.initials: SB
authors.lastname: Yee
authors.forename: N
authors.initials: N
authors.lastname: Ihara
authors.forename: K
authors.initials: K
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Igarashi
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
authors.forename: C
authors.initials: C
authors.lastname: Gaspar
authors.forename: P
authors.initials: P
authors.lastname: Maciel
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000595:Amino Acid Sequence; D000067699:Ataxin-3; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D011110:Polymorphism, Genetic; D012097:Repressor Proteins
chemical_list: D003062:Codon; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3