[Renal involvement in primary immunodeficiency].
Explore the source record for details and available documents.
Complement System Proteins↗
Biomedical subjects
S Kuwata
Publications and source records attributed to S Kuwata.
[Recent advances in the molecular biological basis of alloantigen systems on white blood cells].
Alloantigen systems on leukocytes are constitutive in clinical and transfusion medicine. Three-dementional structures of HLA class I(A, B, C) and class II(DR, DQ, DP) molecules have disclosed 6 pockets(A, B, C, D, E, F) on class I and 5 pockets(P1, P4, P6, P7, P9) on class II for antigenic peptides binding. Numbers of both HLA alleles and newly identified HLA genes are increasing. HLA-G is expressed solely on non-villous trophoblasts and involved in the pregnancy. HLA-H is responsible for hereditary hemochromatosis. Polymorphic FcRIII molecules expressed on granulocytes and NK cells are involved in allo- and auto-immune granulocytepenia. Molecular biological study will provide a functional significance of polymorphic leukocyte alloantigen systems.
Female↗
Resistance against cucumber mosaic virus in plants expressing the viral replicon.
CMV RNAs 1 and 2 are considered to constitute the viral replicon. Tobacco plants were transformed with either RNA1 or RNA2 to produce plant lines V1 and V2, respectively. Plants homozygous for each of the RNAs were generated and crossed to produce V1V2 (V2V1) lines that expressed both RNA1 and RNA2. An RNase protection assay indicated that RNA1 and RNA2 multiplied in V1V2 (V2V1) plants. Surprisingly, V1V2 (V2V1) plants, unlike their parent lines, showed a remarkably high level of resistance to CMV; this resistance was more effective against RNA inoculation than against virion inoculation. Experiments using protoplasts showed that the resistance was expressed at the single cell level. All the data together suggested that the observed resistance does not fit the criteria for either 'RNA-mediated' or 'replicase-mediated' resistance.
Base Sequence↗
Identification and DNA typing of two Cw7 alleles (Cw*0702 and Cw*0704) in Japanese, with the corrected sequence of Cw*0702.
Two alleles encoding HLA-Cw7 antigens, tentatively called C7J1 and C7J2, have been identified in Japanese using a PCR-SSCP method. The nucleotide sequence of full-length C7J1 cDNAs showed a high degree of homology to the reported Cw*0702 sequence except in exon 1. We then resequenced the allele carried by the cell line JY in which Cw*0702 was first identified, according to a request from the WHO Nomenclature Committee. The results revealed complete identity between the corrected Cw*0702 sequence and the C7J1 sequence. On the other hand, the C7J2 sequence was completely identical to the reported Cw*0704 sequence. Sequences specific for Cw*0702 and Cw*0704 were confirmed using PCR-RFLP and PCR-SSO methods. Moreover, association analysis with other HLA locus alleles showed positive associations of Cw*0702 with HLA-B7, -B39, and -B67 and of Cw*0704 with HLA-B70 in Japanese.
Alleles↗
Genetic polymorphisms of the major histocompatibility complex-encoded antigen-processing genes TAP and LMP in sarcoidosis.
Sarcoidosis is a granulomatous disease showing a significant increase in the HLA-DR5, -DR6, and -DR8 associated alleles in Japanese. To investigate whether the class I antigen-processing genes, encoded within the MHC class II region between the HLA-DP and -DQ loci, are involved in determining the susceptibility to sarcoidosis, TAP1, TAP2, and LMP2 alleles were analyzed by the PCR-RFLP method in 85 Japanese patients with sarcoidosis and 91 healthy controls. There were no significant differences in the distribution of TAP1 and LMP2 alleles between the subgroups of the patients and controls positive or negative for DR5, DR6, and DR8. A significant decrease in the frequency of TAP2*0201 was found among the patients negative for DR5, DR6, and DR8 as compared to the DR-matched controls (p < 0.05), but this could be explained by its linkage disequilibrium to the negatively associated allele DR1. These findings suggest that the TAP or LMP2 gene is not primarily involved in the susceptibility to sarcoidosis. In the course of this study, a linkage disequilibrium was observed in the Japanese population between TAP1 and TAP2 alleles, TAP1*0201 and TAP2*0102.
ATP Binding Cassette Transporter, Subfamily B, Mem↗
HLA-DM gene polymorphisms in atopic dermatitis.
HLA-DM molecules are involved in the antigen-processing pathway of HLA class II-restricted antigen presentation. We investigated polymorphisms of HLA-DM genes in atopic dermatitis by using the polymerase chain reaction-restriction-fragment length polymorphism method to examine a possible contribution of these genes to the pathogenesis of atopic dermatitis. Genomic DNA was extracted from 37 Japanese patients with atopic dermatitis and 52 control subjects. After polymerase chain reaction amplification of the polymorphic third exon of DMA and DMB genes, amplified products were digested with restriction endonucleases to determine HLA-DM alleles. FokI, HinfI, AciI and SfaNI were used for DMA; HhaI, BsrI, ApaLI, and Bsp1286I for the DMB gene. We identified three DMA alleles and also three DMB alleles. One of 37 patients possessed the DMA*0103 allele, which has been reported as a rare allele in Caucasian populations. Any DMA and DMB alleles were not increased in the patients. The DMA*0102 allele was estimated to constitute a haplotype with DRB1*1201/DQB1*0301 and DRB1*0901/DQB1*0301 in a Japanese population. HLA-DM genes are not considered to contribute primarily to the susceptibility of atopic dermatitis. Further investigation of the functional roles of HLA-DM gene polymorphisms will be useful for a better understanding of susceptibility loci in HLA class II-associated disease.
Adolescent↗
Changes in eosinophil and leukocyte infiltration and expression of IL-6 and IL-7 messenger RNA in mite allergen patch test reactions in atopic dermatitis.
Patch testing with crude dust mite extracts after removal of homy layers was performed on normal-appearing skin of 11 adult patients with atopic dermatitis and high mite-specific IgE antibody scores. Positive skin reactions were observed in 9 subjects. Skin biopsy specimens were obtained from positive reaction sites at 2, 6, 12, 24, and 48 hours after allergen challenge and subjected to histologic studies and extraction of messenger RNA (mRNA). Perivascular infiltration of small mononuclear cells began at 2 hours and was followed by eosinophilic infiltration at 6 hours, and the number of eosinophils continued to increase at 24 and 48 hours. In addition to the increased expression of IL-4, IL-5, and tumor necrosis factor-alpha mRNA during the time course detected by reverse-transcription polymerase chain reaction, mRNA of IL-6 and IL-7 was also up-regulated. After the removal of test patches with mite allergen, the number of eosinophils started to decrease in a time-dependent manner. Histopathologic findings at 48 hours after removal showed lymphocyte-dominant infiltration intermingled with occasional eosinophils. These mite allergen patch test reactions may provide a useful model for studying the pathogenesis of atopic eczema, especially with regard to the initiation of eosinophil infiltration and the alternative increase in lymphocytes.
Adult↗
Study of aspartate at residue 9 of HLA-C molecules in Japanese patients with psoriasis vulgaris.
The frequency of aspartate at residue 9 (Asp-9) of HLA-C molecules was investigated among 75 Japanese patients with psoriasis vulgaris and 50 healthy controls. We developed a technique of polymerase chain reaction sequence-specific primer (PCR-SSP) amplification of genomic DNA for HLA-C alleles with a codon for Asp-9. The specificity of amplification was confirmed by direct sequencing of the amplified products and amplification from total RNA (RT-PCR). Asp-9 was positive in all individuals with Cw6 and/or Cw7, but negative in the others, indicating that Asp-9 was specific to Cw6 and Cw7 antigens in our subjects. The frequency of Asp-9 was significantly increased in the patient group (48% vs. 20%; P < 0.002). The frequency of alanine at residue 73 (Ala-73), which was positive for Cw4, Cw6, Cw7, and some C blanks, was also increased in our previous study (81% vs. 48%; P < 0.0001). Asp-9 is located on a beta sheet of alpha 1 domain of HLA-C molecule and influences the peptide binding of the C pocket of the groove together with Ala-73. Both Asp-9 and Ala-73 could contribute to the disease susceptibility to psoriasis vulgaris in the immune responses.
Alleles↗
Allelic variations in the TAP2 and LMP2 genes in Behçet's disease.
Explore the source record for details and available documents.
ATP Binding Cassette Transporter, Subfamily B, Mem↗
A novel TAP 2 gene RFLP observed in a Japanese.
Explore the source record for details and available documents.
ATP Binding Cassette Transporter, Subfamily B, Mem↗
Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE.
OBJECTIVE: To determine how polymorphism of transporter associated with antigen processing 1 and 2 (TAP1 and 2) alleles contributed to the pathogenesis of systemic lupus erythematosus (SLE) in Japanese patients. METHODS: TAP1 and TAP2 typing was carried out in 52 Japanese patients with SLE and 95 normal subjects by the PCR-RFLP (restriction fragment length polymorphism) method. HLA-DR typing and HLA-DRB1*15 genotyping were carried out by the PCR method and PCR-SSCP (single stranded DNA conformation polymorphism) method, respectively. RESULTS: No particular TAP 1 allele was associated with Japanese SLE or with immunological subgroup of SLE. TAP2H showed a tendency towards increased frequency in SLE (5.8% v 0% in control), but the corrected P value was not significant. No other particular association of TAP2 allele was observed. Furthermore, these was no evidence for linkage disequilibrium between any TAP1/TAP2 alleles and HLA-DRB1*1501--which is reported to be weakly but significantly association with Japanese SLE--in either the normal control or the SLE patient group. CONCLUSIONS: Neither the TAP1 nor the TAP2 gene appears to determine disease susceptibility to SLE in Japanese, and these results are in keeping with those reported in Caucasian SLE patients.
ATP Binding Cassette Transporter, Subfamily B, Mem↗
Broad resistance to plant viruses in transgenic plants conferred by antisense inhibition of a host gene essential in S-adenosylmethionine-dependent transmethylation reactions.
S-Adenosylhomocysteine hydrolase (SAHH) is a key enzyme in transmethylation reactions that use S-adenosylmethionine as the methyl donor. Because of the importance of SAHH in a number of S-adenosylmethionine-dependent transmethylation reactions, particularly the 5' capping of mRNA during viral replication, SAHH has been considered as a target of potential antiviral agents against animal viruses. To test the possibility of engineering a broad type of resistance to plant viruses, we expressed the antisense RNA for tobacco SAHH in transgenic tobacco plants. As expected, transgenic plants constitutively expressing an anti-sense SAHH gene showed resistance to infection by various plant viruses. Among those plants, about half exhibited some level of morphological change (typically stunting). Analysis of the physiological change in those plants showed that they contained excess levels of cytokinin. Because cytokinin has been found to induce acquired resistance, there is also a strong possibility that the observed resistance was induced by cytokinin.
Journal Article↗
The novel variants of mb-1 and B29 transcripts generated by alternative mRNA splicing.
The Ig-alpha/Ig-beta heterodimers encoded by mb-1 and B29 genes, respectively, are crucial for the constitution of the B-cell receptor (BCR). We report here novel variants of mb-1 and B29 transcripts produced by alternative mRNA splicing. The proteins encoded by these variants are predicted to conserve transmembrane and cytoplasmic portions of Ig-alpha and Ig-beta but lack a part of the extracellular portions containing cysteine residues which are required for intramolecular and intermolecular S-S bonds. Transfection studies revealed that the variant mb-1 and B29 did not contribute to the BCR expression on cell surfaces. Although peripheral B cells contain small amounts of the variant mb-1 and B29 transcripts, treatment with an anti-IgM antibody, LPS or IL-4 induces a significant increase in amounts of the variant transcripts. These observations suggest that B-cell activation induces alternative splicing of mb-1 and B29 transcripts which encode proteins unable to constitute the BCR.
Alternative Splicing↗
HLA and anti-GQ1b IgG antibody in Miller Fisher syndrome and Guillain-Barré syndrome.
We investigated serological human leukocyte antigen (HLA) types in patients with histories of Miller Fisher syndrome (MFS) and Guillain-Barré syndrome (GBS) with ophthalmoplegia, in whom serum anti-GQ1b IgG antibody was present during the acute phase. We examined class I antigens (A, B and C) in 32 patients and class II antigens (DR and DQ) in 30, but found no association. We conclude that particular serologically defined HLA types are not preferred for the immunoresponse of anti-GQ1b IgG antibody in MFS and GBS.
Autoantibodies↗
A new B18 sequence (B*1802) from Asian individuals.
A new HLA-B18 allele (B*1802) derived from a Thai individual was sequenced. Comparison of this B18 nucleotide sequence with the published B*1801 sequence indicated that this Asian B18 allele has a nucleotide sequence different from that of B*1801. Three nucleotide changes were observed in exon 3, in which two substitutions at codon 97, AGG in B*1801 to AAT in the B*1802, result in an amino acid change from arginine to asparagine. The residue 97Asn has also been described in some B27 subtypes. A silent mutation was also observed at codon 99, TAC in B*1801 to TAT in the B*1802. This sequence has been reported in many class I alleles published so far. Moreover, 18 HLA-B18-positive samples were examined by the PCR-SSO method using specific probes for B*1801 and B*1802. The results demonstrated that three Asian samples possess B*1802 and share HLA-Cw7, DR12, and DQ7.
Alleles↗
Both HLA-B*1301 and B*1302 exist in Asian populations and are associated with different haplotypes.
A B13 split antigen was newly identified with three alloantisera in Japanese, and two B13 split antigens were found in a Thai family. To confirm the variation of B13 and understand the correspondence between the serologic splits and the published B13 alleles, B*1301 and B*1302, we determined the sequences of genes coding for these B13 splits. The common Japanese B13 allele was found to be B*1301, whereas another split antigen was shown to be coded by B*1302. Two B13 variants identified in a Thai individual corresponded to B*1301 and B*1302. Moreover, 57 B13-positive samples from several ethnic groups were examined using the PCR-SSO method. Differing from previous reports, both B*1301 and B*1302 were found in samples from Asian populations. These two alleles were separately associated with different antigens: HLA-B*1301 exhibited a strong association with A2, Cw10, DR12, and DQ7 antigens, whereas HLA-B*1302 was strongly associated with A30, Cw6, DR7, and DQ2 antigens. In addition, applying the PCR-SSCP method, B*1301 and B*1302 could also be simply distinguished from each other.
Alleles↗
A new HLA-C allele, Cw*1403, associated with HLA-B44 in Japanese.
An allele encoding an HLA-C antigen, tentatively called CX44, associated with HLA-B44 was identified as a new member of the Cw14 group, Cw*1403. The nucleotide sequence of Cw*1403 was closest to that of Cw*1401: five bases were different between the two alleles, in which three bases in Cw*1403 (two in exon 3 and one in exon 4) were the same as those of most HLA-C alleles. Two substitutions from guanine to adenine were found in the new allele, both of which are in exon 2, one at position 134 (61 of exon 2) and the other at position 201 (128 of exon 2). The former nucleotide substitution leads to the substitution of amino acid residue 21 from Arg to His, and the other substitution was synonymous. The former substitution was shared with Cw2, 3, 5, 13, and 15 alleles, and the latter was shared with Cw2, 4, 5, 8, 12, 13, 15 and 16 alleles. The other seven unrelated Japanese samples with CX44 were analyzed by a PCR-SSO method. It was confirmed that all the seven samples have the same substitutions as the sequenced allele, and the allele demonstrates a strong association with A33, B44, DR13, and DQ1, which are known to form a common haplotype in Japanese and Koreans.
Alleles↗
Lack of primary association between transporter associated with antigen processing genes and atopic dermatitis.
We examined polymorphisms of transporter associated with antigen processing (TAP) genes in 37 Japanese patients with atopic dermatitis and 52 control subjects. We have evaluated, again, the specificity polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method since our previous report and have also developed a mismatch PCR-RFLP method for discriminating two dimorphic sites of TAP1 gene and four dimorphic sites of TAP2 gene. Amplified products from genomic DNA were digested with restriction endonucleases: Sau3A1 for TAP1 codon 333 (Ile-Val), AccI for TAP1 codon 637 (Asp-Gly), and BfaI for TAP2 codon 687 (Stop-Gln). The other sites of TAP2 gene were analyzed by mismatch PCR-RFLP: AccII for TAP2 codon 379 (Val-Ile), RsaI for codon 565 (Ala-Thr), and MspI for codon 665 (Thr-Ala). We observed three TAP1 alleles and six TAP2 alleles. Infrequent allele TAP1 C was observed in one patient and one control subject. We did not identify any differences in TAP allele frequencies between those patients with atopic dermatitis and Japanese control subjects. Analysis of TAP gene polymorphisms will provide better understanding of susceptibility loci in HLA class II-associated disease because TAP genes are located between HLA-DQB1 and HLA-DPB1 loci.
ATP Binding Cassette Transporter, Subfamily B, Mem↗