[A case of an 8-year-old girl, a symptomatic carrier of Duchenne's muscular dystrophy].
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Age Factors↗
Biomedical subjects
M Nonaka
Publications and source records attributed to M Nonaka.
[A case of neuronal ceroid-lipofuscinosis diagnosed by muscle biopsy].
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Biopsy↗
Specific binding of a hepatoma nuclear factor to the NF.kappa B/H2TF1 recognition motif found in the C4 promoter, but not in the Slp promoter.
The fourth component of C (C4) and sex-limited protein (Slp) genes of FM strain mice show more than 95% nucleotide identity both in the coding and the about 2 kb of 5' flanking region, but are distinct in their regulation. Although C4 is a constitutive gene, Slp is an androgen-dependent gene and shows negligible basal level expression. We have previously shown that this difference in basal expression is determined by a region of about 400 bp immediately 5' of the transcriptional start site of the C4 and Slp genes. In this report, we demonstrate a specific binding site for a HepG2 nuclear extract in this region of the C4 gene by gel retardation and DNase I footprinting experiments. Nucleotide sequence of this binding site is very similar to the recognition sequence of well characterized transcription factors, NF.kappa B and H2TF1. Synthetic oligonucleotides representing the binding sites of the H-2Kb class I and IL-6 genes for these factors compete with the C4 promoter for the complex formation with a HepG2 nuclear factor. Due to the nucleotide deletion and substitution, the corresponding region of the Slp gene lacks this sequence motif as well as binding activity to the HepG2 nuclear factor.
Animals↗
Regulation of human and murine complement: comparison of 5' structural and functional elements regulating human and murine complement factor B gene expression.
The serine protease complement factor B (Bf), an acute phase plasma protein, is a component of the alternative pathway of complement activation. Previous studies revealed that several cytokines including IFN-gamma and IL-1 are involved in mediating acute phase Bf expression. To determine the molecular details of Bf expression we isolated, sequenced and characterized the 5' flanking regions of the human and murine Bf genes. In both species the Bf transcriptional start site in liver was located less than 400 bp 3' to the polyadenylation site of the upstream C2 gene. This upstream intergenic region contained greater than 65% nucleotide homology between species. Within this region, an IRS and three heat shock consensus elements were found in the murine sequence in an identical position to that of the human. To examine the functional details of Bf expression, a series of mouse and human Bf promoter-chloramphenicol acetyltransferase (CAT) chimeric gene constructs were transfected into mouse L or human HepG2 cells. Analysis of expression of these fusion gene constructs revealed that 1) cis-acting DNA sequences identified, at least in part, in the 3' untranslated region of the C2 gene (within the 400 bp upstream of the Bf cap site) mediate responsiveness to IL-1 and IFN-gamma, 2) the responsiveness to each mediator appears to be conferred by separate upstream regions similar in position and homologous in man and mouse, and 3) the IL-1 responsive region in both species appears to have the characteristics of an enhancer element. The results of this analysis suggest a selective pressure to conserve the intergenic sequence between C2 and Bf genes and that further studies of these sequences will be useful in elucidating mechanisms controlling the acute phase response.
Animals↗
Tissue-specific initiation of murine complement factor B mRNA transcription.
Factor B (Bf) gene expression is regulated independently in hepatic and extrahepatic tissues. In studying murine factor B expression, we found two mature mRNA species for Bf in kidney and intestine (2.7 and 2.4 kb) but in other tissues, including liver, lung, spleen, heart, brain, and skeletal muscle, only a single Bf transcript (2.4 kb) was observed. These two Bf transcripts in kidney or intestine are identical in structure except for a 300 bp 5' extension found in the 2.7-kb mRNA. The long Bf transcript originates from a tissue-specific alternative site of transcriptional initiation upstream of the initiation site for the 2.4-kb mRNA, as determined by primer extension and nuclease protection assays. The upstream initiation site lacks a typical promoter motif and is only 80 bp downstream from the terminus of the murine C2 gene. After stimulation in vivo with endotoxin, only the 2.4-kb mRNA increases in kidney indicating independent regulation of the two Bf transcripts. The differences in 5' untranslated region generated in these two Bf mRNA species may affect local concentrations of factor B protein in kidney and intestine by mechanisms depending on differential translation rates or stability of mRNA.
Acute-Phase Reaction↗
Fc receptors for IgE (Fc epsilon R) on human lymphoid cells: inducible expression of Fc epsilon RII (CD23) on lymphocytes and detection by monoclonal anti-Fc epsilon RII antibody.
The studies presented herein describe (1) a sensitive, quantitative, and objective assay for detecting cell membrane-bound form of Fc receptors for IgE displayed on human lymphoid cells based on measuring unlabeled Fc epsilon R-bound IgE by a solid-phase RIA of cell lysate fluids; (2) the development and characterization of an IgM monoclonal antibody, termed 7E4, which is specific for human lymphocyte Fc epsilon RII (CD23) molecules; and (3) a system for reproducibly inducing de novo synthesis and expression of Fc epsilon RII proteins on human lymphocytes following exposure to the mitogenic lectin, pokeweed mitogen. The Fc epsilon RII molecules induced by exposure to PWM were proven to be present on lymphocytes, and not on other cell types in several ways, including (1) documenting sensitivity of such proteins to both acid pH and trypsin treatment, the latter manipulation being ineffective in removing Fc epsilon RII molecules on basophils and mast cells; (2) demonstrating specific reactivity of the expressed Fc epsilon RII molecules with the 7E4 monoclonal antibody, which is specific for human lymphocyte Fc epsilon RII molecules and does not react with Fc epsilon R molecules on other cell types; and (3) observing the required concomitant presence of both T and B lymphocytes during the induction process and proving that the induced Fc epsilon R+ cells are indeed B cells of the Leu-12+ phenotype by fluorescence analysis. The ability to induce expression of Fc epsilon RII molecules on human lymphocytes exposed to a mitogen such as PWM requires special technical attention to the method of preparation and isolation of human lymphoid cells from peripheral blood. This in vitro system for up-regulating Fc epsilon RII expression on human lymphocytes should provide us with an important new tool to analyze the participation of such cells in the regulatory mechanisms controlling the human IgE antibody system.
Animals↗
Cloning of cDNA coding for low-affinity Fc receptors for IgE on human T lymphocytes.
Using a cDNA probe corresponding to the membrane-bound form of the B cell receptor for IgE, we have isolated, sequenced, and expressed a cDNA clone which codes for a human T lymphocyte Fc epsilon R from HUT-78 cells. This T cell Fc epsilon R cDNA codes for 320 amino acid residues, and shows high homology to the B cell Fc epsilon R sequence. The major differences between this T cell and the B cell Fc epsilon R cDNA sequences are (i) a limited stretch of nucleotides at the 5' segment of the coding region which encodes a putative cytoplasmic region of the Fc epsilon R molecule and the untranslated 5' end; and (ii) an additional 64 bp segment in the untranslated 3' end containing two repeats in tandem with three existing repeats in the same region. The expression of Fc epsilon R on T lymphocytes may reflect involvement of the Fc epsilon R in regulation of IgE-mediated responses. The cytoplasmic difference implies functional activity of the Fc epsilon R in T lymphocytes that is mechanistically different from the Fc epsilon R of B lymphocytes.
Amino Acid Sequence↗
Primary intestinal myopathy, a cause of chronic idiopathic intestinal pseudoobstruction syndrome (CIPS): clinicopathological studies of seven cases in children.
Clinicopathological data on seven instances of primary intestinal myopathy in children are reported. The ages of the patients ranged from eleven months to thirteen years. A persistent intestinal obstruction was the main and constant clinical feature. An ineffective intestinal propulsion was documented on manometric studies. Various urological abnormalities were present in three cases. One patient died and six survive but are dependent on enteral and parenteral nutrition. The morphological findings consisted of degenerative changes involving the muscular layers of the intestinal wall. These changes varied from cytoplasmic vacuolation to definite atrophy and disappearance of the muscular fibers. An extensive interstitial fibrosis underlined these atrophic changes in the late stages of the disease. A familial history was identified in three cases, one consistent with an autosomal dominant transmission.
Child↗
[Closure method of bronchopleural fistula with omental pedicle flap in three cases following pneumonectomy].
This report presents that successful closure of bronchopleural fistula was performed by using omental pedicle flap for three postpneumonectomy patients. In our department, these cases were experienced among 142 pneumonectomies from January 1984 to July 1989. The initial operations were a pleuropneumonectomy for empyema, a pneumonectomy and a sleeve pneumonectomy for lung cancer. Our technique was direct closure of bronchopleural fistula with omental pedicle flap without thoracoplasty. Although none of them had recurrence of bronchopleural fistula nor other complications in postoperative course, two patients died of cancer.
Bronchial Fistula↗
Mapping of the transcriptional regulatory domains responsible for the difference in the promoter activity between mouse C4 and Slp (sex-limited protein) genes.
The genes for the fourth complement component (C4) and sex-limited protein (Slp) of the mouse exhibit a high degree of sequence homology and have probably been derived by recent gene duplication from a common ancestor gene, but their mode of expression is greatly different in most standard mouse strains. Although the C4 gene is constitutively expressed, the Slp gene is expressed only under the influence of androgens or not expressed at all. To map the transcriptional regulatory domains that are responsible for the difference in the promoter activity between the mouse C4 and Slp genes, we constructed various hybrid promoters from the 5'-flanking DNA of the C4 and Slp genes of the FM strain and tested for their transcriptional activity. The hybrid promoters were inserted into the HindIII site located immediately upstream of the chloramphenicol acetyl transferase (CAT) gene of the plasmid pSVOcat. The expression of CAT was assayed in transiently transfected HepG2 cells and in permanently transfected Ltk- cells. The transcriptional regulatory region responsible for the difference between the C4 and Slp gene expression was mapped within the 5'-flanking region of about 400 nucleotides near the promoters of the C4 and Slp genes. By S1 mapping analysis, it was shown that the CAT activities expressed in transfected cells were due to the transcripts correctly initiated from the promoter of the C4 or Slp genes in the chimeric constructs.
Animals↗
Molecular cloning and nucleotide sequence of tuna growth hormone cDNA.
cDNA for mRNA of tuna growth hormone (GH) was cloned by screening a cDNA library constructed from tuna pituitary gland poly(A)+ RNA. The nucleotide sequence of cDNA (911 bases) revealed an open reading frame of 615 nucleotides, including a sequence (51 bases) for a possible secretory protein leader peptide. Noncoding regions were found in the nucleotide sequences up- (5'-terminal: 65 bases) and down- (3'-terminal: 231 bases) stream of the open reading frame. An amino-acid sequence deduced from the nucleotide sequence of the cDNA was identical with that determined in the purified tuna GH. Tuna GH was composed of 187 amino acids, and had a calculated molecular weight of 21,275. Amino-acid sequencing showed that there was one possible N-glycosylation site at Asn (Asn-Cys-Thr). Tuna GH showed amino-acid sequence homologies with chum salmon (67%), yellow tail (90%) and with human (32%) growth hormones.
Amino Acid Sequence↗
Local extrahepatic expression of complement genes C3, factor B, C2, and C4 is increased in murine lupus nephritis.
Systemic lupus erythematosus (SLE) is associated with the presence of complement proteins and immune complexes in affected organs. Since complement proteins are synthesized in hepatic and extrahepatic sites, we studied a murine model of SLE to ascertain the relative importance of local and humoral (liver) synthesis of complement. C3, C4, and C2 mRNA increase in kidney coincident with the development of nephritis in the MRL lpr/lpr mouse, a strain that spontaneously develops SLE. Two factor B messenger RNA transcripts are expressed in kidney and intestine; SLE nephritis is associated with decrease in the long factor B mRNA and increase in the short form. Increased local synthesis of C3 and B protein and a concomitant glomerular and renal interstitial macrophage infiltrate paralleled the increase in mRNA content in the (lpr/lpr) mice. In addition to kidney, an increase in C3, C4, C2 and factor B mRNA was noted in the lung, heart and intestine and to a lesser extent in liver of (lpr/lpr) in comparison to the MRL (+/+) animals. These results suggest that in SLE local expression of complement genes plays a role in the pathogenesis of chronic glomerulonephritis and in the autoimmune arteritis of other organs.
Animals↗
Neurotological findings in Bell's palsy and Hunt's syndrome.
Neurotological findings were analysed in 23 patients with Bell's palsy and in 25 patients with Hunt's syndrome. The incidence and extent of the auditory and vestibular pathology was high in Hunt's syndrome. Although patients had no subjective symptoms related to the auditory and/or vestibular pathology in the Bell's palsy cases, about one-third of the patients showed abnormal findings upon neurotological examination. Differentiating these two diseases is therefore considered difficult by means of neurotological examination in the same way as by serological testing as has been reported by other investigators.
Audiometry, Pure-Tone↗
Growth-promoting activity of tuna growth hormone and expression of tuna growth hormone cDNA in Escherichia coli.
Tuna (Thunnus thynnus) growth hormone (GH) was purified by using a column of Sepharose 4B to which tuna GH-specific IgG was linked. The molecular weight and isoelectric point of tuna GH were 21,000 and 6.5, respectively. The growth of snapper (Pagrus major) was remarkably accelerated when the purified hormone was administered by four intraperitonial injections at intervals of 5 days: 1.5-fold in length and 1.9-fold in body weight/60 days. To produce tuna GH in Escherichia coli cells, expression plasmids pTES8 and pTES8S for tuna GH cDNA with or without the signal peptide region were constructed and GH production in E. coli cells was examined with the Maxicell system. The product specified by the plasmids in E. coli cells was immunologically identified to be tuna GH.
Amino Acid Sequence↗
[Evaluation of anionic composition of hypothermic liver preservation solution by 31P NMR].
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Animals↗
Recombination of two homologous MHC class III genes of the mouse (C4 and Slp) that accounts for the loss of testosterone dependence of sex-limited protein expression.
In most mouse strains, expression of a gene encoding sex-limited protein (Slp), an isotype of the fourth component of complement (C4), is induced by testosterone, or the gene is not expressed at all; however, in some wild-derived strains carrying H-2w7, H-2w16, or H-2w19 haplotype, Slp is expressed constitutively in the same way as C4. To examine the structural basis for the testosterone-independent expression of Slp, 41 overlapping clones together encoding the S region were isolated from C3H.W7 mouse (H-2w7) cosmid library. Five C4-related genes each spanning approximately 16 kb were identified among the cluster of cosmid clones and were isolated for structural study. One of the genes (C4w7) hybridized with the C4-specific oligonucleotide probe but not with the Slp-specific oligonucleotide probe, whereas the other genes (Slpw7a, Slpw7b, Slpw7c, and Slpw7d) hybridized only with the Slp-specific probe. Restriction mapping of these genes and sequencing of the selected regions of 5'-flanking regions of the genes were performed, and the results were compared with the data obtained with the C4 and Slp genes of FM (H-2d) and B10.BR (H-2k). These studies showed that three of the C4-related genes of C3H.W7 (Slpw7b, Slpw7c, and Slpw7d) are C4-Slp recombinant genes comprising a 5'-region derived from C4 gene and a 3'-region derived from Slp gene. It is suggested that 5'-flanking region derived from C4 in these C4-Slp recombinant genes accounts for testosterone-independent expression of Slp in C3H.W7 mouse.
Animals↗
[Effect of arterial injection of lipiodol-adriamycin emulsion on hepatocellular carcinoma].
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Carcinoma, Hepatocellular↗
Complete nucleotide and derived amino acid sequences of sex-limited protein (Slp), nonfunctional isotype of the fourth component of mouse complement (C4).
The nucleotide sequence coding for sex-limited protein (Slp), the testosterone-regulated isotype of the fourth component of mouse complement (C4), has been determined from cloned genomic DNA and cDNA fragments. The complete deduced amino acid sequence for the single chain precursor protein of Slp (pro-Slp) consists of 1716 residues. The mature beta, alpha, and gamma subunits contain 654, 763, and 291 amino acids, respectively. One potential carbohydrate attachment site is predicted from the beta-chain, five for the alpha-chain, and none for the gamma-chain. From the comparison with the mouse C4 sequences, an extensive overall sequence homology, 96.0% in nucleotides and 94.2% in amino acids, is observed. Only one deletion/insertion event is recognized between C4 and Slp sequences: three residues near the Cls cleavage site are deleted from Slp. The distribution of cysteine residues is completely conserved between pro-Slp and pro-C4.
Amino Acid Sequence↗