MACHADO-JOSEPH-DISEASE GENE-PRODUCTS CARRYING DIFFERENT CARBOXYL TERMINI

Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isol ated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in th e translated product. The nucleotide sequence of the other one is simi lar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change fr om the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C ). Genetic analysis results suggest that Japanese MJD mutations are as sociated with allele A. (C) 1997 Elsevier Science Ireland Ltd.