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Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. We investigated a candidate gene and found that DRPLA patients had an expanded CAG trinucleotide repeat in a gene on the short arm of chromosome 12. The repeat(More)
Human T-cell leukemia virus type-1 (HTLV-1), a major source of adult T-cell leukemia and related diseases, is endemic to southwestern Japan. Mother-to-infant transmission via breast milk is an important route of infection, and establishing programs to prevent such transmission requires exact figures on the HTLV-1 prevalence rate and the number of carriers.(More)
Dentatorubral and pallidoluysian atrophy is associated with expansion of an unstable CAG repeat on chromosome 12p. We have determined the nucleotide sequences of overlapping cDNA clones and deduced the gene structure. The gene is ubiquitously expressed to form a single 4.5 kb transcript and encoded by an open reading frame of 1184 amino acids (aa), in which(More)
 Alleles of HLA-A, B, C, DRB1, DQB1, and DPB1 loci were fully determined in 117 healthy Japanese. A * 2402, A * 3303, A * 1101, A * 0201, B * 4403, B * 5201, Cw * 0102, Cw * 1403, Cw * 0304, Cw * 0702, Cw * 0801, and Cw * 1202 showed frequencies of over 10%. Multi-locus haplotype frequencies were estimated by the maximum likelihood method. Strength of(More)
A healthy adult having no serologically detectable HLA class I A locus antigens was identified. The parents of the individual are consanguineous. Results of a family study indicated that the individual is homozygous for the B46-Cw1-DR8.1 haplotype, which was shown to be positively associated with A *0207 in our previous study. The HLA-A null individual is(More)
 Polymorphism of the HLA-G gene in a Japanese population was investigated employing polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) analysis, PCR sequence-specific oligonucleotide (SSO) analysis, and DNA direct sequencing. Nucleotide sequence variations in exons 2, 3, and 4 of the HLA-G gene in 54 healthy Japanese individuals(More)
Human V alpha 24+ NKT cells with an invariant TCR (V alpha 24-J alpha Q) have been shown to be specifically activated by synthetic glycolipids such as alpha-galactosylceramide and alpha-glucosylceramide in a CD1d-restricted and V alpha 24 TCR-mediated manner. We recently characterized V alpha 24+ CD4- CD8- double negative (DN) NKT cells using(More)
HLA-A11 has two serologically-defined splits, A11.1 and A11.2, and two alleles coding for HLA-A11, A*1101 and A*1102, have been published so far. In order to understand the relationship between the serological subtypes and the amino acid sequences, we have sequenced the alleles coding for A11.1 and A11.2. The results demonstrated that A11.1 split antigen is(More)
Dentatorubral-pallidoluysian atrophy (DRPLA) is one of the hereditary neurodegenerative disorders caused by expansion of CAG/glutamine repeats. To investigate the normal function of the DRPLA gene and the pathogenic mechanism of neuron death in specific areas of the brain, we isolated and analyzed a gene that shares a notable motif with DRPLA,(More)
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder associated with the expansion of a CAG repeat at chromosome band 12p13. Epidemiological studies have demonstrated an increased prevalence of DRPLA in Japan, although several DRPLA kindreds of non-Japanese ancestry have been identified. To define the(More)