Machado-Joseph disease gene products carrying different carboxyl termini.
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.
Goto
J
J
Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Japan.
Watanabe
M
M
Ichikawa
Y
Y
Yee
S B
SB
Ihara
N
N
Endo
K
K
Igarashi
S
S
Takiyama
Y
Y
Gaspar
C
C
Maciel
P
P
Tsuji
S
S
Rouleau
G A
GA
Kanazawa
I
I
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
D003062:Codon; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3