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  • 1
    Electronic Resource
    Electronic Resource
    Narcolepsy and HLA in the Japanese (1988)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 540 (1988), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1988.tb27056.x
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  • 2
    Electronic Resource
    Electronic Resource
    Crystallization and preliminary diffraction studies of the extracellular region of human p58 killer cell inhibitory receptor (KIR2) (1998)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 54 (1998), S. 433-435 
    Details
    ISSN: 1399-0047
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: Molecules of the human killer cell inhibitory receptor (KIR) family, which belong to the immunoglobulin superfamily (IgSF), are expressed on the surface of natural killer (NK) cells and some subsets of T cells. These receptors function to mediate the inhibition or activation of cytotoxic activity by recognizing HLA class I molecules on the target cell. The extracellular region of a p58 KIR specific for HLA-Cw1,3,7 (KIR2) has been overproduced in Escherichia coli and purified. The recombinant KIR2 has been crystallized in 9–10% poly(ethylene glycol) methyl ether (average Mr = 8000), 50mM HEPES, 8% ethylene glycol, 0.5% octyl-β-glucoside, pH 7.5, at 294 K using the sitting-drop vapour-diffusion method. Preliminary X-ray diffraction studies reveal the space group to be hexagonal (P6122 or P6522) with lattice constants a = b = 95.3, c = 130.8 Å. A native data set (3 Å resolution) has been collected at the Photon Factory (λ = 1.0 Å).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0907444997012201
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  • 3
    Electronic Resource
    Electronic Resource
    Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy (2000)
    Springer
    Immunogenetics 52 (2000), S. 12-18 
    Details
    ISSN: 1432-1211
    Keywords: Human narcolepsy Chromosome recombination Recombination breakpoint Susceptibility region
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We report on a study performed to determine a boundary of the region with the potential to contribute to the predisposition to human narcolepsy (the susceptibility region) in the human leukocyte antigen (HLA) region. We investigated a Japanese narcolepsy family, in which a de novo chromosomal recombination occurred between the HLA-DRB1 and HLA-B genes in the proband. The recombinant chromosome carrying HLA-DRB1*1501 was transmitted to the affected child and grandchild, suggesting that a strong genetic factor(s) predisposing to the disorder was (were) present on the chromosome, and that the recombination breakpoint could be regarded as a boundary to the susceptibility region. To search for the breakpoint, we carried out allele typing at various polymorphic sites, e.g., microsatellite repeat polymorphisms, restriction fragment length polymorphisms, and single-nucleotide polymorphisms in the HLA region, and examined haplotypes with the polymorphic sites in the family members. Haplotype analyses revealed that the recombination breakpoint was present ~50 kb to the telomeric side of the palmitoyl-protein thioesterase-2 (PPT2) gene in the HLA class III region. From the gene map of the HLA region, the cyclic AMP response element-binding protein-related protein gene (CREB-RP) appeared to be located at the telomeric end in the 50-kb region. Therefore, the data presented here suggest that the susceptibility region for the disorder in the family is present on the centromeric side of the CREB-RP gene in the recombinant Chromosome 6 carrying HLA-DRB1*1501.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510000245
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  • 4
    Electronic Resource
    Electronic Resource
    Haplotype analysis of the linkage group HLA-A: HLA-B: Bf in Japanese (1979)
    Springer
    Human genetics 〈Berlin〉 51 (1979), S. 307-314 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three hundred four HLA-A: HLA-B: Bf haplotypes of the Japanese population as deduced by family analysis are described. Several linkage disequilibriums were observed in the following two-factor haplotypes: HLA-A and HLA-B, HLA-A and Bf, and HLA-B and Bf. Positive linkage disequilibriums between HLA-A and HLA-B noted in the present study seem to be Japanese specific when compared with the results obtained from other ethnic groups reported so far. The striking finding is that three HLA-B: Bf haplotypes, namely B12-Bf F , B15-Bf F ,and B7-Bf S ,are common and show linkage disequilibrium in both Japanese and European Caucasians (German). This finding not only confirms the proximity of the HLA-B and Bf loci but also suggests that the interaction of the two genes plays an important role in the maintenance of stable linkage disequilibrium.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283399
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  • 5
    Electronic Resource
    Electronic Resource
    Polymorphism of BF, C2, and GLO in Japanese patients with insulin-dependent diabetes mellitus: Confirmation of an increase of BF *FT (1982)
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 86-88 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution of phenotypes controlled by three HLA-linked loci BF, C2, and GLO has been studied in Japanese patients with insulin-dependent diabetes mellitus (IDDM). A slight but significant higher incidence of a rare varian BF *FT (=* F075) in patients was confirmed in the combined data with our previous study (Tokunaga et al. 1981 b). No significant association of C2 and GLO alleles with IDDM was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295609
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  • 6
    Electronic Resource
    Electronic Resource
    The natural history of an HLA haplotype and its recombinants (1998)
    Springer
    Immunogenetics 48 (1998), S. 8-15 
    Details
    ISSN: 1432-1211
    Keywords: Key words HLA extended haplotype ; HLA population genetics ; Preferential recombination site ; Haplospecific markers ; Central HLA region
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The presence of haplotype-specific recombination sites can be determined by analyzing the conservation of extended haplotypes in the population. This approach considers all meioses in the history of the population and requires the presence of characteristic markers that easily allow the identification of the haplotype or of its recombined segments. The recombination breakpoint can then be mapped by looking for shared alleles between haplotypes selected through the specific marker/s. We identified a rare perfect tandem duplication of a 145 base pair segment in the LTA promoter, which tags a B60 (B60D) haplotype. The duplication was detected in 16/90 B60 + Europeans, while absent in 101 B60 + Orientals. The conservation of the class I end and the extreme variability of the class II end suggested that the present-day B60D haplotypes originated from an ancestral haplotype by recombination events centromeric to the duplicated sequence. Through a fine mapping using markers of the HLA central region a preferential recombination site was localized in the 60 kilobase interval between TNFd,e, and D6S273/K11 Amicrosatellite loci (i.e., between LST1 and BAT3 genes). This site behaves as a potent recombination enhancer leading to fragmentation in most of the extant B60D haplotypes and can be considered responsible for their “instability”. In the relatively recently founded Finnish population, where the LST1/BAT3 interval recombination has probably not yet had the chance to occur, a founder effect can explain the presence of a rare DP (DPB1 * 1601) allele in most B60D haplotypes in this population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050394
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  • 7
    Electronic Resource
    Electronic Resource
    An alternatively spliced form of the human CD94 gene (1998)
    Springer
    Immunogenetics 48 (1998), S. 87-88 
    Details
    ISSN: 1432-1211
    Keywords: Key words CD94 ; NK receptor ; Lectin ; Alternative splicing ; Type II transmembrane protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050407
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  • 8
    Electronic Resource
    Electronic Resource
    MIC-A polymorphism in Japanese and a MIC-A-MIC-B null haplotype (1999)
    Springer
    Immunogenetics 49 (1999), S. 620-628 
    Details
    ISSN: 1432-1211
    Keywords: Key words MIC-A polymorphism ; PCR-SSCP ; HLA association ; Deletion ; Null haplotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A polymorphic gene, MIC-A, is one of the MIC family of genes which is composed of a group of homologous genes interspersed in the class III and class I regions of the major histocompatibility complex. MIC-A is located 46 kilobases (kb) centromeric of HLA-B, and is preferentially expressed in the epithelial cells and intestinal mucosa. Recently, MIC-A and the closely related MIC-B were reported as the molecules that conferred specificity in the recognition by the Vδ1γδT cells. In the present study, polymorphic exons 2, 3, and 4 of the MIC-A gene were analyzed using the polymerase chain reaction-single-strand conformation polymorphism method. The number of patterns found in exons 2, 3, and 4 were 5, 6, and 4, respectively, in 114 healthy Japanese subjects. Eight MIC-A alleles were observed in Japanese individuals, among which one, tentatively named MIC-AMW, has not previously been reported. There was a strong linkage disequilibrium between MIC-A and HLA-B loci: each MIC-A allele showed strong association with a particular HLA-B group. In contrast, B*3901 showed association with multiple MIC-A alleles. Furthermore, the existence of a MIC-A-MIC-B null haplotype, which is associated with HLA-B*4801, was identified. In this haplotype, a large-scale deletion (of approximately 100 kb) including the entire MIC-A gene was indicated and the MIC-B gene possessed a stop codon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050658
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  • 9
    Electronic Resource
    Electronic Resource
    Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 777-783 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Polymorphism of the ABO blood group gene was investigated in 262 healthy Japanese donors by a polymerase chain reactions-single-strand conformation polymorphism (PCR-SSCP) method, and 13 different alleles were identified. The number of alleles identified in each group was 4 for A1 (provisionally called ABO*A101, *A102, *A103 and *A104 according to the guidelines for human gene nomenclature), 3 for B (ABO*B101, *B102 and *B103), and 6 for O (ABO*O101, *O102, *O103, *O201, *O202 and *O203). Nucleotide sequences of the amplified fragments with different SSCP patterns were determined by direct sequencing. Phylogenetic network analysis revealed that these alleles could be classified into three major lineages, *A/*O1, *B and *O2. In Japanese, *A102 and *13101 were the predominant alleles with frequencies of 83% and 97% in each group, respectively, whereas in group O, two common alleles, *O101 (43%) and *O201 (53%), were observed. These results may be useful for the establishment of ABO genotyping, and these newly described ABO alleles would be advantageous indicators for population studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346189
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  • 10
    Electronic Resource
    Electronic Resource
    Taq I-generated HLA-DQ αpolymorphism in Japanese patients with narcolepsy (1988)
    Springer
    Immunogenetics 27 (1988), S. 87-90 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Taq I-generated HLA-DQαrestriction fragment length polymorphism was examined in Japanese patients with narcolepsy. All patients were DR2 positive and shared a 6.0 kb fragment, although this fragment was found only in 54 % of the healthy DR2-positive Japanese. This finding added the DQ αgene to the list of candidates for the possible narcolepsy-susceptibility gene. In contrast, there was no complete association between narcolepsy and DXαrestriction fragment length polymorphism. These findings suggest that a narcolepsy-susceptibility gene is located closer to the DQ locus than to the DX locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00351080
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